Incidental Mutation 'R6248:Pcdha11'
ID |
505649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha11
|
Ensembl Gene |
ENSMUSG00000102206 |
Gene Name |
protocadherin alpha 11 |
Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R6248 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37143911-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37138950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 193
(L193P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000193777]
[ENSMUST00000192631]
[ENSMUST00000192512]
[ENSMUST00000192447]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000194038]
[ENSMUST00000192503]
[ENSMUST00000194544]
[ENSMUST00000192295]
[ENSMUST00000193839]
[ENSMUST00000195590]
[ENSMUST00000194751]
|
AlphaFold |
Q91Y19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097612
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115657
|
SMART Domains |
Protein: ENSMUSP00000111321 Gene: ENSMUSG00000102206
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.95e-2 |
SMART |
CA
|
155 |
240 |
7.44e-19 |
SMART |
CA
|
264 |
347 |
5.63e-28 |
SMART |
CA
|
371 |
452 |
3.14e-26 |
SMART |
CA
|
476 |
562 |
1.42e-24 |
SMART |
CA
|
593 |
675 |
1.03e-12 |
SMART |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115658
AA Change: L193P
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000111322 Gene: ENSMUSG00000007440 AA Change: L193P
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
CA
|
46 |
132 |
6.34e-2 |
SMART |
CA
|
156 |
241 |
4.65e-20 |
SMART |
CA
|
265 |
349 |
1.25e-25 |
SMART |
CA
|
373 |
454 |
9.22e-24 |
SMART |
CA
|
478 |
564 |
4.3e-24 |
SMART |
CA
|
595 |
678 |
5.07e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
795 |
929 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
SMART Domains |
Protein: ENSMUSP00000111323 Gene: ENSMUSG00000103770
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
CA
|
75 |
161 |
2.46e-2 |
SMART |
CA
|
185 |
270 |
8.1e-20 |
SMART |
CA
|
294 |
378 |
1.69e-22 |
SMART |
CA
|
402 |
483 |
1.52e-24 |
SMART |
CA
|
507 |
593 |
5.68e-24 |
SMART |
CA
|
624 |
705 |
6.69e-12 |
SMART |
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
SMART Domains |
Protein: ENSMUSP00000142156 Gene: ENSMUSG00000104318
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.58e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
1.42e-24 |
SMART |
CA
|
372 |
453 |
9.36e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
671 |
4.03e-6 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192447
|
SMART Domains |
Protein: ENSMUSP00000142270 Gene: ENSMUSG00000102206
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
1.5e-4 |
SMART |
CA
|
155 |
240 |
3.6e-21 |
SMART |
CA
|
264 |
347 |
2.8e-30 |
SMART |
CA
|
371 |
452 |
1.5e-28 |
SMART |
CA
|
476 |
562 |
6.8e-27 |
SMART |
CA
|
593 |
675 |
4.9e-15 |
SMART |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194691
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.2e-2 |
SMART |
CA
|
155 |
240 |
2.05e-21 |
SMART |
CA
|
264 |
348 |
8.81e-21 |
SMART |
CA
|
372 |
453 |
2.01e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
591 |
673 |
1.63e-15 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
SMART Domains |
Protein: ENSMUSP00000142159 Gene: ENSMUSG00000103800
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
2.04e-25 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
9.88e-24 |
SMART |
CA
|
594 |
676 |
8.62e-15 |
SMART |
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
3.78e-2 |
SMART |
CA
|
152 |
237 |
8.94e-22 |
SMART |
CA
|
261 |
345 |
3.74e-24 |
SMART |
CA
|
369 |
450 |
1.09e-25 |
SMART |
CA
|
474 |
560 |
1.42e-24 |
SMART |
CA
|
588 |
670 |
2.96e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
SMART Domains |
Protein: ENSMUSP00000142103 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
SMART Domains |
Protein: ENSMUSP00000142285 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (92/92) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
C |
1: 159,902,978 (GRCm39) |
S83P |
possibly damaging |
Het |
Actr10 |
A |
T |
12: 70,999,733 (GRCm39) |
E176D |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,258,662 (GRCm39) |
|
probably null |
Het |
AI429214 |
T |
A |
8: 37,461,278 (GRCm39) |
I142N |
probably damaging |
Het |
Alox12 |
A |
G |
11: 70,143,936 (GRCm39) |
L148S |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,809,680 (GRCm39) |
I1147V |
probably benign |
Het |
Apoc2 |
C |
T |
7: 19,407,493 (GRCm39) |
V12I |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,124,407 (GRCm39) |
S311G |
probably benign |
Het |
Arih2 |
G |
T |
9: 108,488,841 (GRCm39) |
H292Q |
probably damaging |
Het |
Cdc14a |
A |
T |
3: 116,101,843 (GRCm39) |
D312E |
probably benign |
Het |
Cdh12 |
T |
G |
15: 21,237,800 (GRCm39) |
W12G |
possibly damaging |
Het |
Cisd2 |
A |
T |
3: 135,114,616 (GRCm39) |
N118K |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 99,999,827 (GRCm39) |
Q195R |
probably benign |
Het |
Cyp2r1 |
A |
G |
7: 114,161,966 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dido1 |
T |
A |
2: 180,302,048 (GRCm39) |
H1952L |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,871,283 (GRCm39) |
|
probably null |
Het |
Dnal4 |
T |
A |
15: 79,646,714 (GRCm39) |
M56L |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,581,112 (GRCm39) |
V538A |
probably benign |
Het |
Eps8l2 |
A |
G |
7: 140,922,015 (GRCm39) |
D31G |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,219,479 (GRCm39) |
L112* |
probably null |
Het |
Etl4 |
C |
T |
2: 20,813,900 (GRCm39) |
T1907I |
possibly damaging |
Het |
Exoc3 |
A |
G |
13: 74,330,400 (GRCm39) |
F510L |
probably benign |
Het |
Fam114a2 |
G |
T |
11: 57,383,942 (GRCm39) |
T324K |
possibly damaging |
Het |
Fer1l4 |
G |
A |
2: 155,888,091 (GRCm39) |
R465C |
probably damaging |
Het |
Frmd4b |
A |
C |
6: 97,436,173 (GRCm39) |
S2R |
probably benign |
Het |
Fscn1 |
A |
T |
5: 142,946,778 (GRCm39) |
D192V |
possibly damaging |
Het |
Gm3486 |
T |
A |
14: 41,206,472 (GRCm39) |
*200C |
probably null |
Het |
Gusb |
A |
T |
5: 130,029,366 (GRCm39) |
H138Q |
probably benign |
Het |
Hdac9 |
A |
T |
12: 34,578,293 (GRCm39) |
M4K |
possibly damaging |
Het |
Hhipl1 |
G |
T |
12: 108,284,964 (GRCm39) |
R439L |
probably benign |
Het |
Hoxd9 |
A |
G |
2: 74,528,980 (GRCm39) |
E194G |
probably benign |
Het |
Itgb1 |
A |
G |
8: 129,448,902 (GRCm39) |
S503G |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,437,216 (GRCm39) |
C500S |
probably damaging |
Het |
Kdm7a |
G |
A |
6: 39,123,983 (GRCm39) |
S727L |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,540,507 (GRCm39) |
F92L |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,596,137 (GRCm39) |
V62A |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,863,032 (GRCm39) |
|
probably null |
Het |
Krt40 |
A |
G |
11: 99,432,566 (GRCm39) |
I150T |
possibly damaging |
Het |
Larp4b |
A |
G |
13: 9,208,738 (GRCm39) |
T464A |
probably benign |
Het |
Lrrc52 |
T |
G |
1: 167,293,964 (GRCm39) |
D107A |
probably damaging |
Het |
Mapkap1 |
G |
T |
2: 34,408,692 (GRCm39) |
V35F |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,044,313 (GRCm39) |
V171A |
probably damaging |
Het |
Metap1d |
A |
T |
2: 71,346,104 (GRCm39) |
R222* |
probably null |
Het |
Mrgpre |
G |
A |
7: 143,334,603 (GRCm39) |
A300V |
probably benign |
Het |
Mterf1b |
C |
A |
5: 4,246,606 (GRCm39) |
N82K |
probably benign |
Het |
Myh9 |
C |
T |
15: 77,669,422 (GRCm39) |
W533* |
probably null |
Het |
Myom2 |
A |
G |
8: 15,148,472 (GRCm39) |
|
probably null |
Het |
Ncor1 |
G |
A |
11: 62,257,808 (GRCm39) |
P329S |
probably damaging |
Het |
Nr2f1 |
T |
C |
13: 78,344,611 (GRCm39) |
|
probably benign |
Het |
Or10x1 |
T |
G |
1: 174,197,236 (GRCm39) |
V251G |
probably benign |
Het |
Or11a4 |
T |
A |
17: 37,536,451 (GRCm39) |
L145* |
probably null |
Het |
Or2a57 |
C |
T |
6: 43,212,838 (GRCm39) |
Q99* |
probably null |
Het |
Or2w6 |
A |
T |
13: 21,843,244 (GRCm39) |
I83N |
possibly damaging |
Het |
Or52p2 |
T |
C |
7: 102,237,237 (GRCm39) |
T238A |
probably benign |
Het |
Or6c210 |
A |
G |
10: 129,496,532 (GRCm39) |
I286V |
probably benign |
Het |
Or6z1 |
A |
T |
7: 6,504,675 (GRCm39) |
C183* |
probably null |
Het |
Pcdhb20 |
T |
A |
18: 37,639,285 (GRCm39) |
F604I |
probably damaging |
Het |
Pde1a |
T |
C |
2: 79,708,545 (GRCm39) |
H291R |
probably damaging |
Het |
Pfkm |
G |
A |
15: 98,024,260 (GRCm39) |
V423M |
probably damaging |
Het |
Pira1 |
C |
A |
7: 3,739,337 (GRCm39) |
E510D |
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,146,108 (GRCm39) |
Q149K |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,955 (GRCm39) |
N1763K |
probably benign |
Het |
Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
Prpf39 |
A |
C |
12: 65,089,528 (GRCm39) |
N89H |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,587,537 (GRCm39) |
F743L |
probably damaging |
Het |
Raver2 |
A |
G |
4: 100,991,320 (GRCm39) |
|
probably null |
Het |
Ric8b |
T |
C |
10: 84,783,709 (GRCm39) |
L189P |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,495,957 (GRCm39) |
F13L |
probably benign |
Het |
Scd2 |
T |
C |
19: 44,291,448 (GRCm39) |
F296L |
probably damaging |
Het |
Scg2 |
G |
T |
1: 79,414,023 (GRCm39) |
D233E |
probably benign |
Het |
Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
T |
4: 113,636,286 (GRCm39) |
V644E |
unknown |
Het |
Slc44a5 |
G |
T |
3: 153,969,678 (GRCm39) |
V612F |
possibly damaging |
Het |
Snd1 |
C |
T |
6: 28,520,234 (GRCm39) |
R107* |
probably null |
Het |
Sun5 |
G |
T |
2: 153,702,589 (GRCm39) |
T189K |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,412,151 (GRCm39) |
E452V |
probably damaging |
Het |
Tcam1 |
A |
G |
11: 106,173,652 (GRCm39) |
N32S |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,067,715 (GRCm39) |
E2167G |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
Tmem175 |
T |
C |
5: 108,793,821 (GRCm39) |
V317A |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,874,139 (GRCm39) |
V231A |
probably benign |
Het |
Tspan12 |
A |
G |
6: 21,799,970 (GRCm39) |
S126P |
probably damaging |
Het |
Uvrag |
G |
T |
7: 98,637,398 (GRCm39) |
D143E |
probably damaging |
Het |
Vmn1r230 |
T |
A |
17: 21,067,036 (GRCm39) |
M75K |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,852,287 (GRCm39) |
F10I |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,049,284 (GRCm39) |
T822A |
probably benign |
Het |
Vmn2r67 |
T |
C |
7: 84,799,768 (GRCm39) |
Y490C |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,667,386 (GRCm39) |
W644R |
probably damaging |
Het |
Zeb1 |
A |
G |
18: 5,766,962 (GRCm39) |
D491G |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
A |
T |
2: 174,486,308 (GRCm39) |
T328S |
possibly damaging |
Het |
|
Other mutations in Pcdha11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01522:Pcdha11
|
APN |
18 |
37,318,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01843:Pcdha11
|
APN |
18 |
37,145,886 (GRCm39) |
missense |
probably benign |
0.28 |
R1165:Pcdha11
|
UTSW |
18 |
37,140,757 (GRCm39) |
intron |
probably benign |
|
R2422:Pcdha11
|
UTSW |
18 |
37,140,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R2423:Pcdha11
|
UTSW |
18 |
37,140,477 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2508:Pcdha11
|
UTSW |
18 |
37,145,907 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3114:Pcdha11
|
UTSW |
18 |
37,144,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4173:Pcdha11
|
UTSW |
18 |
37,145,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R4255:Pcdha11
|
UTSW |
18 |
37,145,843 (GRCm39) |
missense |
probably benign |
0.23 |
R4369:Pcdha11
|
UTSW |
18 |
37,139,796 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4454:Pcdha11
|
UTSW |
18 |
37,140,426 (GRCm39) |
missense |
probably benign |
0.13 |
R4489:Pcdha11
|
UTSW |
18 |
37,139,969 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4626:Pcdha11
|
UTSW |
18 |
37,140,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Pcdha11
|
UTSW |
18 |
37,139,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Pcdha11
|
UTSW |
18 |
37,138,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Pcdha11
|
UTSW |
18 |
37,138,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Pcdha11
|
UTSW |
18 |
37,144,505 (GRCm39) |
missense |
probably benign |
0.02 |
R4995:Pcdha11
|
UTSW |
18 |
37,144,080 (GRCm39) |
missense |
probably benign |
0.24 |
R5042:Pcdha11
|
UTSW |
18 |
37,144,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Pcdha11
|
UTSW |
18 |
37,138,935 (GRCm39) |
missense |
probably benign |
0.04 |
R5495:Pcdha11
|
UTSW |
18 |
37,144,079 (GRCm39) |
missense |
probably benign |
|
R5523:Pcdha11
|
UTSW |
18 |
37,145,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R5584:Pcdha11
|
UTSW |
18 |
37,139,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Pcdha11
|
UTSW |
18 |
37,144,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Pcdha11
|
UTSW |
18 |
37,145,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R5842:Pcdha11
|
UTSW |
18 |
37,144,337 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5859:Pcdha11
|
UTSW |
18 |
37,140,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:Pcdha11
|
UTSW |
18 |
37,144,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6135:Pcdha11
|
UTSW |
18 |
37,138,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Pcdha11
|
UTSW |
18 |
37,145,222 (GRCm39) |
splice site |
probably null |
|
R6450:Pcdha11
|
UTSW |
18 |
37,146,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6594:Pcdha11
|
UTSW |
18 |
37,144,235 (GRCm39) |
missense |
probably benign |
0.04 |
R6631:Pcdha11
|
UTSW |
18 |
37,138,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R6883:Pcdha11
|
UTSW |
18 |
37,144,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Pcdha11
|
UTSW |
18 |
37,138,470 (GRCm39) |
missense |
probably benign |
0.00 |
R7129:Pcdha11
|
UTSW |
18 |
37,140,291 (GRCm39) |
missense |
probably benign |
0.45 |
R7153:Pcdha11
|
UTSW |
18 |
37,144,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Pcdha11
|
UTSW |
18 |
37,144,421 (GRCm39) |
nonsense |
probably null |
|
R7295:Pcdha11
|
UTSW |
18 |
37,139,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Pcdha11
|
UTSW |
18 |
37,146,245 (GRCm39) |
missense |
probably benign |
0.10 |
R7352:Pcdha11
|
UTSW |
18 |
37,139,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Pcdha11
|
UTSW |
18 |
37,144,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7519:Pcdha11
|
UTSW |
18 |
37,139,319 (GRCm39) |
nonsense |
probably null |
|
R7660:Pcdha11
|
UTSW |
18 |
37,138,904 (GRCm39) |
missense |
probably benign |
0.17 |
R7677:Pcdha11
|
UTSW |
18 |
37,144,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Pcdha11
|
UTSW |
18 |
37,144,845 (GRCm39) |
missense |
probably benign |
0.00 |
R7775:Pcdha11
|
UTSW |
18 |
37,145,733 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7778:Pcdha11
|
UTSW |
18 |
37,145,733 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7780:Pcdha11
|
UTSW |
18 |
37,145,849 (GRCm39) |
missense |
probably damaging |
0.97 |
R7916:Pcdha11
|
UTSW |
18 |
37,140,441 (GRCm39) |
missense |
probably benign |
0.01 |
R7991:Pcdha11
|
UTSW |
18 |
37,145,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R8068:Pcdha11
|
UTSW |
18 |
37,138,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8220:Pcdha11
|
UTSW |
18 |
37,139,624 (GRCm39) |
missense |
probably benign |
0.01 |
R8252:Pcdha11
|
UTSW |
18 |
37,140,590 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8392:Pcdha11
|
UTSW |
18 |
37,139,212 (GRCm39) |
nonsense |
probably null |
|
R8398:Pcdha11
|
UTSW |
18 |
37,146,116 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8470:Pcdha11
|
UTSW |
18 |
37,145,937 (GRCm39) |
missense |
probably benign |
0.07 |
R8812:Pcdha11
|
UTSW |
18 |
37,140,716 (GRCm39) |
missense |
probably benign |
0.00 |
R8900:Pcdha11
|
UTSW |
18 |
37,145,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Pcdha11
|
UTSW |
18 |
37,145,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9065:Pcdha11
|
UTSW |
18 |
37,139,877 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9192:Pcdha11
|
UTSW |
18 |
37,140,527 (GRCm39) |
missense |
probably benign |
0.42 |
R9224:Pcdha11
|
UTSW |
18 |
37,139,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R9228:Pcdha11
|
UTSW |
18 |
37,144,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R9237:Pcdha11
|
UTSW |
18 |
37,145,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Pcdha11
|
UTSW |
18 |
37,144,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R9449:Pcdha11
|
UTSW |
18 |
37,145,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9475:Pcdha11
|
UTSW |
18 |
37,140,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Pcdha11
|
UTSW |
18 |
37,139,532 (GRCm39) |
missense |
probably benign |
0.26 |
R9510:Pcdha11
|
UTSW |
18 |
37,139,532 (GRCm39) |
missense |
probably benign |
0.26 |
R9578:Pcdha11
|
UTSW |
18 |
37,140,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9654:Pcdha11
|
UTSW |
18 |
37,145,333 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Pcdha11
|
UTSW |
18 |
37,138,577 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Pcdha11
|
UTSW |
18 |
37,145,976 (GRCm39) |
missense |
probably benign |
0.43 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCGTGTTTCCAACGACAG -3'
(R):5'- GTCTAATGACCACGGTACCATTTC -3'
Sequencing Primer
(F):5'- CGTGTTTCCAACGACAGAAAAG -3'
(R):5'- TACCAGCTTCACCCGATAGATTG -3'
|
Posted On |
2018-02-28 |