Incidental Mutation 'R8252:Pcdha11'
| ID |
640212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha11
|
| Ensembl Gene |
ENSMUSG00000102206 |
| Gene Name |
protocadherin alpha 11 |
| Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
| MMRRC Submission |
067678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R8252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37143911-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 37140590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 740
(V740L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000115658
AA Change: V740L
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: V740L
| 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: 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: 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: 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 |
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: 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: 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: 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 |
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: 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: ENSMUST00000193856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| 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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,861,284 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,816,881 (GRCm39) |
I644T |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,730,932 (GRCm39) |
D203E |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,518,706 (GRCm39) |
M337K |
probably benign |
Het |
| Atg13 |
G |
C |
2: 91,510,699 (GRCm39) |
P343A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,634,335 (GRCm39) |
V1058I |
|
Het |
| Cd180 |
A |
G |
13: 102,842,504 (GRCm39) |
T517A |
probably benign |
Het |
| Cd1d2 |
A |
C |
3: 86,894,375 (GRCm39) |
I48L |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,817,615 (GRCm39) |
C709Y |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,923,433 (GRCm39) |
D51G |
probably benign |
Het |
| Clec2g |
G |
A |
6: 128,958,335 (GRCm39) |
E184K |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,319,048 (GRCm39) |
H1014L |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,872 (GRCm39) |
H58L |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,708,586 (GRCm39) |
I363V |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,515,425 (GRCm39) |
G236W |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,810,305 (GRCm39) |
M459T |
probably benign |
Het |
| Iglc2 |
A |
T |
16: 19,017,520 (GRCm39) |
C27* |
probably null |
Het |
| Il36b |
A |
T |
2: 24,048,825 (GRCm39) |
T77S |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,358,262 (GRCm39) |
N135K |
probably damaging |
Het |
| Krt5 |
A |
T |
15: 101,620,794 (GRCm39) |
I151N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,936,142 (GRCm39) |
M606L |
probably benign |
Het |
| Lgr6 |
T |
A |
1: 134,931,215 (GRCm39) |
S280C |
probably null |
Het |
| Msh3 |
T |
A |
13: 92,357,569 (GRCm39) |
T967S |
probably damaging |
Het |
| Ndufb4 |
T |
C |
16: 37,474,637 (GRCm39) |
T29A |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,058 (GRCm39) |
M724V |
probably benign |
Het |
| Nudt12 |
T |
C |
17: 59,318,089 (GRCm39) |
Y52C |
probably damaging |
Het |
| Nutm1 |
G |
T |
2: 112,082,174 (GRCm39) |
Q301K |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,471,958 (GRCm39) |
I96N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,011 (GRCm39) |
R288G |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,704 (GRCm39) |
Y216F |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,472 (GRCm39) |
T1273A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,058 (GRCm39) |
D574G |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,392 (GRCm39) |
Q1719L |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,113,511 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,077,694 (GRCm39) |
I656V |
probably benign |
Het |
| Rab11fip2 |
C |
T |
19: 59,925,422 (GRCm39) |
S265N |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,398,373 (GRCm39) |
D53E |
probably benign |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,764 (GRCm39) |
E112G |
probably benign |
Het |
| Scml4 |
T |
C |
10: 42,800,100 (GRCm39) |
Y85H |
noncoding transcript |
Het |
| Setd5 |
T |
A |
6: 113,127,916 (GRCm39) |
Y1290N |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,873,298 (GRCm39) |
C375S |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,828,415 (GRCm39) |
V209A |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,410 (GRCm39) |
V776D |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,796 (GRCm39) |
M1K |
probably null |
Het |
| Slc26a7 |
T |
C |
4: 14,621,415 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
G |
T |
2: 121,918,820 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
A |
Y: 2,663,298 (GRCm39) |
A121S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,462,386 (GRCm39) |
T3719I |
probably damaging |
Het |
| Tcap |
T |
C |
11: 98,275,171 (GRCm39) |
S102P |
probably benign |
Het |
| Thap7 |
T |
C |
16: 17,346,486 (GRCm39) |
R166G |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,504,059 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,200,528 (GRCm39) |
M4692K |
unknown |
Het |
| Uvssa |
A |
G |
5: 33,549,523 (GRCm39) |
S395G |
probably benign |
Het |
| Vgll4 |
G |
T |
6: 114,867,695 (GRCm39) |
T52K |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,600,527 (GRCm39) |
L548P |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,134 (GRCm39) |
S158T |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,337 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,105,344 (GRCm39) |
C463S |
probably 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 |
|
R6248:Pcdha11
|
UTSW |
18 |
37,138,950 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
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'- AGCCACAGTGCTGGTTTCTC -3'
(R):5'- CCTGGCATGAAATGTACTTCAGGG -3'
Sequencing Primer
(F):5'- AAAGGCCTCTTCACGGGTG -3'
(R):5'- CATGAAATGTACTTCAGGGTTTTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation