Incidental Mutation 'R7660:Pcdha11'
| ID |
591542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha11
|
| Ensembl Gene |
ENSMUSG00000102206 |
| Gene Name |
protocadherin alpha 11 |
| Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
| MMRRC Submission |
045735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7660 (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 A
at 37138904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 178
(Y178N)
|
| 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 |
probably benign
Transcript: ENSMUST00000115658
AA Change: Y178N
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: Y178N
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (70/70) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,512 (GRCm39) |
H142L |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,689 (GRCm39) |
I64M |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,240,678 (GRCm39) |
E847G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,278 (GRCm39) |
T1276S |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,117,938 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
G |
C |
3: 127,474,616 (GRCm39) |
H462Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atm |
C |
T |
9: 53,356,807 (GRCm39) |
V2815M |
probably benign |
Het |
| Braf |
T |
C |
6: 39,600,575 (GRCm39) |
I681V |
possibly damaging |
Het |
| Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,874,831 (GRCm39) |
D759G |
probably damaging |
Het |
| Csrp2 |
A |
G |
10: 110,773,624 (GRCm39) |
N103S |
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,719,034 (GRCm39) |
H380L |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,514,334 (GRCm39) |
A888T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,035,309 (GRCm39) |
Q2987L |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,578 (GRCm39) |
T665S |
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,519,231 (GRCm39) |
S343P |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,060,954 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gm3278 |
T |
G |
14: 16,080,387 (GRCm39) |
L66R |
probably damaging |
Het |
| Ifi205 |
A |
G |
1: 173,855,814 (GRCm39) |
V72A |
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,270,798 (GRCm39) |
L708R |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,458,836 (GRCm39) |
L328M |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,401,709 (GRCm39) |
I23T |
probably damaging |
Het |
| Ldha |
C |
T |
7: 46,499,681 (GRCm39) |
P100S |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,085,158 (GRCm39) |
L210H |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,829,816 (GRCm39) |
I600L |
probably benign |
Het |
| Map2 |
C |
A |
1: 66,453,536 (GRCm39) |
P809T |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,874 (GRCm39) |
C577* |
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,092 (GRCm39) |
K439R |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,789,868 (GRCm39) |
G494S |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,495,406 (GRCm39) |
F488L |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,469,248 (GRCm39) |
T8K |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,384,716 (GRCm39) |
T523A |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,911,241 (GRCm39) |
P1334S |
probably benign |
Het |
| Neb |
T |
G |
2: 52,139,451 (GRCm39) |
M119L |
|
Het |
| Nox4 |
T |
C |
7: 87,019,230 (GRCm39) |
Y408H |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,664,690 (GRCm39) |
R510Q |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,787 (GRCm39) |
T177A |
probably benign |
Het |
| Or4f52 |
C |
T |
2: 111,061,960 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,041 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c214 |
C |
A |
10: 129,590,432 (GRCm39) |
E296* |
probably null |
Het |
| Or7g23 |
T |
C |
9: 19,086,804 (GRCm39) |
H56R |
probably benign |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,174 (GRCm39) |
S116T |
possibly damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,326,573 (GRCm39) |
Y263C |
probably benign |
Het |
| Pcdhga11 |
C |
T |
18: 37,890,183 (GRCm39) |
T397M |
possibly damaging |
Het |
| Pdlim5 |
G |
T |
3: 141,964,946 (GRCm39) |
H428N |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,619,349 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,883 (GRCm39) |
E68K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,869,995 (GRCm39) |
Q428K |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,995 (GRCm39) |
I32K |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,780,622 (GRCm39) |
T276A |
probably benign |
Het |
| Sgo2b |
G |
A |
8: 64,393,108 (GRCm39) |
H110Y |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,208 (GRCm39) |
L833S |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,229,241 (GRCm39) |
|
probably null |
Het |
| Srfbp1 |
G |
A |
18: 52,608,671 (GRCm39) |
V24I |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,407,458 (GRCm39) |
N537Y |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,087,782 (GRCm39) |
S1766T |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,532,880 (GRCm39) |
M1K |
probably null |
Het |
| Tmem245 |
A |
T |
4: 56,899,170 (GRCm39) |
I661K |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,569 (GRCm39) |
H124R |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 125,547,024 (GRCm39) |
L478Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,646,357 (GRCm39) |
D282G |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,793 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,824,629 (GRCm39) |
D551E |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,767 (GRCm39) |
V128A |
not run |
Het |
| Vmn2r130 |
T |
A |
17: 23,296,006 (GRCm39) |
D725E |
probably damaging |
Het |
| Vmn2r70 |
T |
G |
7: 85,218,130 (GRCm39) |
N56T |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,517,945 (GRCm39) |
V501A |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,772,742 (GRCm39) |
T249A |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,654,501 (GRCm39) |
C332R |
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 |
|
|
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'- TGCAGGTTTTCCACGTGGAG -3'
(R):5'- CAGCTTCACCCGATAGATTGCTC -3'
Sequencing Primer
(F):5'- GGTGGAGGTGAGGGATATTAATGAC -3'
(R):5'- GCGCATTGTCATTTGCATCTAGAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation