Incidental Mutation 'R8900:Pcdha11'
ID |
679937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha11
|
Ensembl Gene |
ENSMUSG00000102206 |
Gene Name |
protocadherin alpha 11 |
Synonyms |
A830022B16Rik, Crnr7, Cnr7 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R8900 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37010712-37187657 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 37012746 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 630
(I630S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142270
(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 damaging
Transcript: ENSMUST00000115657
AA Change: I630S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111321 Gene: ENSMUSG00000102206 AA Change: I630S
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
|
SMART Domains |
Protein: ENSMUSP00000111322 Gene: ENSMUSG00000007440
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 damaging
Transcript: ENSMUST00000192447
AA Change: I630S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142270 Gene: ENSMUSG00000102206 AA Change: I630S
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (63/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430419D17Rik |
A |
T |
7: 131,302,468 |
|
probably benign |
Het |
Abca9 |
T |
C |
11: 110,154,392 |
T372A |
probably benign |
Het |
Adamts8 |
C |
A |
9: 30,954,634 |
R493S |
probably benign |
Het |
Ankrd33b |
G |
A |
15: 31,297,684 |
T309I |
probably damaging |
Het |
Arhgap22 |
G |
A |
14: 33,271,923 |
W58* |
probably null |
Het |
B4galt4 |
C |
T |
16: 38,752,042 |
|
probably benign |
Het |
Bcl2a1a |
A |
T |
9: 88,957,258 |
I70L |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,820,600 |
D97G |
possibly damaging |
Het |
Cand2 |
C |
T |
6: 115,780,933 |
T52M |
probably benign |
Het |
Cd101 |
C |
A |
3: 101,018,746 |
R219L |
probably benign |
Het |
Cd163l1 |
G |
A |
7: 140,228,565 |
W796* |
probably null |
Het |
Cd5l |
T |
A |
3: 87,367,575 |
D140E |
probably benign |
Het |
Cebpa |
A |
G |
7: 35,120,481 |
M355V |
possibly damaging |
Het |
Cfap74 |
G |
A |
4: 155,436,730 |
E620K |
|
Het |
Clec4a4 |
A |
G |
6: 123,023,916 |
E196G |
probably damaging |
Het |
Cpxm1 |
T |
A |
2: 130,393,440 |
D544V |
probably damaging |
Het |
Cwf19l2 |
T |
A |
9: 3,447,245 |
D535E |
probably benign |
Het |
Daw1 |
T |
G |
1: 83,198,177 |
L212R |
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,307,876 |
T443S |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,580,528 |
D1627G |
probably damaging |
Het |
Dohh |
A |
G |
10: 81,387,901 |
I263V |
probably benign |
Het |
Dsp |
G |
A |
13: 38,181,179 |
V513M |
probably damaging |
Het |
Dus4l |
G |
T |
12: 31,640,693 |
L320I |
possibly damaging |
Het |
Edc4 |
A |
C |
8: 105,891,225 |
Q1139P |
probably damaging |
Het |
Fam220a |
T |
A |
5: 143,563,473 |
C213* |
probably null |
Het |
Fgf14 |
A |
T |
14: 123,983,914 |
Y159* |
probably null |
Het |
Gm45861 |
A |
T |
8: 27,529,604 |
D749V |
unknown |
Het |
Hip1 |
T |
C |
5: 135,430,290 |
T203A |
probably benign |
Het |
Igfals |
A |
G |
17: 24,880,040 |
D35G |
possibly damaging |
Het |
Itga4 |
T |
A |
2: 79,314,988 |
I716K |
probably damaging |
Het |
Ncaph2 |
T |
A |
15: 89,369,391 |
I282N |
probably benign |
Het |
Ndufb3 |
T |
C |
1: 58,595,665 |
Y59H |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,844,660 |
H399R |
probably damaging |
Het |
Nxph1 |
T |
C |
6: 9,247,601 |
S191P |
probably damaging |
Het |
Olfr29-ps1 |
G |
T |
4: 43,781,432 |
S299R |
probably benign |
Het |
Olfr59 |
T |
C |
11: 74,289,587 |
S314P |
probably damaging |
Het |
Pfkl |
C |
G |
10: 78,000,781 |
G134A |
probably damaging |
Het |
Phf19 |
A |
T |
2: 34,905,472 |
C196S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,115,025 |
K468R |
probably benign |
Het |
Plekhn1 |
T |
C |
4: 156,225,621 |
S79G |
possibly damaging |
Het |
Pomk |
A |
G |
8: 25,983,356 |
Y190H |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,872,344 |
E33D |
probably damaging |
Het |
Raly |
A |
T |
2: 154,863,573 |
I174F |
probably damaging |
Het |
Rint1 |
T |
C |
5: 23,811,884 |
V549A |
possibly damaging |
Het |
Rnf31 |
T |
G |
14: 55,596,232 |
C566G |
probably damaging |
Het |
Sdc1 |
C |
T |
12: 8,790,460 |
T79I |
possibly damaging |
Het |
Sema6a |
T |
G |
18: 47,291,115 |
E242A |
probably damaging |
Het |
Slc22a30 |
A |
C |
19: 8,337,976 |
M430R |
probably damaging |
Het |
Sp9 |
C |
A |
2: 73,273,519 |
T139K |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,149,501 |
D29G |
probably benign |
Het |
Tcf4 |
T |
C |
18: 69,564,690 |
|
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,236,402 |
I2050N |
probably damaging |
Het |
Tiparp |
T |
A |
3: 65,553,182 |
F531I |
probably damaging |
Het |
Tmem132b |
A |
T |
5: 125,778,820 |
I539F |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,952,640 |
D666G |
probably damaging |
Het |
Vmn1r51 |
T |
C |
6: 90,129,860 |
S253P |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,041,662 |
I402T |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,363,753 |
Y609H |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,427,997 |
M245L |
probably benign |
Het |
Vmn2r42 |
C |
T |
7: 8,194,793 |
E276K |
probably benign |
Het |
Wdr75 |
C |
A |
1: 45,799,127 |
N65K |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,398,864 |
S1361P |
probably damaging |
Het |
Zfp317 |
T |
A |
9: 19,647,412 |
C396* |
probably null |
Het |
Zfp651 |
A |
C |
9: 121,767,639 |
K687T |
probably damaging |
Het |
|
Other mutations in Pcdha11 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATGACAATGCGCCCACG -3'
(R):5'- TTGACATCCACCAGCGATGC -3'
Sequencing Primer
(F):5'- TGCTGCCTCATGGAGCTG -3'
(R):5'- CACCAGCGATGCCTCCG -3'
|
Posted On |
2021-08-31 |