Incidental Mutation 'R9475:Pcdha11'
ID |
715739 |
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 # |
R9475 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37010712-37187657 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37007538 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 740
(V740E)
|
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 damaging
Transcript: ENSMUST00000115658
AA Change: V740E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000111322 Gene: ENSMUSG00000007440 AA Change: V740E
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
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 |
Abcc6 |
A |
T |
7: 46,016,468 |
W243R |
probably damaging |
Het |
Ablim1 |
T |
G |
19: 57,239,180 |
K18Q |
probably benign |
Het |
Adamts18 |
T |
A |
8: 113,777,938 |
N174Y |
possibly damaging |
Het |
Agbl2 |
A |
G |
2: 90,784,093 |
H23R |
probably benign |
Het |
Akap6 |
T |
G |
12: 53,010,552 |
Y934D |
probably damaging |
Het |
Alas1 |
C |
T |
9: 106,234,062 |
S635N |
probably benign |
Het |
Ankrd24 |
A |
G |
10: 81,642,299 |
|
probably null |
Het |
Atp6v0a4 |
A |
G |
6: 38,060,982 |
L560P |
probably damaging |
Het |
Cacng1 |
C |
T |
11: 107,716,292 |
V34M |
possibly damaging |
Het |
Clcn3 |
C |
T |
8: 60,934,517 |
A233T |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,799,135 |
F160S |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,881,130 |
S719G |
probably damaging |
Het |
Exosc2 |
G |
A |
2: 31,674,743 |
V107I |
probably benign |
Het |
Fam83b |
C |
A |
9: 76,491,803 |
V673F |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,780,070 |
F3781L |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,998,660 |
L289H |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,148,313 |
I329V |
probably benign |
Het |
Gli3 |
G |
A |
13: 15,725,711 |
G1228S |
possibly damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,574,361 |
F72S |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,548,261 |
M53L |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,266,277 |
|
probably benign |
Het |
Iqcm |
A |
G |
8: 75,753,455 |
E347G |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,118,677 |
|
probably benign |
Het |
Kcnrg |
A |
G |
14: 61,607,657 |
I49V |
possibly damaging |
Het |
Lrrc8e |
G |
A |
8: 4,235,346 |
G524S |
probably benign |
Het |
Lrrn1 |
A |
T |
6: 107,568,300 |
Y353F |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,739,849 |
D3701G |
possibly damaging |
Het |
Mtmr2 |
A |
G |
9: 13,805,471 |
T623A |
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,714,647 |
S287* |
probably null |
Het |
Ntrk3 |
A |
C |
7: 78,302,732 |
M579R |
probably benign |
Het |
Oas1a |
G |
A |
5: 120,899,254 |
L237F |
probably damaging |
Het |
Olfr1350 |
A |
T |
7: 6,570,819 |
Y276F |
probably damaging |
Het |
Olfr169 |
T |
C |
16: 19,566,520 |
D121G |
probably benign |
Het |
Olfr857 |
T |
C |
9: 19,713,643 |
M272T |
probably benign |
Het |
Paqr5 |
T |
A |
9: 61,956,225 |
I272F |
probably damaging |
Het |
Pdgfra |
A |
C |
5: 75,167,927 |
N240T |
possibly damaging |
Het |
Plbd2 |
G |
A |
5: 120,494,380 |
Q186* |
probably null |
Het |
Plce1 |
G |
A |
19: 38,777,893 |
E2121K |
possibly damaging |
Het |
Ppargc1a |
C |
A |
5: 51,495,738 |
G161C |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,334,480 |
I166T |
possibly damaging |
Het |
Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 37,878,114 |
|
probably benign |
Het |
Rpap2 |
T |
A |
5: 107,620,589 |
L431Q |
probably damaging |
Het |
Rslcan18 |
T |
A |
13: 67,102,064 |
K160* |
probably null |
Het |
Sema7a |
T |
C |
9: 57,954,905 |
F180L |
probably benign |
Het |
Sh2d3c |
C |
T |
2: 32,753,027 |
L741F |
probably damaging |
Het |
Shank1 |
G |
A |
7: 44,312,918 |
S71N |
unknown |
Het |
Skint6 |
C |
T |
4: 112,806,840 |
|
probably null |
Het |
Skiv2l |
A |
T |
17: 34,841,102 |
D897E |
probably benign |
Het |
Slc35f3 |
T |
C |
8: 126,382,254 |
S181P |
probably damaging |
Het |
Slc4a9 |
A |
T |
18: 36,529,216 |
E127V |
probably null |
Het |
Spata5 |
T |
C |
3: 37,431,909 |
V260A |
probably benign |
Het |
Speg |
C |
T |
1: 75,388,091 |
T372I |
probably damaging |
Het |
Syce1l |
A |
G |
8: 113,655,103 |
T204A |
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,612,458 |
M285L |
probably benign |
Het |
Tbc1d10a |
G |
C |
11: 4,213,604 |
K285N |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,346,454 |
M239L |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,209,280 |
S1293P |
probably benign |
Het |
Uaca |
C |
T |
9: 60,872,216 |
T1295M |
possibly damaging |
Het |
Ubald1 |
G |
T |
16: 4,875,569 |
Q161K |
possibly damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,216,260 |
R201C |
probably damaging |
Het |
Vps45 |
T |
G |
3: 96,042,925 |
T231P |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 54,635,477 |
D1186E |
probably benign |
Het |
Zfp534 |
G |
A |
4: 147,682,274 |
T8I |
probably benign |
Het |
Zfp68 |
T |
C |
5: 138,607,255 |
N269D |
probably benign |
Het |
|
Other mutations in Pcdha11 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAGTGCTGGTTTCTCTG -3'
(R):5'- CTGGCATGAAATGTACTTCAGGG -3'
Sequencing Primer
(F):5'- AAAGGCCTCTTCACGGGTG -3'
(R):5'- CATGAAATGTACTTCAGGGTTTTTG -3'
|
Posted On |
2022-06-15 |