Incidental Mutation 'R5946:Pcdha2'
| ID |
472205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha2
|
| Ensembl Gene |
ENSMUSG00000104148 |
| Gene Name |
protocadherin alpha 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R5946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37074159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 597
(V597L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y17 |
| 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 |
possibly damaging
Transcript: ENSMUST00000115662
AA Change: V597L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: V597L
| 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: 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: 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 damaging
Transcript: ENSMUST00000195590
AA Change: V597L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
AA Change: V597L
| 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: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,678 (GRCm39) |
F1137S |
probably damaging |
Het |
| Actr6 |
G |
T |
10: 89,564,054 (GRCm39) |
Q73K |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,225,265 (GRCm39) |
G358D |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,508,084 (GRCm39) |
V94A |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,541,459 (GRCm39) |
Y57C |
probably damaging |
Het |
| Asb2 |
A |
G |
12: 103,287,814 (GRCm39) |
Y630H |
probably benign |
Het |
| Atp1a1 |
A |
T |
3: 101,497,090 (GRCm39) |
N405K |
probably benign |
Het |
| C6 |
G |
T |
15: 4,837,996 (GRCm39) |
D869Y |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,168 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,131 (GRCm39) |
E179V |
probably damaging |
Het |
| Chgb |
T |
A |
2: 132,634,516 (GRCm39) |
Y153N |
probably benign |
Het |
| Cit |
T |
A |
5: 116,135,593 (GRCm39) |
L1831Q |
probably damaging |
Het |
| Cpne8 |
C |
A |
15: 90,373,191 (GRCm39) |
*578L |
probably null |
Het |
| Cspg5 |
A |
G |
9: 110,080,151 (GRCm39) |
T440A |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,598,467 (GRCm39) |
V1393G |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,199,575 (GRCm39) |
D37G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,213,273 (GRCm39) |
I1063M |
probably benign |
Het |
| Efs |
T |
G |
14: 55,156,951 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
A |
G |
7: 34,991,257 (GRCm39) |
S596P |
probably damaging |
Het |
| Hbs1l |
C |
A |
10: 21,217,655 (GRCm39) |
H190Q |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,386,329 (GRCm39) |
V7A |
unknown |
Het |
| Ivd |
A |
T |
2: 118,707,370 (GRCm39) |
I295F |
possibly damaging |
Het |
| Kcnq5 |
A |
C |
1: 21,575,931 (GRCm39) |
S258A |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,247,334 (GRCm39) |
P331Q |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,063,922 (GRCm39) |
G1045C |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,558,701 (GRCm39) |
I233N |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,276,580 (GRCm39) |
L225P |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,371,644 (GRCm39) |
C2615Y |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,463,315 (GRCm39) |
F516L |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,851 (GRCm39) |
S1347R |
probably damaging |
Het |
| Ogn |
A |
G |
13: 49,771,761 (GRCm39) |
N207S |
probably benign |
Het |
| Or2h15 |
C |
A |
17: 38,441,598 (GRCm39) |
A162S |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,330 (GRCm39) |
L300Q |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,217,897 (GRCm39) |
Y2126F |
possibly damaging |
Het |
| Pgbd5 |
A |
T |
8: 125,101,056 (GRCm39) |
M400K |
possibly damaging |
Het |
| Pklr |
A |
T |
3: 89,043,503 (GRCm39) |
E5V |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,135,411 (GRCm39) |
D94E |
probably benign |
Het |
| Ppan |
C |
T |
9: 20,800,969 (GRCm39) |
Q111* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,143,926 (GRCm39) |
N330S |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,499 (GRCm39) |
W25R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,656,855 (GRCm39) |
H501Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,741,839 (GRCm39) |
D2114G |
probably damaging |
Het |
| Serinc2 |
G |
T |
4: 130,149,314 (GRCm39) |
T351K |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,587,881 (GRCm39) |
F358L |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,186,427 (GRCm39) |
V905G |
probably damaging |
Het |
| Tekt3 |
G |
C |
11: 62,985,573 (GRCm39) |
A460P |
probably damaging |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Tmc5 |
A |
T |
7: 118,269,948 (GRCm39) |
E899D |
probably damaging |
Het |
| Tmem268 |
C |
T |
4: 63,486,746 (GRCm39) |
P90S |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,717 (GRCm39) |
M55V |
probably benign |
Het |
| Trip10 |
T |
G |
17: 57,557,963 (GRCm39) |
V50G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,942 (GRCm39) |
C990* |
probably null |
Het |
| Uts2 |
A |
G |
4: 151,083,506 (GRCm39) |
D39G |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,964,560 (GRCm39) |
C49* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,440,146 (GRCm39) |
N431K |
probably null |
Het |
| Yeats2 |
C |
A |
16: 20,026,513 (GRCm39) |
Y796* |
probably null |
Het |
| Zfp592 |
G |
A |
7: 80,687,645 (GRCm39) |
G890D |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Pcdha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03052:Pcdha2
|
UTSW |
18 |
37,074,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Pcdha2
|
UTSW |
18 |
37,073,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Pcdha2
|
UTSW |
18 |
37,074,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Pcdha2
|
UTSW |
18 |
37,074,744 (GRCm39) |
nonsense |
probably null |
|
|
R3806:Pcdha2
|
UTSW |
18 |
37,072,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3815:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
|
R3816:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
|
R3937:Pcdha2
|
UTSW |
18 |
37,074,376 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3970:Pcdha2
|
UTSW |
18 |
37,073,750 (GRCm39) |
nonsense |
probably null |
|
|
R4058:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4059:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4179:Pcdha2
|
UTSW |
18 |
37,074,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Pcdha2
|
UTSW |
18 |
37,073,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Pcdha2
|
UTSW |
18 |
37,073,568 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4812:Pcdha2
|
UTSW |
18 |
37,072,861 (GRCm39) |
missense |
probably benign |
|
|
R4884:Pcdha2
|
UTSW |
18 |
37,073,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Pcdha2
|
UTSW |
18 |
37,073,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Pcdha2
|
UTSW |
18 |
37,073,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Pcdha2
|
UTSW |
18 |
37,072,915 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5460:Pcdha2
|
UTSW |
18 |
37,072,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Pcdha2
|
UTSW |
18 |
37,072,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6054:Pcdha2
|
UTSW |
18 |
37,073,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Pcdha2
|
UTSW |
18 |
37,072,438 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7465:Pcdha2
|
UTSW |
18 |
37,073,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Pcdha2
|
UTSW |
18 |
37,073,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7774:Pcdha2
|
UTSW |
18 |
37,074,579 (GRCm39) |
missense |
probably benign |
|
|
R7953:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8043:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8048:Pcdha2
|
UTSW |
18 |
37,072,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Pcdha2
|
UTSW |
18 |
37,073,316 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8414:Pcdha2
|
UTSW |
18 |
37,074,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Pcdha2
|
UTSW |
18 |
37,074,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8999:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9197:Pcdha2
|
UTSW |
18 |
37,072,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Pcdha2
|
UTSW |
18 |
37,073,546 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9781:Pcdha2
|
UTSW |
18 |
37,074,102 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Pcdha2
|
UTSW |
18 |
37,074,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTGCAGTTTCAGGTGAC -3'
(R):5'- ACTAACACTGTGGCTGTGGC -3'
Sequencing Primer
(F):5'- ACTGCGAGGGATGCTGG -3'
(R):5'- GAAGGCTCACCATGGTCCTTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation