Incidental Mutation 'R5942:Pcdha1'
| ID |
460379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044134-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37063444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 36
(V36D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070797
AA Change: V36D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: V36D
| 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 |
noncoding transcript
Transcript: ENSMUST00000192440
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193839
AA Change: V36D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: V36D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.7%
- 20x: 89.5%
|
| 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]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,333 (GRCm39) |
V860M |
probably benign |
Het |
| Accs |
A |
T |
2: 93,666,392 (GRCm39) |
L432M |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,652,813 (GRCm39) |
N94Y |
possibly damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,380 (GRCm39) |
Q80R |
probably benign |
Het |
| Ccr8 |
G |
T |
9: 119,923,772 (GRCm39) |
V296F |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,583,985 (GRCm39) |
E798V |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,448,439 (GRCm39) |
E73D |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,010,129 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,117,466 (GRCm39) |
Y41* |
probably null |
Het |
| Enc1 |
G |
A |
13: 97,382,887 (GRCm39) |
D466N |
probably benign |
Het |
| Enpp1 |
C |
A |
10: 24,551,966 (GRCm39) |
E138* |
probably null |
Het |
| Entrep1 |
A |
G |
19: 23,963,834 (GRCm39) |
V245A |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,554,516 (GRCm39) |
R27G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,691,485 (GRCm39) |
N110S |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,721,534 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
G |
A |
2: 174,903,689 (GRCm39) |
Q73* |
probably null |
Het |
| Gpr156 |
C |
T |
16: 37,825,264 (GRCm39) |
P494S |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,192 (GRCm39) |
K508* |
probably null |
Het |
| Hc |
A |
T |
2: 34,918,137 (GRCm39) |
C715* |
probably null |
Het |
| Hook2 |
C |
T |
8: 85,721,409 (GRCm39) |
|
probably null |
Het |
| Klhdc7b |
A |
C |
15: 89,271,634 (GRCm39) |
I839L |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,516,792 (GRCm39) |
L1584P |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,223,941 (GRCm39) |
F358L |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mga |
A |
G |
2: 119,777,440 (GRCm39) |
I1871V |
probably benign |
Het |
| Mgmt |
T |
A |
7: 136,723,219 (GRCm39) |
D96E |
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,629,936 (GRCm39) |
T424K |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,464,888 (GRCm39) |
L462P |
probably damaging |
Het |
| Ncaph |
C |
A |
2: 126,958,608 (GRCm39) |
|
probably null |
Het |
| Nlrc3 |
A |
T |
16: 3,767,293 (GRCm39) |
D969E |
probably damaging |
Het |
| Nt5c3 |
A |
T |
6: 56,874,839 (GRCm39) |
|
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,646,684 (GRCm39) |
E5* |
probably null |
Het |
| Or5ac15 |
A |
T |
16: 58,940,039 (GRCm39) |
Y131* |
probably null |
Het |
| Or5d41 |
A |
C |
2: 88,054,916 (GRCm39) |
I153M |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,753,750 (GRCm39) |
N42S |
probably damaging |
Het |
| Parp14 |
C |
A |
16: 35,659,737 (GRCm39) |
M1628I |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,005,969 (GRCm39) |
P693Q |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,792,259 (GRCm39) |
D485G |
possibly damaging |
Het |
| Pcdhb5 |
C |
T |
18: 37,453,838 (GRCm39) |
Q73* |
probably null |
Het |
| Pecam1 |
G |
T |
11: 106,552,809 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,660,277 (GRCm39) |
I527V |
probably benign |
Het |
| Phf11 |
G |
A |
14: 59,497,593 (GRCm39) |
P13S |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,553,706 (GRCm39) |
V388D |
possibly damaging |
Het |
| Psmc4 |
C |
T |
7: 27,746,480 (GRCm39) |
V202I |
probably damaging |
Het |
| Ptx3 |
T |
G |
3: 66,127,484 (GRCm39) |
M1R |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,029,752 (GRCm39) |
T1059A |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,978,058 (GRCm39) |
A181V |
probably damaging |
Het |
| Rnase10 |
A |
T |
14: 51,246,735 (GRCm39) |
M38L |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,358,920 (GRCm39) |
Y118N |
probably damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,741,159 (GRCm39) |
T32A |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,180 (GRCm39) |
D954G |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,445,533 (GRCm39) |
N618S |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,888 (GRCm39) |
D1028G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,385,860 (GRCm39) |
D1379E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,505 (GRCm39) |
C23463S |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,250,619 (GRCm39) |
T745A |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,417 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,869 (GRCm39) |
T290K |
probably damaging |
Het |
| Wdr25 |
A |
G |
12: 108,864,392 (GRCm39) |
N179S |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,942,504 (GRCm39) |
Q1035* |
probably null |
Het |
| Yif1a |
C |
T |
19: 5,141,669 (GRCm39) |
R196C |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,307 (GRCm39) |
K482N |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Pcdha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Pcdha1
|
APN |
18 |
37,065,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Pcdha1
|
UTSW |
18 |
37,139,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0108:Pcdha1
|
UTSW |
18 |
37,131,809 (GRCm39) |
missense |
probably benign |
|
|
R0543:Pcdha1
|
UTSW |
18 |
37,318,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pcdha1
|
UTSW |
18 |
37,318,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pcdha1
|
UTSW |
18 |
37,065,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2301:Pcdha1
|
UTSW |
18 |
37,289,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Pcdha1
|
UTSW |
18 |
37,064,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Pcdha1
|
UTSW |
18 |
37,064,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3693:Pcdha1
|
UTSW |
18 |
37,065,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3783:Pcdha1
|
UTSW |
18 |
37,063,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha1
|
UTSW |
18 |
37,064,454 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4012:Pcdha1
|
UTSW |
18 |
37,064,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4540:Pcdha1
|
UTSW |
18 |
37,064,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Pcdha1
|
UTSW |
18 |
37,064,959 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4678:Pcdha1
|
UTSW |
18 |
37,063,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4998:Pcdha1
|
UTSW |
18 |
37,065,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Pcdha1
|
UTSW |
18 |
37,065,312 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5518:Pcdha1
|
UTSW |
18 |
37,065,415 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5673:Pcdha1
|
UTSW |
18 |
37,063,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Pcdha1
|
UTSW |
18 |
37,063,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Pcdha1
|
UTSW |
18 |
37,064,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Pcdha1
|
UTSW |
18 |
37,065,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Pcdha1
|
UTSW |
18 |
37,065,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Pcdha1
|
UTSW |
18 |
37,064,509 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6503:Pcdha1
|
UTSW |
18 |
37,064,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Pcdha1
|
UTSW |
18 |
37,064,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7011:Pcdha1
|
UTSW |
18 |
37,063,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pcdha1
|
UTSW |
18 |
37,292,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7314:Pcdha1
|
UTSW |
18 |
37,064,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Pcdha1
|
UTSW |
18 |
37,063,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7700:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7768:Pcdha1
|
UTSW |
18 |
37,065,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Pcdha1
|
UTSW |
18 |
37,065,511 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7800:Pcdha1
|
UTSW |
18 |
37,064,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pcdha1
|
UTSW |
18 |
37,065,254 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8325:Pcdha1
|
UTSW |
18 |
37,063,867 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8699:Pcdha1
|
UTSW |
18 |
37,064,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Pcdha1
|
UTSW |
18 |
37,064,760 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9513:Pcdha1
|
UTSW |
18 |
37,065,286 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9746:Pcdha1
|
UTSW |
18 |
37,065,713 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGCTTCATTTCGTCACCAG -3'
(R):5'- GTCGATCCGAGAATTCACAAAC -3'
Sequencing Primer
(F):5'- ATTTCGTCACCAGCCGAG -3'
(R):5'- CAAAATGCCATTCTGCAGATTTACC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation