Incidental Mutation 'R9400:Pcdha1'
| ID |
711082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37064760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 475
(I475V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
AA Change: I475V
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: I475V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: I475V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| 1700010I14Rik |
A |
G |
17: 9,211,118 (GRCm39) |
N89S |
probably benign |
Het |
| 9930111J21Rik1 |
C |
T |
11: 48,839,244 (GRCm39) |
E448K |
possibly damaging |
Het |
| Acer1 |
G |
A |
17: 57,288,990 (GRCm39) |
T40M |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,893 (GRCm39) |
T467A |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,476,981 (GRCm39) |
D129G |
probably damaging |
Het |
| Ak8 |
T |
A |
2: 28,650,011 (GRCm39) |
I346N |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,291,875 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,282 (GRCm39) |
L516R |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,075,855 (GRCm39) |
R402L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,641 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,319,844 (GRCm39) |
D380G |
|
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chst2 |
T |
C |
9: 95,287,642 (GRCm39) |
S235G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,616,953 (GRCm39) |
V899A |
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,273,703 (GRCm39) |
S617P |
probably damaging |
Het |
| Etv5 |
A |
T |
16: 22,220,476 (GRCm39) |
F304I |
probably benign |
Het |
| Fmo9 |
T |
G |
1: 166,505,243 (GRCm39) |
E50A |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,478,841 (GRCm39) |
E199G |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,028,541 (GRCm39) |
G893D |
probably damaging |
Het |
| Gorab |
G |
T |
1: 163,224,567 (GRCm39) |
P78Q |
probably damaging |
Het |
| Gprc5a |
A |
G |
6: 135,055,558 (GRCm39) |
T2A |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,275,683 (GRCm39) |
I581T |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,248 (GRCm39) |
F199S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,070,677 (GRCm39) |
V426E |
possibly damaging |
Het |
| Jag2 |
G |
T |
12: 112,875,608 (GRCm39) |
Y838* |
probably null |
Het |
| Kat6b |
G |
T |
14: 21,659,826 (GRCm39) |
R210L |
probably damaging |
Het |
| Kctd11 |
C |
A |
11: 69,770,544 (GRCm39) |
E165* |
probably null |
Het |
| Knl1 |
T |
C |
2: 118,931,224 (GRCm39) |
V1980A |
probably damaging |
Het |
| Lilrb4b |
T |
C |
10: 51,357,319 (GRCm39) |
S52P |
probably benign |
Het |
| Lrp5 |
T |
G |
19: 3,635,272 (GRCm39) |
M1535L |
probably benign |
Het |
| Lrr1 |
A |
G |
12: 69,221,476 (GRCm39) |
D206G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,899,677 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,502,025 (GRCm39) |
D241G |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,986,077 (GRCm39) |
Y237C |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,093 (GRCm39) |
E1489G |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,086,934 (GRCm39) |
H331R |
probably benign |
Het |
| Myoz1 |
T |
A |
14: 20,699,504 (GRCm39) |
H278L |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,554 (GRCm39) |
C240* |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,376,807 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4c104 |
A |
G |
2: 88,586,293 (GRCm39) |
I242T |
possibly damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,274 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Or5b24 |
T |
A |
19: 12,912,878 (GRCm39) |
Y259N |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,540,863 (GRCm39) |
|
probably null |
Het |
| Pcgf1 |
A |
G |
6: 83,057,066 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pip |
C |
A |
6: 41,828,782 (GRCm39) |
T109K |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,932,689 (GRCm39) |
E59G |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,053 (GRCm39) |
I237V |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,595,267 (GRCm39) |
V543A |
probably benign |
Het |
| Slc9a2 |
T |
C |
1: 40,758,211 (GRCm39) |
V250A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,050,214 (GRCm39) |
Y278H |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,630,863 (GRCm39) |
N248K |
probably benign |
Het |
| Spata6 |
T |
A |
4: 111,577,428 (GRCm39) |
C9S |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,885,293 (GRCm39) |
L587Q |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,830,293 (GRCm39) |
N916K |
possibly damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,385,516 (GRCm39) |
V319I |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,169,441 (GRCm39) |
I98K |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,215,367 (GRCm39) |
T1064A |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,175 (GRCm39) |
I332T |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,064 (GRCm39) |
L133Q |
probably damaging |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,687 (GRCm39) |
N167S |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,904 (GRCm39) |
C428S |
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 |
|
R5942:Pcdha1
|
UTSW |
18 |
37,063,444 (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 |
|
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'- CACAGCGGACTATAAGGTGGTG -3'
(R):5'- AGAGTCACATTGCTGCCCAG -3'
Sequencing Primer
(F):5'- CGGACTATAAGGTGGTGGTGAC -3'
(R):5'- TCACCTGGAACTGCAGCAG -3'
|
| Posted On |
2022-04-20 |
Incidental Mutation