Incidental Mutation 'R7225:Pcdhb13'
ID |
562124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb13
|
Ensembl Gene |
ENSMUSG00000047307 |
Gene Name |
protocadherin beta 13 |
Synonyms |
PcdhbM, Pcdbh6 |
MMRRC Submission |
045297-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R7225 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37577490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 623
(R623C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052387]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91Y06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052387
|
SMART Domains |
Protein: ENSMUSP00000054111 Gene: ENSMUSG00000044043
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
30 |
112 |
1.4e-35 |
PFAM |
CA
|
155 |
240 |
1.53e-20 |
SMART |
CA
|
264 |
345 |
3.52e-29 |
SMART |
CA
|
368 |
449 |
2.24e-22 |
SMART |
CA
|
473 |
559 |
2.38e-26 |
SMART |
CA
|
589 |
670 |
4.12e-12 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
4.9e-27 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056915
AA Change: R623C
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307 AA Change: R623C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
58 |
130 |
5.5e-1 |
SMART |
CA
|
154 |
239 |
8.55e-19 |
SMART |
CA
|
263 |
343 |
3.36e-26 |
SMART |
CA
|
366 |
447 |
2.24e-22 |
SMART |
CA
|
471 |
557 |
1.08e-24 |
SMART |
CA
|
587 |
668 |
1.25e-11 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
2.4e-23 |
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: ENSMUST00000193984
|
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 |
|
Meta Mutation Damage Score |
0.3516 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (62/63) |
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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. 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 neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
T |
C |
12: 110,637,299 (GRCm39) |
|
probably benign |
Het |
5730480H06Rik |
T |
A |
5: 48,537,575 (GRCm39) |
|
probably null |
Het |
Actn4 |
A |
T |
7: 28,598,124 (GRCm39) |
V492D |
probably damaging |
Het |
Alpk2 |
T |
C |
18: 65,438,270 (GRCm39) |
E1041G |
probably benign |
Het |
Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
Cd22 |
C |
T |
7: 30,577,059 (GRCm39) |
A83T |
not run |
Het |
Cdan1 |
T |
C |
2: 120,555,393 (GRCm39) |
T783A |
probably benign |
Het |
Cdh9 |
C |
T |
15: 16,856,159 (GRCm39) |
S733F |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,740,236 (GRCm39) |
F2282S |
unknown |
Het |
Chst9 |
T |
C |
18: 15,585,718 (GRCm39) |
K282E |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,270,396 (GRCm39) |
D232N |
probably damaging |
Het |
Clpb |
T |
A |
7: 101,360,672 (GRCm39) |
L234Q |
probably damaging |
Het |
Cluh |
T |
G |
11: 74,557,232 (GRCm39) |
|
probably null |
Het |
Cnp |
C |
T |
11: 100,471,413 (GRCm39) |
Q352* |
probably null |
Het |
Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
Dtx3 |
C |
T |
10: 127,027,358 (GRCm39) |
C272Y |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,756 (GRCm39) |
I1156T |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,055,917 (GRCm39) |
V1697E |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,390,058 (GRCm39) |
D211G |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,454,988 (GRCm39) |
K36R |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,034,325 (GRCm39) |
I2659T |
possibly damaging |
Het |
Fer1l5 |
T |
C |
1: 36,460,033 (GRCm39) |
W1893R |
possibly damaging |
Het |
Gorasp2 |
T |
A |
2: 70,514,391 (GRCm39) |
L256Q |
probably damaging |
Het |
Gpc5 |
T |
G |
14: 115,789,710 (GRCm39) |
V528G |
probably damaging |
Het |
Gria2 |
T |
A |
3: 80,709,938 (GRCm39) |
|
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,420,604 (GRCm39) |
E150G |
possibly damaging |
Het |
Jak3 |
C |
A |
8: 72,138,155 (GRCm39) |
Q869K |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,061,844 (GRCm39) |
V1218A |
probably benign |
Het |
Kcnf1 |
A |
G |
12: 17,225,694 (GRCm39) |
C176R |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,604,111 (GRCm39) |
V88A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,345 (GRCm39) |
D492V |
probably benign |
Het |
Lurap1l |
A |
C |
4: 80,829,718 (GRCm39) |
S43R |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,455,558 (GRCm39) |
H890R |
possibly damaging |
Het |
Mertk |
T |
G |
2: 128,643,482 (GRCm39) |
N960K |
possibly damaging |
Het |
Nudt9 |
C |
A |
5: 104,212,966 (GRCm39) |
D346E |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,717,294 (GRCm39) |
T360A |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,432,857 (GRCm39) |
|
probably null |
Het |
Or5an1 |
A |
T |
19: 12,260,831 (GRCm39) |
T140S |
probably benign |
Het |
Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
Paxbp1 |
T |
C |
16: 90,823,956 (GRCm39) |
E564G |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,410,337 (GRCm39) |
V2615F |
probably damaging |
Het |
Plin3 |
T |
C |
17: 56,593,541 (GRCm39) |
T58A |
possibly damaging |
Het |
Por |
A |
G |
5: 135,761,441 (GRCm39) |
D309G |
probably benign |
Het |
Ppp2r5e |
T |
C |
12: 75,515,353 (GRCm39) |
K261R |
probably damaging |
Het |
Ptpn18 |
C |
T |
1: 34,511,927 (GRCm39) |
T366I |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,000,928 (GRCm39) |
G1006E |
possibly damaging |
Het |
Rpl12 |
C |
T |
2: 32,851,909 (GRCm39) |
|
probably benign |
Het |
Rpsa |
T |
G |
9: 119,960,222 (GRCm39) |
F262V |
probably benign |
Het |
Sh3pxd2a |
G |
T |
19: 47,255,828 (GRCm39) |
N991K |
probably damaging |
Het |
Shank2 |
T |
A |
7: 143,838,762 (GRCm39) |
N19K |
probably benign |
Het |
Sik1 |
T |
C |
17: 32,073,274 (GRCm39) |
T61A |
probably benign |
Het |
Sipa1l3 |
A |
C |
7: 29,098,853 (GRCm39) |
V472G |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,458,315 (GRCm39) |
S313P |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,912,081 (GRCm39) |
|
probably benign |
Het |
Sox13 |
A |
T |
1: 133,314,862 (GRCm39) |
V266E |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,988,184 (GRCm39) |
C833R |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,961,520 (GRCm39) |
T812A |
unknown |
Het |
Tnfsf4 |
A |
G |
1: 161,244,821 (GRCm39) |
D170G |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,082 (GRCm39) |
N357S |
probably damaging |
Het |
Txk |
C |
T |
5: 72,858,057 (GRCm39) |
D418N |
probably damaging |
Het |
Ube2j2 |
A |
G |
4: 156,033,773 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
G |
A |
10: 130,222,552 (GRCm39) |
P556L |
probably damaging |
Het |
Zfp1007 |
T |
C |
5: 109,825,015 (GRCm39) |
H145R |
possibly damaging |
Het |
Zfp442 |
T |
C |
2: 150,250,925 (GRCm39) |
N326D |
probably benign |
Het |
|
Other mutations in Pcdhb13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00654:Pcdhb13
|
APN |
18 |
37,576,774 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL00718:Pcdhb13
|
APN |
18 |
37,577,874 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01143:Pcdhb13
|
APN |
18 |
37,575,690 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01816:Pcdhb13
|
APN |
18 |
37,576,028 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01916:Pcdhb13
|
APN |
18 |
37,576,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02063:Pcdhb13
|
APN |
18 |
37,577,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02153:Pcdhb13
|
APN |
18 |
37,576,738 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02332:Pcdhb13
|
APN |
18 |
37,576,635 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02407:Pcdhb13
|
APN |
18 |
37,576,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:Pcdhb13
|
APN |
18 |
37,577,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02514:Pcdhb13
|
APN |
18 |
37,576,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03025:Pcdhb13
|
APN |
18 |
37,575,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03227:Pcdhb13
|
APN |
18 |
37,576,711 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03233:Pcdhb13
|
APN |
18 |
37,577,318 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03239:Pcdhb13
|
APN |
18 |
37,575,888 (GRCm39) |
missense |
probably damaging |
0.97 |
R0046:Pcdhb13
|
UTSW |
18 |
37,577,310 (GRCm39) |
missense |
probably benign |
|
R0172:Pcdhb13
|
UTSW |
18 |
37,575,990 (GRCm39) |
missense |
probably benign |
0.00 |
R0201:Pcdhb13
|
UTSW |
18 |
37,575,634 (GRCm39) |
missense |
probably benign |
|
R0594:Pcdhb13
|
UTSW |
18 |
37,576,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1235:Pcdhb13
|
UTSW |
18 |
37,578,012 (GRCm39) |
makesense |
probably null |
|
R1292:Pcdhb13
|
UTSW |
18 |
37,576,885 (GRCm39) |
missense |
probably benign |
0.43 |
R1481:Pcdhb13
|
UTSW |
18 |
37,575,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Pcdhb13
|
UTSW |
18 |
37,576,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2058:Pcdhb13
|
UTSW |
18 |
37,577,620 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3508:Pcdhb13
|
UTSW |
18 |
37,576,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R3713:Pcdhb13
|
UTSW |
18 |
37,576,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R4125:Pcdhb13
|
UTSW |
18 |
37,576,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Pcdhb13
|
UTSW |
18 |
37,576,571 (GRCm39) |
missense |
probably benign |
0.01 |
R4747:Pcdhb13
|
UTSW |
18 |
37,577,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R4957:Pcdhb13
|
UTSW |
18 |
37,577,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4973:Pcdhb13
|
UTSW |
18 |
37,576,237 (GRCm39) |
missense |
probably benign |
0.20 |
R5354:Pcdhb13
|
UTSW |
18 |
37,577,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Pcdhb13
|
UTSW |
18 |
37,576,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5544:Pcdhb13
|
UTSW |
18 |
37,576,573 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5897:Pcdhb13
|
UTSW |
18 |
37,576,264 (GRCm39) |
missense |
probably benign |
0.42 |
R6174:Pcdhb13
|
UTSW |
18 |
37,576,474 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6702:Pcdhb13
|
UTSW |
18 |
37,577,828 (GRCm39) |
missense |
probably benign |
0.42 |
R6765:Pcdhb13
|
UTSW |
18 |
37,576,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6960:Pcdhb13
|
UTSW |
18 |
37,576,509 (GRCm39) |
missense |
probably benign |
0.45 |
R7144:Pcdhb13
|
UTSW |
18 |
37,576,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R7239:Pcdhb13
|
UTSW |
18 |
37,577,697 (GRCm39) |
missense |
probably damaging |
0.99 |
R7437:Pcdhb13
|
UTSW |
18 |
37,577,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Pcdhb13
|
UTSW |
18 |
37,575,645 (GRCm39) |
missense |
probably benign |
0.00 |
R7964:Pcdhb13
|
UTSW |
18 |
37,577,871 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8334:Pcdhb13
|
UTSW |
18 |
37,577,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8463:Pcdhb13
|
UTSW |
18 |
37,576,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8476:Pcdhb13
|
UTSW |
18 |
37,577,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R8501:Pcdhb13
|
UTSW |
18 |
37,577,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R9248:Pcdhb13
|
UTSW |
18 |
37,577,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Pcdhb13
|
UTSW |
18 |
37,576,153 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Pcdhb13
|
UTSW |
18 |
37,576,066 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Pcdhb13
|
UTSW |
18 |
37,577,695 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1176:Pcdhb13
|
UTSW |
18 |
37,576,288 (GRCm39) |
nonsense |
probably null |
|
Z1177:Pcdhb13
|
UTSW |
18 |
37,575,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGACAATGCGCCCTTCG -3'
(R):5'- GTGAGCGCATCTTCAGCATC -3'
Sequencing Primer
(F):5'- TGCTCTACCCGATGCAGAATG -3'
(R):5'- TCCTCTGTGGAGTCCTGCG -3'
|
Posted On |
2019-06-26 |