Incidental Mutation 'R4125:Pcdhb13'
ID |
315380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb13
|
Ensembl Gene |
ENSMUSG00000047307 |
Gene Name |
protocadherin beta 13 |
Synonyms |
PcdhbM, Pcdbh6 |
MMRRC Submission |
041633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R4125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37576873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 417
(I417T)
|
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 |
probably damaging
Transcript: ENSMUST00000056915
AA Change: I417T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307 AA Change: I417T
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 |
0.4270 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (52/53) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
T |
A |
3: 98,068,679 (GRCm39) |
C43S |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,449,412 (GRCm39) |
Y274F |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
Atm |
A |
C |
9: 53,361,921 (GRCm39) |
L2732R |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Bmpr1a |
T |
C |
14: 34,156,690 (GRCm39) |
D112G |
probably benign |
Het |
Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,088,613 (GRCm39) |
I121V |
probably null |
Het |
Ctsr |
A |
T |
13: 61,309,659 (GRCm39) |
D183E |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,797,630 (GRCm39) |
E347G |
possibly damaging |
Het |
Fhip1a |
A |
G |
3: 85,572,690 (GRCm39) |
S988P |
possibly damaging |
Het |
Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
Gramd2b |
T |
C |
18: 56,618,296 (GRCm39) |
S199P |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,188 (GRCm39) |
I90F |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,921,141 (GRCm39) |
H1313Q |
possibly damaging |
Het |
Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
Kansl2 |
G |
T |
15: 98,429,636 (GRCm39) |
P132Q |
possibly damaging |
Het |
Lman1 |
T |
C |
18: 66,120,932 (GRCm39) |
H430R |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,699,686 (GRCm39) |
I2511T |
probably benign |
Het |
Lvrn |
C |
A |
18: 47,010,036 (GRCm39) |
P395T |
possibly damaging |
Het |
Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
Nectin4 |
A |
G |
1: 171,213,301 (GRCm39) |
S408G |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Or52ae9 |
T |
C |
7: 103,390,207 (GRCm39) |
K80R |
probably benign |
Het |
Per2 |
T |
C |
1: 91,357,172 (GRCm39) |
T664A |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,056,962 (GRCm39) |
L4347Q |
probably damaging |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,942,690 (GRCm39) |
F1177L |
probably benign |
Het |
Pramel24 |
C |
T |
4: 143,452,850 (GRCm39) |
R94* |
probably null |
Het |
Ptprb |
A |
T |
10: 116,189,754 (GRCm39) |
R1804S |
probably benign |
Het |
Rhof |
C |
T |
5: 123,257,588 (GRCm39) |
V181M |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc22a12 |
T |
C |
19: 6,588,818 (GRCm39) |
E281G |
probably damaging |
Het |
Slco6b1 |
T |
A |
1: 96,915,622 (GRCm39) |
|
noncoding transcript |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Tcof1 |
C |
A |
18: 60,952,673 (GRCm39) |
A898S |
unknown |
Het |
Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
Thoc6 |
A |
T |
17: 23,888,319 (GRCm39) |
|
probably benign |
Het |
Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,560,091 (GRCm39) |
L684P |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Umps |
G |
A |
16: 33,777,288 (GRCm39) |
Q431* |
probably null |
Het |
Unc13c |
A |
G |
9: 73,481,289 (GRCm39) |
|
probably null |
Het |
Vmn1r210 |
A |
T |
13: 23,011,779 (GRCm39) |
M169K |
probably benign |
Het |
Zfp946 |
C |
T |
17: 22,673,548 (GRCm39) |
Q101* |
probably null |
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 |
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 |
R7225:Pcdhb13
|
UTSW |
18 |
37,577,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- GCTCCAGAAGTGATCCTATCC -3'
(R):5'- CTGAGTCTGTGGCACTGATG -3'
Sequencing Primer
(F):5'- CCCTGAAAATTTGCCAGGTATC -3'
(R):5'- CACTGATGGTGCCTATGTGCAG -3'
|
Posted On |
2015-05-14 |