Incidental Mutation 'R7239:Pcdhb13'
| ID |
563115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb13
|
| Ensembl Gene |
ENSMUSG00000047307 |
| Gene Name |
protocadherin beta 13 |
| Synonyms |
PcdhbM, Pcdbh6 |
| MMRRC Submission |
045346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R7239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37577697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 692
(I692F)
|
| 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: I692F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: I692F
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,472,268 (GRCm39) |
V144A |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,217,530 (GRCm39) |
Y109N |
possibly damaging |
Het |
| Abcb5 |
T |
C |
12: 118,892,460 (GRCm39) |
Q433R |
probably benign |
Het |
| Adamts7 |
G |
A |
9: 90,068,610 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,624,731 (GRCm39) |
D3746G |
possibly damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,599 (GRCm39) |
S159L |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,700,129 (GRCm39) |
P77L |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,754 (GRCm39) |
D257G |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,539,224 (GRCm39) |
N52K |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,507 (GRCm39) |
M562T |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,940,192 (GRCm39) |
Q713* |
probably null |
Het |
| Cd96 |
A |
T |
16: 45,929,477 (GRCm39) |
L156Q |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,360,662 (GRCm39) |
T231A |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnmt3a |
A |
T |
12: 3,922,850 (GRCm39) |
Q151L |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,677 (GRCm39) |
V1629M |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,831,341 (GRCm39) |
D601N |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,745,228 (GRCm39) |
V20M |
probably damaging |
Het |
| Eny2 |
A |
C |
15: 44,297,250 (GRCm39) |
D52A |
probably benign |
Het |
| Esp36 |
T |
C |
17: 38,728,132 (GRCm39) |
R93G |
possibly damaging |
Het |
| Fam227a |
A |
G |
15: 79,518,263 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,037,989 (GRCm39) |
H3880Q |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,434,598 (GRCm39) |
V334E |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,329 (GRCm39) |
Q406R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,274,034 (GRCm39) |
N1092S |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,799,287 (GRCm39) |
T82K |
probably benign |
Het |
| Gnas |
G |
C |
2: 174,140,408 (GRCm39) |
G252R |
unknown |
Het |
| Gpatch2l |
A |
G |
12: 86,307,349 (GRCm39) |
|
probably null |
Het |
| H2ac6 |
A |
T |
13: 23,867,593 (GRCm39) |
I103N |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,541,187 (GRCm39) |
V204A |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,477,113 (GRCm39) |
L119P |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,952,193 (GRCm39) |
E56K |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,516 (GRCm39) |
I474T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,318,529 (GRCm39) |
V556A |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,081 (GRCm39) |
M382K |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,292,745 (GRCm39) |
V199A |
possibly damaging |
Het |
| Lpcat4 |
T |
A |
2: 112,073,052 (GRCm39) |
F200I |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,725 (GRCm39) |
T2282A |
|
Het |
| Lrrk1 |
T |
C |
7: 65,911,903 (GRCm39) |
T1886A |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,889,484 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,301,905 (GRCm39) |
R1043K |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,601 (GRCm39) |
R156L |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,090 (GRCm39) |
H804Q |
probably damaging |
Het |
| Ndst3 |
T |
G |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,619 (GRCm39) |
|
probably null |
Het |
| Npy |
A |
G |
6: 49,800,587 (GRCm39) |
N4D |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,487 (GRCm39) |
Y218F |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,008,748 (GRCm39) |
S18G |
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,551 (GRCm39) |
F207V |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,015,384 (GRCm39) |
V200E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,543,981 (GRCm39) |
L345I |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,113,472 (GRCm39) |
A315T |
probably damaging |
Het |
| Rnf111 |
G |
A |
9: 70,376,655 (GRCm39) |
T328I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,614 (GRCm39) |
L3825P |
|
Het |
| Rtl1 |
C |
T |
12: 109,558,909 (GRCm39) |
V977I |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,108,000 (GRCm39) |
|
probably null |
Het |
| Slc25a2 |
G |
T |
18: 37,770,748 (GRCm39) |
N260K |
probably benign |
Het |
| Sprtn |
T |
C |
8: 125,626,983 (GRCm39) |
V121A |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,133,771 (GRCm39) |
L260W |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,424,615 (GRCm39) |
R406C |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,017,372 (GRCm39) |
R6G |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,385,020 (GRCm39) |
V526I |
possibly damaging |
Het |
| Tfap2b |
T |
C |
1: 19,304,404 (GRCm39) |
F405L |
probably damaging |
Het |
| Trbv13-1 |
C |
A |
6: 41,093,325 (GRCm39) |
T87K |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,732,130 (GRCm39) |
A87E |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,617,634 (GRCm39) |
D16279G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,590 (GRCm39) |
I14L |
probably benign |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,602 (GRCm39) |
P116L |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,887 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,795,956 (GRCm39) |
C235S |
probably damaging |
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 |
|
R7225:Pcdhb13
|
UTSW |
18 |
37,577,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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'- ACGGAGCCTGGACTGTTTAG -3'
(R):5'- CATACTGGTAGCTCTGGGAAAG -3'
Sequencing Primer
(F):5'- CGCACAATGGCGAAGTGC -3'
(R):5'- AAAGAGTCCCAGCGCCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation