Incidental Mutation 'R7271:Pcdhb4'
| ID |
565325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| MMRRC Submission |
045356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37441222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 177
(H177Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051754]
[ENSMUST00000056712]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051754
|
| SMART Domains |
Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
CA
|
44 |
131 |
6.29e-1 |
SMART |
|
CA
|
155 |
240 |
7.16e-21 |
SMART |
|
CA
|
264 |
345 |
1.22e-23 |
SMART |
|
CA
|
368 |
449 |
2.86e-20 |
SMART |
|
CA
|
473 |
559 |
2.55e-26 |
SMART |
|
CA
|
589 |
670 |
1.11e-8 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
770 |
9.9e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056712
AA Change: H177Q
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: H177Q
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
54 |
131 |
1.66e0 |
SMART |
|
CA
|
155 |
240 |
1.07e-19 |
SMART |
|
CA
|
264 |
344 |
6.03e-28 |
SMART |
|
CA
|
367 |
448 |
2.57e-22 |
SMART |
|
CA
|
472 |
558 |
3.36e-26 |
SMART |
|
CA
|
588 |
669 |
3.48e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1e-25 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
C |
T |
10: 42,291,544 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alpk3 |
A |
G |
7: 80,728,202 (GRCm39) |
E444G |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,123 (GRCm39) |
D439E |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,781 (GRCm39) |
Y222C |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,421,944 (GRCm39) |
K827Q |
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,576,047 (GRCm39) |
|
|
Het |
| Casp7 |
T |
A |
19: 56,424,793 (GRCm39) |
C171S |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,164 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdkl1 |
A |
G |
12: 69,795,585 (GRCm39) |
L315S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,148,708 (GRCm39) |
I240T |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,619 (GRCm39) |
S1163* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 17,077,295 (GRCm39) |
W121R |
probably damaging |
Het |
| Cyyr1 |
A |
T |
16: 85,262,493 (GRCm39) |
M88K |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,049,954 (GRCm39) |
Q587R |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,223,750 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Dynap |
T |
A |
18: 70,374,320 (GRCm39) |
T69S |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,733,874 (GRCm39) |
C225R |
probably damaging |
Het |
| Fbxo31 |
C |
T |
8: 122,305,503 (GRCm39) |
|
probably benign |
Het |
| Fndc11 |
G |
A |
2: 180,863,893 (GRCm39) |
V233I |
possibly damaging |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,433,758 (GRCm39) |
L223P |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,357,042 (GRCm39) |
H20Q |
probably damaging |
Het |
| Impa2 |
T |
A |
18: 67,439,806 (GRCm39) |
I101N |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,570 (GRCm39) |
T854S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,423 (GRCm39) |
C385S |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,853 (GRCm39) |
S543G |
probably benign |
Het |
| Manba |
A |
T |
3: 135,248,137 (GRCm39) |
Y342F |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,893,231 (GRCm39) |
D758G |
probably benign |
Het |
| Mtor |
G |
T |
4: 148,630,942 (GRCm39) |
A2300S |
possibly damaging |
Het |
| Musk |
T |
A |
4: 58,373,409 (GRCm39) |
M793K |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Or10ab4 |
G |
A |
7: 107,654,423 (GRCm39) |
R78Q |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,725 (GRCm39) |
N30K |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,693 (GRCm39) |
T239A |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,953 (GRCm39) |
Y259* |
probably null |
Het |
| Pcdh12 |
C |
A |
18: 38,416,100 (GRCm39) |
V342F |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,690 (GRCm39) |
A587V |
probably benign |
Het |
| Phkb |
C |
T |
8: 86,770,418 (GRCm39) |
P896S |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,543,877 (GRCm39) |
S165P |
probably benign |
Het |
| Prss43 |
A |
G |
9: 110,657,671 (GRCm39) |
D190G |
probably damaging |
Het |
| Psmd14 |
T |
C |
2: 61,591,356 (GRCm39) |
V53A |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,273,704 (GRCm39) |
H1054P |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,631 (GRCm39) |
R70G |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,378,617 (GRCm39) |
Q21R |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,288 (GRCm39) |
E262G |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,384 (GRCm39) |
L407P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,325 (GRCm39) |
V266A |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,913 (GRCm39) |
R738S |
probably benign |
Het |
| Speer4a2 |
G |
A |
5: 26,292,993 (GRCm39) |
T67I |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,442,715 (GRCm39) |
G38S |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,838,972 (GRCm39) |
|
probably null |
Het |
| Syde2 |
A |
G |
3: 145,726,031 (GRCm39) |
N1308D |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,611 (GRCm39) |
M1151K |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,727,820 (GRCm39) |
I861F |
possibly damaging |
Het |
| Zfp319 |
G |
A |
8: 96,058,471 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,831,907 (GRCm39) |
N33D |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,591,415 (GRCm39) |
I90F |
probably benign |
Het |
| Zmiz2 |
G |
T |
11: 6,349,593 (GRCm39) |
V412L |
probably damaging |
Het |
|
| Other mutations in Pcdhb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Pcdhb4
|
APN |
18 |
37,442,969 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01319:Pcdhb4
|
APN |
18 |
37,441,566 (GRCm39) |
missense |
probably benign |
|
|
IGL01325:Pcdhb4
|
APN |
18 |
37,442,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb4
|
APN |
18 |
37,441,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Pcdhb4
|
APN |
18 |
37,442,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01962:Pcdhb4
|
APN |
18 |
37,442,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02280:Pcdhb4
|
APN |
18 |
37,440,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02622:Pcdhb4
|
APN |
18 |
37,442,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03025:Pcdhb4
|
APN |
18 |
37,443,030 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03137:Pcdhb4
|
APN |
18 |
37,441,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0031:Pcdhb4
|
UTSW |
18 |
37,441,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Pcdhb4
|
UTSW |
18 |
37,442,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Pcdhb4
|
UTSW |
18 |
37,441,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Pcdhb4
|
UTSW |
18 |
37,440,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0738:Pcdhb4
|
UTSW |
18 |
37,441,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Pcdhb4
|
UTSW |
18 |
37,442,938 (GRCm39) |
nonsense |
probably null |
|
|
R0893:Pcdhb4
|
UTSW |
18 |
37,442,423 (GRCm39) |
splice site |
probably null |
|
|
R1932:Pcdhb4
|
UTSW |
18 |
37,442,594 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1945:Pcdhb4
|
UTSW |
18 |
37,441,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Pcdhb4
|
UTSW |
18 |
37,441,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Pcdhb4
|
UTSW |
18 |
37,441,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Pcdhb4
|
UTSW |
18 |
37,442,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3815:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Pcdhb4
|
UTSW |
18 |
37,441,901 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4558:Pcdhb4
|
UTSW |
18 |
37,443,017 (GRCm39) |
missense |
probably benign |
|
|
R4606:Pcdhb4
|
UTSW |
18 |
37,441,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Pcdhb4
|
UTSW |
18 |
37,441,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4840:Pcdhb4
|
UTSW |
18 |
37,441,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5240:Pcdhb4
|
UTSW |
18 |
37,442,979 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5272:Pcdhb4
|
UTSW |
18 |
37,440,819 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5586:Pcdhb4
|
UTSW |
18 |
37,442,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Pcdhb4
|
UTSW |
18 |
37,442,042 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5917:Pcdhb4
|
UTSW |
18 |
37,442,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Pcdhb4
|
UTSW |
18 |
37,441,482 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6383:Pcdhb4
|
UTSW |
18 |
37,441,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Pcdhb4
|
UTSW |
18 |
37,442,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Pcdhb4
|
UTSW |
18 |
37,441,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7204:Pcdhb4
|
UTSW |
18 |
37,442,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Pcdhb4
|
UTSW |
18 |
37,442,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Pcdhb4
|
UTSW |
18 |
37,442,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Pcdhb4
|
UTSW |
18 |
37,442,602 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7650:Pcdhb4
|
UTSW |
18 |
37,442,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Pcdhb4
|
UTSW |
18 |
37,442,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Pcdhb4
|
UTSW |
18 |
37,442,349 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8087:Pcdhb4
|
UTSW |
18 |
37,441,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Pcdhb4
|
UTSW |
18 |
37,442,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8697:Pcdhb4
|
UTSW |
18 |
37,441,832 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8815:Pcdhb4
|
UTSW |
18 |
37,442,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Pcdhb4
|
UTSW |
18 |
37,440,714 (GRCm39) |
missense |
probably benign |
|
|
R9225:Pcdhb4
|
UTSW |
18 |
37,441,695 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9278:Pcdhb4
|
UTSW |
18 |
37,441,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9299:Pcdhb4
|
UTSW |
18 |
37,442,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9390:Pcdhb4
|
UTSW |
18 |
37,442,781 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9582:Pcdhb4
|
UTSW |
18 |
37,441,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Pcdhb4
|
UTSW |
18 |
37,442,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9721:Pcdhb4
|
UTSW |
18 |
37,442,905 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1177:Pcdhb4
|
UTSW |
18 |
37,442,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGTGCAGTTCTTTCAAAC -3'
(R):5'- GATTGTACAAACTGGGGAGCATTG -3'
Sequencing Primer
(F):5'- TGCTCCTAACAATCCCTG -3'
(R):5'- TACAAACTGGGGAGCATTGTCATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation