Incidental Mutation 'R5240:Pcdhb4'
| ID |
400778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| MMRRC Submission |
042811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37442979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 763
(D763G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056712]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056712
AA Change: D763G
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: D763G
| 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 |
noncoding transcript
Transcript: ENSMUST00000193025
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
C |
3: 59,659,449 (GRCm39) |
T301P |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,365,929 (GRCm39) |
L786R |
probably damaging |
Het |
| Cfap73 |
C |
T |
5: 120,767,772 (GRCm39) |
V260I |
probably damaging |
Het |
| Chchd10 |
A |
T |
10: 75,773,283 (GRCm39) |
N131I |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,197,680 (GRCm39) |
V190A |
probably benign |
Het |
| Clec2l |
C |
T |
6: 38,650,387 (GRCm39) |
T64I |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,151,915 (GRCm39) |
T154S |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,061,960 (GRCm39) |
E643G |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,736,042 (GRCm39) |
M127V |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,990,615 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dgke |
T |
A |
11: 88,941,511 (GRCm39) |
D288V |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,247,639 (GRCm39) |
L1683* |
probably null |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| E130116L18Rik |
G |
T |
5: 25,428,018 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
G |
A |
16: 20,320,148 (GRCm39) |
V115I |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,887,382 (GRCm39) |
T234S |
probably damaging |
Het |
| Gipc2 |
A |
T |
3: 151,808,299 (GRCm39) |
D251E |
possibly damaging |
Het |
| Gm11787 |
A |
C |
4: 3,511,810 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
A |
G |
4: 86,501,415 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Homez |
G |
A |
14: 55,095,531 (GRCm39) |
A59V |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,129,423 (GRCm39) |
V363A |
probably benign |
Het |
| Ifit2 |
T |
A |
19: 34,551,796 (GRCm39) |
D445E |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,317,344 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,640 (GRCm39) |
G216R |
probably damaging |
Het |
| Kdm6b |
A |
C |
11: 69,292,730 (GRCm39) |
|
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,304 (GRCm39) |
S79P |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,776 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
A |
T |
2: 75,506,353 (GRCm39) |
N582K |
possibly damaging |
Het |
| Nsmce4a |
G |
A |
7: 130,138,754 (GRCm39) |
R297C |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,632 (GRCm39) |
L66P |
probably damaging |
Het |
| Or3a1d |
T |
A |
11: 74,238,068 (GRCm39) |
D114V |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,909 (GRCm39) |
D194V |
probably damaging |
Het |
| Osbp |
T |
A |
19: 11,955,654 (GRCm39) |
F357I |
probably damaging |
Het |
| Pcdhgb2 |
A |
C |
18: 37,824,103 (GRCm39) |
I365L |
possibly damaging |
Het |
| Pde6g |
A |
G |
11: 120,338,912 (GRCm39) |
|
probably benign |
Het |
| Pigo |
C |
A |
4: 43,020,675 (GRCm39) |
V756L |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,345,865 (GRCm39) |
T2721K |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,658,675 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,519,397 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,589,711 (GRCm39) |
I471N |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,096,408 (GRCm39) |
T593I |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,963,335 (GRCm39) |
|
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,051 (GRCm39) |
D107E |
probably damaging |
Het |
| Pycr2 |
A |
C |
1: 180,735,188 (GRCm39) |
Q315P |
probably benign |
Het |
| Rbpj |
A |
T |
5: 53,806,782 (GRCm39) |
Y209F |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,544,967 (GRCm39) |
R560L |
probably damaging |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,021 (GRCm39) |
R207G |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,362 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,316,875 (GRCm39) |
|
probably null |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,695,925 (GRCm39) |
L299F |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,567,516 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
T |
14: 30,287,635 (GRCm39) |
G210C |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,771,854 (GRCm39) |
I98T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,419 (GRCm39) |
I466T |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,010 (GRCm39) |
F599L |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,604,122 (GRCm39) |
E151K |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,840,651 (GRCm39) |
D1631A |
probably benign |
Het |
| Vmn2r4 |
A |
C |
3: 64,314,358 (GRCm39) |
S208A |
possibly damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,642 (GRCm39) |
T891A |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,527 (GRCm39) |
|
probably benign |
Het |
| Znhit1 |
T |
A |
5: 137,011,235 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R7271:Pcdhb4
|
UTSW |
18 |
37,441,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- CTGGATCCTACACGGGAAGAAG -3'
(R):5'- ACTAAGACAGCAGGCAGTTG -3'
Sequencing Primer
(F):5'- GGAAGAAGATAATCTCACGCTGTATC -3'
(R):5'- CAGCAGGCAGTTGAAGCATTAATTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation