Incidental Mutation 'R5917:Pcdhb4'
| ID |
461434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| MMRRC Submission |
044114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5917 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37442619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 643
(V643D)
|
| 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 |
probably damaging
Transcript: ENSMUST00000056712
AA Change: V643D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V643D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
| Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
| Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
| Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
| Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
| Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
| Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
| Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
| Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
| Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
| Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
| Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
| Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
| P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
| Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
| Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
| Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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'- AGAATGCTTCTGCGCCCTAC -3'
(R):5'- AAAGTGTCCCTCAGGCACAG -3'
Sequencing Primer
(F):5'- TGGCTACCTGGTCACCAAG -3'
(R):5'- TGTCCCTCAGGCACAGAGTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation