Incidental Mutation 'R7056:Sh3pxd2b'
| ID |
547934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3pxd2b
|
| Ensembl Gene |
ENSMUSG00000040711 |
| Gene Name |
SH3 and PX domains 2B |
| Synonyms |
Tks4, Fad49, G431001E03Rik |
| MMRRC Submission |
045153-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R7056 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32372737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 635
(S635P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
| AlphaFold |
A2AAY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038753
AA Change: S635P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: S635P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
5 |
125 |
2.65e-30 |
SMART |
|
SH3
|
155 |
210 |
1.11e-14 |
SMART |
|
SH3
|
224 |
279 |
3.78e-17 |
SMART |
|
SH3
|
371 |
426 |
2.33e-8 |
SMART |
|
low complexity region
|
525 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
772 |
N/A |
INTRINSIC |
|
SH3
|
850 |
908 |
5.75e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0667 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit abnormal craniofacial morphology, decreased bone density, impaired hearing secondary to otis media, reduced growth, size, and weight, and decreased white adipose tissue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
T |
A |
9: 95,744,916 (GRCm39) |
S78T |
probably damaging |
Het |
| B2m |
T |
C |
2: 121,981,465 (GRCm39) |
L60P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cep350 |
A |
C |
1: 155,724,373 (GRCm39) |
I3075S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,725,935 (GRCm39) |
S651P |
probably damaging |
Het |
| Chrna5 |
C |
T |
9: 54,888,985 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,715,468 (GRCm39) |
V80A |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,906,913 (GRCm39) |
|
probably null |
Het |
| Cop1 |
C |
T |
1: 159,077,647 (GRCm39) |
L161F |
probably damaging |
Het |
| Cyp4f17 |
A |
T |
17: 32,746,846 (GRCm39) |
M383L |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,814,205 (GRCm39) |
D1474G |
possibly damaging |
Het |
| Dgkb |
A |
C |
12: 38,150,492 (GRCm39) |
S100R |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,016,212 (GRCm39) |
V309A |
probably benign |
Het |
| Dner |
C |
A |
1: 84,558,457 (GRCm39) |
R169L |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,682,120 (GRCm39) |
E362G |
probably benign |
Het |
| Eed |
A |
T |
7: 89,619,564 (GRCm39) |
S168T |
possibly damaging |
Het |
| Eif3a |
T |
A |
19: 60,751,500 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,450 (GRCm39) |
S472G |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,798 (GRCm39) |
T1028S |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,265,352 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,096,928 (GRCm39) |
L838Q |
probably benign |
Het |
| Gm13941 |
T |
G |
2: 110,927,147 (GRCm39) |
S137R |
unknown |
Het |
| Gm9938 |
T |
G |
19: 23,701,981 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,501 (GRCm39) |
D560A |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,659,198 (GRCm39) |
L1870* |
probably null |
Het |
| Mep1b |
T |
A |
18: 21,224,247 (GRCm39) |
Y347N |
probably damaging |
Het |
| Mepce |
T |
C |
5: 137,780,968 (GRCm39) |
N613D |
probably damaging |
Het |
| Mgat3 |
T |
G |
15: 80,096,097 (GRCm39) |
L308R |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,625,925 (GRCm39) |
Y175C |
probably damaging |
Het |
| Necab2 |
A |
G |
8: 120,178,878 (GRCm39) |
N98S |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,934,845 (GRCm39) |
M394V |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,738 (GRCm39) |
G993D |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,887,122 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,465,904 (GRCm39) |
H34R |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,044 (GRCm39) |
Y274C |
probably damaging |
Het |
| Or4f60 |
T |
C |
2: 111,902,662 (GRCm39) |
N89D |
probably benign |
Het |
| Pmm2 |
T |
A |
16: 8,460,628 (GRCm39) |
F27L |
probably damaging |
Het |
| Ptpdc1 |
C |
A |
13: 48,740,466 (GRCm39) |
V261F |
possibly damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Radil |
A |
T |
5: 142,480,109 (GRCm39) |
C670* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,167,203 (GRCm39) |
S290N |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,001 (GRCm39) |
|
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,360,957 (GRCm39) |
S501R |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,087,334 (GRCm39) |
I446F |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,745,623 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
C |
A |
5: 36,225,474 (GRCm39) |
D132Y |
probably damaging |
Het |
| Sox18 |
T |
C |
2: 181,313,280 (GRCm39) |
D12G |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,628,004 (GRCm39) |
|
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,660,721 (GRCm39) |
T81N |
probably benign |
Het |
| Tmem256 |
G |
T |
11: 69,729,416 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
T |
C |
2: 25,084,853 (GRCm39) |
H350R |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,953 (GRCm39) |
S24C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r77 |
C |
T |
7: 86,451,023 (GRCm39) |
T303I |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 7,913,877 (GRCm39) |
I591F |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,399,088 (GRCm39) |
I74T |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,784 (GRCm39) |
C1087S |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,067 (GRCm39) |
D10E |
probably damaging |
Het |
| Zfp69 |
A |
G |
4: 120,788,295 (GRCm39) |
V340A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,751,092 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sh3pxd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Sh3pxd2b
|
APN |
11 |
32,353,993 (GRCm39) |
nonsense |
probably null |
|
|
IGL01581:Sh3pxd2b
|
APN |
11 |
32,337,973 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02067:Sh3pxd2b
|
APN |
11 |
32,373,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02412:Sh3pxd2b
|
APN |
11 |
32,337,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02930:Sh3pxd2b
|
APN |
11 |
32,367,161 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03299:Sh3pxd2b
|
APN |
11 |
32,361,448 (GRCm39) |
splice site |
probably benign |
|
|
IGL03378:Sh3pxd2b
|
APN |
11 |
32,331,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Sh3pxd2b
|
UTSW |
11 |
32,373,065 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Sh3pxd2b
|
UTSW |
11 |
32,373,065 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Sh3pxd2b
|
UTSW |
11 |
32,373,064 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Sh3pxd2b
|
UTSW |
11 |
32,373,060 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
R0097:Sh3pxd2b
|
UTSW |
11 |
32,353,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Sh3pxd2b
|
UTSW |
11 |
32,353,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Sh3pxd2b
|
UTSW |
11 |
32,373,023 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0715:Sh3pxd2b
|
UTSW |
11 |
32,373,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1456:Sh3pxd2b
|
UTSW |
11 |
32,365,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Sh3pxd2b
|
UTSW |
11 |
32,331,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1748:Sh3pxd2b
|
UTSW |
11 |
32,372,203 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1902:Sh3pxd2b
|
UTSW |
11 |
32,373,559 (GRCm39) |
makesense |
probably null |
|
|
R1977:Sh3pxd2b
|
UTSW |
11 |
32,372,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3761:Sh3pxd2b
|
UTSW |
11 |
32,372,750 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3850:Sh3pxd2b
|
UTSW |
11 |
32,361,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4062:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4064:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4585:Sh3pxd2b
|
UTSW |
11 |
32,346,479 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5278:Sh3pxd2b
|
UTSW |
11 |
32,331,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Sh3pxd2b
|
UTSW |
11 |
32,372,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Sh3pxd2b
|
UTSW |
11 |
32,372,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Sh3pxd2b
|
UTSW |
11 |
32,357,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Sh3pxd2b
|
UTSW |
11 |
32,372,985 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6392:Sh3pxd2b
|
UTSW |
11 |
32,373,302 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6625:Sh3pxd2b
|
UTSW |
11 |
32,372,594 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6649:Sh3pxd2b
|
UTSW |
11 |
32,365,978 (GRCm39) |
splice site |
probably null |
|
|
R7131:Sh3pxd2b
|
UTSW |
11 |
32,372,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Sh3pxd2b
|
UTSW |
11 |
32,364,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Sh3pxd2b
|
UTSW |
11 |
32,321,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Sh3pxd2b
|
UTSW |
11 |
32,361,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Sh3pxd2b
|
UTSW |
11 |
32,372,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8555:Sh3pxd2b
|
UTSW |
11 |
32,361,469 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8939:Sh3pxd2b
|
UTSW |
11 |
32,364,433 (GRCm39) |
splice site |
probably benign |
|
|
R9003:Sh3pxd2b
|
UTSW |
11 |
32,361,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9090:Sh3pxd2b
|
UTSW |
11 |
32,373,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9271:Sh3pxd2b
|
UTSW |
11 |
32,373,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF016:Sh3pxd2b
|
UTSW |
11 |
32,373,053 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Sh3pxd2b
|
UTSW |
11 |
32,373,054 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Sh3pxd2b
|
UTSW |
11 |
32,373,057 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Sh3pxd2b
|
UTSW |
11 |
32,373,051 (GRCm39) |
small insertion |
probably benign |
|
|
X0017:Sh3pxd2b
|
UTSW |
11 |
32,364,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0028:Sh3pxd2b
|
UTSW |
11 |
32,373,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTGACAAGAGCAAGTTCC -3'
(R):5'- GTGTCTCCTTTGGACTCAGC -3'
Sequencing Primer
(F):5'- TTCCCGCTGAGAAATGACATG -3'
(R):5'- AGACCTGTCCTGGCCATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation