Incidental Mutation 'R0441:Sh3pxd2b'
| ID |
39175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3pxd2b
|
| Ensembl Gene |
ENSMUSG00000040711 |
| Gene Name |
SH3 and PX domains 2B |
| Synonyms |
Tks4, Fad49, G431001E03Rik |
| MMRRC Submission |
038642-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R0441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32373023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 730
(A730D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
| AlphaFold |
A2AAY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038753
AA Change: A730D
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: A730D
| 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 |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,689 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,545,345 (GRCm39) |
R5647* |
probably null |
Het |
| Agbl2 |
C |
T |
2: 90,627,827 (GRCm39) |
R211* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,011,714 (GRCm39) |
K806E |
probably benign |
Het |
| Ampd1 |
C |
G |
3: 102,995,794 (GRCm39) |
L235V |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,060,294 (GRCm39) |
D14G |
possibly damaging |
Het |
| Atp8b4 |
C |
T |
2: 126,220,626 (GRCm39) |
|
probably benign |
Het |
| Bmp8b |
T |
C |
4: 123,018,308 (GRCm39) |
V393A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,322 (GRCm39) |
D1695E |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,587,705 (GRCm39) |
I210V |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,813,924 (GRCm39) |
L564P |
possibly damaging |
Het |
| Cmpk1 |
T |
C |
4: 114,822,220 (GRCm39) |
T110A |
probably benign |
Het |
| Cpsf3 |
T |
G |
12: 21,350,085 (GRCm39) |
I268S |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,414,023 (GRCm39) |
A2621V |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,795,607 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 103,998,292 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Degs2 |
A |
G |
12: 108,668,469 (GRCm39) |
F10S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,717,933 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
G |
C |
15: 78,557,795 (GRCm39) |
P251A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,066,486 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,574,811 (GRCm39) |
D1022G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,856,304 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,151,675 (GRCm39) |
|
probably null |
Het |
| Gm15217 |
T |
C |
14: 46,620,676 (GRCm39) |
|
probably null |
Het |
| Gm17611 |
A |
T |
13: 50,130,435 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 25,146,303 (GRCm39) |
W182* |
probably null |
Het |
| Gsc |
T |
C |
12: 104,439,353 (GRCm39) |
I8V |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,052 (GRCm39) |
K197R |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,720,301 (GRCm39) |
L1551P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,184,985 (GRCm39) |
G39D |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,259,148 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,888,331 (GRCm39) |
V248E |
probably damaging |
Het |
| Mrps15 |
C |
A |
4: 125,945,210 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufa5 |
T |
C |
6: 24,522,750 (GRCm39) |
T31A |
probably benign |
Het |
| Nfyb |
A |
G |
10: 82,586,594 (GRCm39) |
V190A |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,819,409 (GRCm39) |
I40M |
probably benign |
Het |
| Or2f2 |
T |
C |
6: 42,767,108 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,859 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,674 (GRCm39) |
I126K |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,955,301 (GRCm39) |
S564P |
probably damaging |
Het |
| Pak5 |
C |
T |
2: 135,958,549 (GRCm39) |
A180T |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,590,628 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,632,344 (GRCm39) |
N1431I |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,955,319 (GRCm39) |
I429L |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,368,664 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
T |
10: 80,064,859 (GRCm39) |
N30Y |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,563,394 (GRCm39) |
T18S |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,321,590 (GRCm39) |
E2629G |
probably benign |
Het |
| Rec114 |
G |
A |
9: 58,565,053 (GRCm39) |
T201I |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,423,917 (GRCm39) |
E522G |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,893,971 (GRCm39) |
R502H |
possibly damaging |
Het |
| Spag4 |
A |
G |
2: 155,909,899 (GRCm39) |
D187G |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,264,175 (GRCm39) |
T465I |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,132,759 (GRCm39) |
R1159L |
probably benign |
Het |
| Tmem63b |
A |
T |
17: 45,977,241 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
T |
A |
6: 148,317,256 (GRCm39) |
D78V |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,722 (GRCm39) |
N68D |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,770,269 (GRCm39) |
A2641S |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,241,032 (GRCm39) |
K19E |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,564,038 (GRCm39) |
E1274V |
probably null |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,630 (GRCm39) |
I732F |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,758,778 (GRCm39) |
M792K |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,126 (GRCm39) |
I608T |
probably damaging |
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 |
|
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 |
|
|
R7056:Sh3pxd2b
|
UTSW |
11 |
32,372,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGCCTTATTGGATGGAGAAAGCCAC -3'
(R):5'- TTGGCCCACTGAGGAGTTAGAGAG -3'
Sequencing Primer
(F):5'- GAAAGCCACCATGCTGCTG -3'
(R):5'- AGGAGCGACTCTGCTTTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation