Incidental Mutation 'R0097:Sh3pxd2b'
ID 41163
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2b
Ensembl Gene ENSMUSG00000040711
Gene Name SH3 and PX domains 2B
Synonyms Tks4, Fad49, G431001E03Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R0097 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32297820-32378173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32353978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 182 (I182N)
Ref Sequence ENSEMBL: ENSMUSP00000044276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038753]
AlphaFold A2AAY5
Predicted Effect probably damaging
Transcript: ENSMUST00000038753
AA Change: I182N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: I182N

DomainStartEndE-ValueType
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 0.8511 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Sh3pxd2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCCTGTAACAAAGACTGTTGGGGC -3'
(R):5'- ATCATCTCACCGTGGGTGGATGTG -3'

Sequencing Primer
(F):5'- AAGACTGTTGGGGCTAATGGG -3'
(R):5'- GATAGTCAGTCTCTATGGGACTCC -3'
Posted On 2013-05-23