Incidental Mutation 'R6392:Sh3pxd2b'
ID 515818
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2b
Ensembl Gene ENSMUSG00000040711
Gene Name SH3 and PX domains 2B
Synonyms Tks4, Fad49, G431001E03Rik
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R6392 (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 A at 32373302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 823 (L823Q)
Ref Sequence ENSEMBL: ENSMUSP00000044276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038753]
AlphaFold A2AAY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000038753
AA Change: L823Q

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: L823Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Ctcf T C 8: 106,390,765 (GRCm39) V124A probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxl12 T C 9: 20,550,472 (GRCm39) H84R probably damaging Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Lrp12 C T 15: 39,735,415 (GRCm39) C839Y probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or4a66 A T 2: 88,531,011 (GRCm39) Y221N probably damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Pira2 A T 7: 3,846,901 (GRCm39) S214T possibly damaging Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K 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
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
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'- CTGTCCAAGAAGCAACCCTG -3'
(R):5'- AAGCTAGGGTTTCTTCCGGAG -3'

Sequencing Primer
(F):5'- CTGCAGCAAAGACCTGTGG -3'
(R):5'- CACTGAGGACCTGGCAGAAC -3'
Posted On 2018-05-04