Incidental Mutation 'R5994:Sh3pxd2b'
ID 481017
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2b
Ensembl Gene ENSMUSG00000040711
Gene Name SH3 and PX domains 2B
Synonyms Tks4, Fad49, G431001E03Rik
MMRRC Submission 044173-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R5994 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 32297820-32378173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32357570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 191 (F191L)
Ref Sequence ENSEMBL: ENSMUSP00000044276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038753]
AlphaFold A2AAY5
Predicted Effect probably damaging
Transcript: ENSMUST00000038753
AA Change: F191L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: F191L

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,647,862 (GRCm39) H1118L probably benign Het
Abca8b A G 11: 109,840,592 (GRCm39) probably null Het
Abcb5 A T 12: 118,928,995 (GRCm39) probably null Het
Adcy6 A T 15: 98,491,545 (GRCm39) I1016N probably damaging Het
Afg3l2 A T 18: 67,562,140 (GRCm39) C312S probably damaging Het
Ano8 C T 8: 71,937,478 (GRCm39) V89M probably damaging Het
Arhgap21 C T 2: 20,886,187 (GRCm39) G330D possibly damaging Het
Caskin1 T C 17: 24,715,935 (GRCm39) L195P probably damaging Het
Cfap54 A G 10: 92,874,943 (GRCm39) I514T probably damaging Het
Ctdsp2 G A 10: 126,831,689 (GRCm39) probably benign Het
Cyp4x1 T C 4: 114,979,142 (GRCm39) I152V probably benign Het
Dglucy G A 12: 100,808,959 (GRCm39) R219Q probably benign Het
Disp3 G T 4: 148,338,741 (GRCm39) A810E possibly damaging Het
Dtx4 T C 19: 12,478,517 (GRCm39) Y22C probably damaging Het
Edaradd A T 13: 12,493,377 (GRCm39) I105N probably damaging Het
Eepd1 C T 9: 25,514,749 (GRCm39) P519S probably damaging Het
Fscn3 A T 6: 28,430,294 (GRCm39) S155C probably benign Het
Gm10134 A T 2: 28,396,258 (GRCm39) E51V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga7 T C 8: 23,740,281 (GRCm39) E83G probably benign Het
Gpr12 T C 5: 146,520,241 (GRCm39) H227R probably damaging Het
Hoxa2 T G 6: 52,141,372 (GRCm39) S85R possibly damaging Het
Hrnr T C 3: 93,239,607 (GRCm39) S3282P unknown Het
Ift74 C A 4: 94,579,961 (GRCm39) T543K possibly damaging Het
Klf10 C A 15: 38,296,285 (GRCm39) R420L probably damaging Het
Krt77 T A 15: 101,771,290 (GRCm39) I338F probably damaging Het
Limch1 A T 5: 67,131,965 (GRCm39) S152C probably damaging Het
Mgat4e T A 1: 134,469,234 (GRCm39) H270L probably benign Het
Myrf A T 19: 10,196,481 (GRCm39) L504Q probably null Het
Nckipsd A G 9: 108,691,176 (GRCm39) Q366R probably benign Het
Npy5r A T 8: 67,134,751 (GRCm39) V14D probably benign Het
Nrap T A 19: 56,340,031 (GRCm39) R830* probably null Het
Ogfrl1 A T 1: 23,418,070 (GRCm39) Y103N probably damaging Het
Or10g7 A T 9: 39,905,519 (GRCm39) R138* probably null Het
P2rx4 T A 5: 122,863,142 (GRCm39) L232H probably damaging Het
Pabpc2 A T 18: 39,906,947 (GRCm39) T71S probably benign Het
Paip2b C A 6: 83,785,867 (GRCm39) S121I probably damaging Het
Pofut1 C T 2: 153,103,149 (GRCm39) T261I possibly damaging Het
Ppp6c G T 2: 39,101,004 (GRCm39) T46K possibly damaging Het
Prkd2 C A 7: 16,584,261 (GRCm39) H371Q probably benign Het
Prrc2c A T 1: 162,501,725 (GRCm39) probably null Het
Psd3 C T 8: 68,172,620 (GRCm39) A894T probably damaging Het
Pygm A T 19: 6,448,073 (GRCm39) probably null Het
Pzp A T 6: 128,468,560 (GRCm39) M989K probably damaging Het
Ralgapa2 A T 2: 146,203,373 (GRCm39) S1159T probably benign Het
Rapgefl1 T C 11: 98,740,986 (GRCm39) F575L probably benign Het
Rassf6 A G 5: 90,765,627 (GRCm39) L28S probably damaging Het
Rbp3 G T 14: 33,676,857 (GRCm39) K268N probably damaging Het
Rela C T 19: 5,697,092 (GRCm39) T433M possibly damaging Het
Rnf103 T A 6: 71,473,894 (GRCm39) S102R probably damaging Het
Scarf2 A G 16: 17,624,243 (GRCm39) N516S probably damaging Het
Sdcbp2 T C 2: 151,429,403 (GRCm39) I241T probably damaging Het
Septin7 T C 9: 25,199,494 (GRCm39) I131T possibly damaging Het
Siglec15 C A 18: 78,090,590 (GRCm39) C236F probably damaging Het
Slc11a2 T C 15: 100,295,562 (GRCm39) T520A probably benign Het
Slc26a11 C A 11: 119,270,738 (GRCm39) F553L probably benign Het
Smchd1 G A 17: 71,672,404 (GRCm39) P1596S possibly damaging Het
Taar7b A G 10: 23,876,246 (GRCm39) H137R probably damaging Het
Thap12 T A 7: 98,365,237 (GRCm39) C468* probably null Het
Timp4 C T 6: 115,224,315 (GRCm39) G118D probably damaging Het
Tnnt3 A G 7: 142,065,003 (GRCm39) K48E probably damaging Het
Trmt10a T A 3: 137,862,475 (GRCm39) I255N probably damaging Het
Ttll10 T C 4: 156,133,189 (GRCm39) probably null Het
Tut7 T G 13: 59,937,023 (GRCm39) Y806S probably damaging Het
Ube4b A G 4: 149,457,389 (GRCm39) Y283H probably damaging Het
Ucp1 G T 8: 84,020,567 (GRCm39) V126L possibly damaging Het
Unc13b T A 4: 43,172,596 (GRCm39) probably benign Het
Vps13b T C 15: 35,875,918 (GRCm39) S2768P probably damaging Het
Zfp101 T A 17: 33,599,936 (GRCm39) M607L probably benign Het
Zfp292 C T 4: 34,805,464 (GRCm39) V2527M possibly damaging Het
Zfp503 T A 14: 22,035,630 (GRCm39) T429S possibly damaging 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
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'- AGTGTAAAGTCTACCTAGGTGTG -3'
(R):5'- AAGTACAGGCTTGCCTTATAGTTC -3'

Sequencing Primer
(F):5'- AAGTCTACCTAGGTGTGTCCTATAC -3'
(R):5'- TGCTCACAGGCTCTAAATCC -3'
Posted On 2017-06-26