Incidental Mutation 'RF040:Sh3pxd2b'
ID 604777
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2b
Ensembl Gene ENSMUSG00000040711
Gene Name SH3 and PX domains 2B
Synonyms Tks4, Fad49, G431001E03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # RF040 (G1)
Quality Score 194.468
Status Not validated
Chromosome 11
Chromosomal Location 32297820-32378173 bp(+) (GRCm39)
Type of Mutation small insertion (2 aa in frame mutation)
DNA Base Change (assembly) CCTGTG to CCTGTGTCTGTG at 32373055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038753]
AlphaFold A2AAY5
Predicted Effect probably benign
Transcript: ENSMUST00000038753
SMART Domains Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGCTGTG TGCTGTGACAGCTGTG 1: 82,891,298 (GRCm39) probably benign Het
A030005L19Rik G GTGGCTGCTC 1: 82,891,311 (GRCm39) probably benign Het
Brme1 TG TGTCAGGGCAGCAGCAG 8: 84,894,204 (GRCm39) probably benign Het
Cacna1f CTGAATTGGTTCCCAGACCCGTGT CT X: 7,485,210 (GRCm39) probably null Het
Calhm1 C CTGTGGCTGTGGA 19: 47,129,716 (GRCm39) probably benign Het
Cdx1 CTGCTG CTGCTGATGCTG 18: 61,152,942 (GRCm39) probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,462 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,465,750 (GRCm39) probably null Het
Dnajc2 TAGTTG T 5: 21,962,695 (GRCm39) probably null Het
Fgd6 ATT A 10: 93,880,187 (GRCm39) probably null Het
Flywch1 CTCCTGGTGT CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT 17: 23,981,143 (GRCm39) probably null Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Garin5a C CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA 7: 44,149,945 (GRCm39) probably null Het
Garin5a GGGAGGA GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA 7: 44,149,955 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Heatr3 TAT TATTGAT 8: 88,883,085 (GRCm39) probably benign Het
Kmt2e TTT TTTTCTT 5: 23,683,507 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGC 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 AACA AACAACA X: 70,162,420 (GRCm39) probably benign Het
Mast4 CCTCGGGGACAAGCTGTGAGTTGGGGAAC CC 13: 102,875,749 (GRCm39) probably benign Het
Med12l AGC AGCCGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,410 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,064,550 (GRCm39) probably null Het
Ncoa6 TGCAGC TGC 2: 155,263,651 (GRCm39) probably benign Het
Nlrp3 GGGTA G 11: 59,449,378 (GRCm39) probably null Het
Nolc1 AGCAGCAGC AGCAGCAGCCGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,068 (GRCm39) probably benign Het
Or10j2 GTGACATC G 1: 173,098,276 (GRCm39) probably null Het
Or52z15 ACTTGCTGATATCTT ACTT 7: 103,332,145 (GRCm39) probably null Het
Osmr TTCT TTCTTCT 15: 6,867,182 (GRCm39) probably benign Het
Padi3 TCTCAC TC 4: 140,520,283 (GRCm39) probably benign Het
Pdik1l AC ACCACCGC 4: 134,006,826 (GRCm39) probably benign Het
Rpgrip1 AGGAAGAGG AG 14: 52,386,994 (GRCm39) probably null Het
Rragd CATGCCTTTCATTCTA C 4: 32,995,150 (GRCm39) probably benign Het
Ryr3 CTGA C 2: 112,740,869 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 GC GCCCCACC 19: 26,608,422 (GRCm39) probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Sprr2b CAGTATGCTGTGAGCCTTGTCCTCCT C 3: 92,224,871 (GRCm39) probably null Het
Sry GCTG GCTGGTGGTGGTGGTCATGGAACTG Y: 2,662,590 (GRCm39) probably benign Het
Tcof1 CT CTATT 18: 60,961,480 (GRCm39) probably benign Het
Tcof1 GC GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC 18: 60,966,655 (GRCm39) probably benign Het
Tfeb AGC AGCCGC 17: 48,097,036 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,037 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,022 (GRCm39) probably benign Het
Tfeb CAG CAGGAG 17: 48,097,035 (GRCm39) probably benign Het
Tgoln1 T TCACCTCCCGTGGTCTTGCCAGAAG 6: 72,593,057 (GRCm39) probably benign Het
Tmem59 TTTGTTT TTTGTTTGGTTGTTT 4: 107,047,723 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 15: 72,673,141 (GRCm39) probably benign Het
Triobp CAA CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA 15: 78,851,263 (GRCm39) probably benign Het
Xirp2 TT TTTAT 2: 67,355,888 (GRCm39) probably benign Het
Zfhx3 CAGCA CAGCAACAGGAGCA 8: 109,682,733 (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
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
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'- TGGAGAAAGCCACCATGCTG -3'
(R):5'- TCTTGGCCCACTGAGGAGTTAG -3'

Sequencing Primer
(F):5'- TGCTGGGAGCCATGACACAG -3'
(R):5'- CCCACTGAGGAGTTAGAGAGG -3'
Posted On 2019-12-04