Incidental Mutation 'IGL03378:Sh3pxd2b'
ID420568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3pxd2b
Ensembl Gene ENSMUSG00000040711
Gene NameSH3 and PX domains 2B
SynonymsG431001E03Rik, Fad49, Tsk4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.596) question?
Stock #IGL03378
Quality Score
Status
Chromosome11
Chromosomal Location32347820-32428173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 32381443 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 56 (L56V)
Ref Sequence ENSEMBL: ENSMUSP00000044276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038753]
Predicted Effect probably damaging
Transcript: ENSMUST00000038753
AA Change: L56V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: L56V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138771
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430069I07Rik T A 15: 34,355,632 I261N probably benign Het
Bace1 T A 9: 45,858,901 probably null Het
Caprin2 G T 6: 148,877,854 Q152K probably benign Het
Cdh16 C T 8: 104,619,285 D285N probably benign Het
Cnnm2 G A 19: 46,878,034 A874T possibly damaging Het
Dhx38 A T 8: 109,559,090 probably null Het
Dnhd1 A C 7: 105,713,733 E3834A possibly damaging Het
Erc2 A C 14: 28,011,723 S585R probably damaging Het
Gli3 A G 13: 15,644,420 E269G probably damaging Het
Gpr161 T C 1: 165,310,508 L204P probably damaging Het
Hp A G 8: 109,575,707 V203A probably damaging Het
Krtap6-5 A T 16: 89,047,789 C19S unknown Het
Lce1i A T 3: 92,777,726 S48T unknown Het
Lrp2 A T 2: 69,431,152 S4482T probably damaging Het
Mpdz A T 4: 81,419,048 probably benign Het
Olfr1049 T A 2: 86,255,019 I225L possibly damaging Het
Olfr1186 T A 2: 88,526,154 Y190* probably null Het
Olfr357 T C 2: 36,996,903 F31S probably damaging Het
Papola G T 12: 105,809,433 probably null Het
Prss23 T C 7: 89,510,144 D239G probably damaging Het
Setd2 A G 9: 110,553,152 T83A unknown Het
Ski A G 4: 155,160,872 S300P probably benign Het
Srebf2 T C 15: 82,169,788 S17P probably damaging Het
Svs5 C A 2: 164,333,340 H37Q probably benign Het
Tbx21 A G 11: 97,114,741 S133P probably benign Het
Tgfbr3 G T 5: 107,109,702 S830R probably damaging Het
Thsd1 A T 8: 22,243,778 K280N probably benign Het
Tnfrsf13c T A 15: 82,224,312 M1L probably benign Het
Ttll7 T C 3: 146,909,653 F291L probably benign Het
Ttn A G 2: 76,769,563 V10762A probably damaging Het
Other mutations in Sh3pxd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Sh3pxd2b APN 11 32403993 nonsense probably null
IGL01581:Sh3pxd2b APN 11 32387973 missense possibly damaging 0.64
IGL02067:Sh3pxd2b APN 11 32423095 missense probably benign 0.01
IGL02412:Sh3pxd2b APN 11 32387992 missense probably damaging 0.99
IGL02930:Sh3pxd2b APN 11 32417161 missense possibly damaging 0.91
IGL03299:Sh3pxd2b APN 11 32411448 splice site probably benign
FR4449:Sh3pxd2b UTSW 11 32423065 small insertion probably benign
FR4548:Sh3pxd2b UTSW 11 32423064 small insertion probably benign
FR4548:Sh3pxd2b UTSW 11 32423065 small insertion probably benign
FR4976:Sh3pxd2b UTSW 11 32423055 small insertion probably benign
FR4976:Sh3pxd2b UTSW 11 32423060 small insertion probably benign
R0097:Sh3pxd2b UTSW 11 32403978 missense probably damaging 1.00
R0097:Sh3pxd2b UTSW 11 32403978 missense probably damaging 1.00
R0441:Sh3pxd2b UTSW 11 32423023 missense possibly damaging 0.77
R0715:Sh3pxd2b UTSW 11 32423341 missense possibly damaging 0.93
R1456:Sh3pxd2b UTSW 11 32415967 missense probably damaging 1.00
R1616:Sh3pxd2b UTSW 11 32381441 missense possibly damaging 0.90
R1748:Sh3pxd2b UTSW 11 32422203 missense possibly damaging 0.92
R1902:Sh3pxd2b UTSW 11 32423559 makesense probably null
R1977:Sh3pxd2b UTSW 11 32422138 missense probably damaging 1.00
R3761:Sh3pxd2b UTSW 11 32422750 missense probably benign 0.45
R3850:Sh3pxd2b UTSW 11 32411505 missense probably damaging 1.00
R4060:Sh3pxd2b UTSW 11 32422263 missense probably benign 0.16
R4062:Sh3pxd2b UTSW 11 32422263 missense probably benign 0.16
R4064:Sh3pxd2b UTSW 11 32422263 missense probably benign 0.16
R4585:Sh3pxd2b UTSW 11 32396479 missense possibly damaging 0.84
R5278:Sh3pxd2b UTSW 11 32381447 missense probably damaging 1.00
R5652:Sh3pxd2b UTSW 11 32422812 missense probably damaging 1.00
R5827:Sh3pxd2b UTSW 11 32422422 missense probably benign 0.01
R5994:Sh3pxd2b UTSW 11 32407570 missense probably damaging 1.00
R6083:Sh3pxd2b UTSW 11 32422985 missense probably benign 0.30
R6392:Sh3pxd2b UTSW 11 32423302 missense possibly damaging 0.74
R6625:Sh3pxd2b UTSW 11 32422594 missense possibly damaging 0.74
R6649:Sh3pxd2b UTSW 11 32415978 splice site probably null
X0017:Sh3pxd2b UTSW 11 32414359 missense possibly damaging 0.94
X0028:Sh3pxd2b UTSW 11 32423110 missense probably damaging 0.99
Posted On2016-08-02