Mutagenetix > Incidental Mutations

Incidental Mutation 'R4062:Sh3pxd2b'

315918

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

G431001E03Rik, Fad49, Tsk4

MMRRC Submission

040971-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R4062 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32347820-32428173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32422263 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 477 (A477S)

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038753]

Predicted Effect

probably benign
Transcript: ENSMUST00000038753
AA Change: A477S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: A477S

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,158,769	L140Q	probably damaging	Het
Adam17	T	C	12: 21,325,457	D787G	probably damaging	Het
Adamtsl4	T	C	3: 95,677,554	K935E	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Bnip3l	T	C	14: 67,008,738	N16S	possibly damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cdc40	A	T	10: 40,849,852		probably null	Het
Clec4b1	C	A	6: 123,068,484	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,519,701	R87S	probably benign	Het
Duoxa2	G	T	2: 122,300,577	S73I	probably damaging	Het
Dytn	A	G	1: 63,647,447	C355R	probably benign	Het
Emilin3	T	C	2: 160,907,796	T631A	probably benign	Het
Ep400	A	T	5: 110,741,981	M472K	probably benign	Het
Erap1	G	T	13: 74,663,536	M338I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fanca	T	C	8: 123,275,172	T1061A	probably benign	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Gcdh	T	C	8: 84,892,453	I152V	probably damaging	Het
Gls	T	C	1: 52,196,748	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,679,513	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,032,772	H526R	probably benign	Het
Il18r1	G	A	1: 40,474,936	V101I	probably benign	Het
Incenp	A	T	19: 9,883,778	M480K	unknown	Het
Isl1	T	A	13: 116,303,090	I241F	probably benign	Het
Kdm6a	A	G	X: 18,250,875	T266A	probably benign	Het
Lcp1	T	C	14: 75,215,180	V442A	probably damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,603,755	L136P	probably damaging	Het
Mrps24	G	A	11: 5,704,676	R93*	probably null	Het
Nkd2	C	T	13: 73,822,690	G258R	probably null	Het
Obscn	T	C	11: 59,082,710	T1932A	probably damaging	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,128,771		probably benign	Het
Ptpn18	A	T	1: 34,472,930	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,026,624	S36P	probably benign	Het
Rims1	G	T	1: 22,533,583	N512K	probably benign	Het
Rinl	T	C	7: 28,790,715	Y60H	probably benign	Het
Scamp2	G	T	9: 57,577,262		probably null	Het
Sept9	T	C	11: 117,352,265	S324P	probably damaging	Het
Soat2	A	G	15: 102,161,091	T396A	possibly damaging	Het
Tenm2	C	T	11: 36,008,655	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,557,897	A97V	possibly damaging	Het
Trdn	A	G	10: 33,257,087	E311G	probably benign	Het
Usp13	T	C	3: 32,881,423	Y333H	probably damaging	Het
Usp18	A	G	6: 121,261,367	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,912,008	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863	V727A	probably damaging	Het

Other mutations in Sh3pxd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03378:Sh3pxd2b	APN	11	32381443	missense	probably damaging	1.00
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
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
R7056:Sh3pxd2b	UTSW	11	32422737	missense	probably benign	0.01
R7131:Sh3pxd2b	UTSW	11	32422072	missense	probably damaging	1.00
R7192:Sh3pxd2b	UTSW	11	32414318	missense	probably damaging	1.00
R7911:Sh3pxd2b	UTSW	11	32371533	missense	probably damaging	1.00
R8026:Sh3pxd2b	UTSW	11	32411567	missense	probably damaging	1.00
R8027:Sh3pxd2b	UTSW	11	32422210	missense	probably benign	0.01
R8555:Sh3pxd2b	UTSW	11	32411469	missense	probably benign	0.34
RF016:Sh3pxd2b	UTSW	11	32423053	small insertion	probably benign
RF022:Sh3pxd2b	UTSW	11	32423054	small insertion	probably benign
RF025:Sh3pxd2b	UTSW	11	32423057	small insertion	probably benign
RF040:Sh3pxd2b	UTSW	11	32423055	small insertion	probably benign
RF056:Sh3pxd2b	UTSW	11	32423055	small insertion	probably benign
RF063:Sh3pxd2b	UTSW	11	32423051	small insertion	probably benign
X0017:Sh3pxd2b	UTSW	11	32414359	missense	possibly damaging	0.94
X0028:Sh3pxd2b	UTSW	11	32423110	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGCGACCTTCATTGACAAG -3'
(R):5'- ATGCTTTGCTGGAATCATTGGC -3'

Sequencing Primer
(F):5'- CAGCGACCTTCATTGACAAGTATAAG -3'
(R):5'- GCTGGAATCATTGGCAATATCATGC -3'

Posted On

2015-05-15