Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Sh3pxd2b'

527694

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

G431001E03Rik, Fad49, Tsk4

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32347820-32428173 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 32415978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

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

AlphaFold

A2AAY5

Predicted Effect

probably null
Transcript: ENSMUST00000038753

SMART Domains

Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,812,502	H627Q	probably benign	Het
Abra	G	A	15: 41,869,233	L146F	probably benign	Het
Adamts7	T	C	9: 90,191,937	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,600,783		probably null	Het
Asb15	A	G	6: 24,562,633	N198S	probably benign	Het
Asb16	A	T	11: 102,269,037	Q72L	possibly damaging	Het
Bbox1	G	T	2: 110,305,569	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,470,815	T168A	probably damaging	Het
Bmp1	A	T	14: 70,490,618	W624R	probably damaging	Het
C330027C09Rik	A	T	16: 49,017,466	Q843L	probably damaging	Het
Cdh18	A	T	15: 23,436,534	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,518,531	D848A	probably benign	Het
Cmya5	G	C	13: 93,098,025	S185C	possibly damaging	Het
Cops9	C	T	1: 92,640,414		probably benign	Het
Cutal	C	T	2: 34,885,921	T88I	probably benign	Het
Dlg4	G	T	11: 70,023,953		probably benign	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Erp44	T	C	4: 48,205,130	I288V	probably null	Het
Fam214a	T	G	9: 75,010,150	L677R	probably damaging	Het
Fat3	T	C	9: 16,376,742	D495G	probably damaging	Het
Fsip2	T	C	2: 82,967,817	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,997,476	H453L	possibly damaging	Het
Gm17027	T	C	14: 42,159,279	T207A	unknown	Het
Gm6902	T	G	7: 23,273,734	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,432,435	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,759,365	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,556,076	V11A	probably damaging	Het
Jak2	T	A	19: 29,288,710	I517N	probably benign	Het
Kmt5b	G	A	19: 3,807,295	G351R	probably damaging	Het
Mau2	G	T	8: 70,031,516	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,367,866	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,372,265	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,066,785	I451N	probably damaging	Het
Milr1	C	T	11: 106,757,711	H143Y	probably benign	Het
Mon2	T	G	10: 123,038,480	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,371,322	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,725,184	R60G	possibly damaging	Het
Olfr30	A	T	11: 58,455,568	I127N	probably damaging	Het
Olfr44	A	G	9: 39,484,752	V164A	probably benign	Het
Olfr691	T	C	7: 105,337,707	H3R	probably benign	Het
Papola	A	T	12: 105,812,307	I315L	possibly damaging	Het
Phf3	A	T	1: 30,805,023	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,569,013	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,531,026	L110P	probably damaging	Het
Prss53	T	G	7: 127,886,575	E531A	probably benign	Het
Raf1	A	T	6: 115,631,341	H236Q	probably benign	Het
Ryr2	A	G	13: 11,595,643	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,049,915		probably null	Het
Slco6c1	C	T	1: 97,125,711	S155N	probably benign	Het
Speer4f2	A	G	5: 17,375,769	T115A	probably benign	Het
Spry1	T	C	3: 37,642,722	I38T	probably damaging	Het
Tagap	T	C	17: 7,933,714	V577A	probably benign	Het
Ubr4	C	A	4: 139,473,624	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,601,179	L11Q	probably null	Het
Zfp60	T	C	7: 27,748,726	F273S	probably benign	Het
Zfp938	A	T	10: 82,225,398	Y463N	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
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
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
R8939:Sh3pxd2b	UTSW	11	32414433	splice site	probably benign
R9003:Sh3pxd2b	UTSW	11	32411571	missense	probably damaging	0.96
R9090:Sh3pxd2b	UTSW	11	32423361	missense	possibly damaging	0.90
R9271:Sh3pxd2b	UTSW	11	32423361	missense	possibly damaging	0.90
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'- GACCAGTGCCGATCATCTATTGG -3'
(R):5'- GGATCAGAATAACAAAACGTCACTG -3'

Sequencing Primer
(F):5'- ATAGCCAGGCTGTTCTCACATGTG -3'
(R):5'- GTCACTGCAGATAAACCTGTGTC -3'

Posted On

2018-07-23