Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Sh3pxd2b'

344034

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

Tks4, Fad49, G431001E03Rik

MMRRC Submission

041806-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32297820-32378173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32346479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

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

AlphaFold

A2AAY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038753
AA Change: D116G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: D116G

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

0.0798

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,038,238 (GRCm39)	R58L	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Aurkaip1	C	A	4: 155,917,091 (GRCm39)	A113D	possibly damaging	Het
Bsn	T	C	9: 107,987,662 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,221,953 (GRCm39)	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Ccnt2	T	C	1: 127,730,766 (GRCm39)	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,338 (GRCm39)	Q224R	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Cngb1	C	T	8: 96,023,756 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,723,024 (GRCm39)		probably null	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Crebrf	A	G	17: 26,981,229 (GRCm39)	K535R	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,425,442 (GRCm39)	I72F	probably benign	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,777,999 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,970,541 (GRCm39)	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157 (GRCm39)	Q14*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Glra3	C	A	8: 56,542,028 (GRCm39)	T257K	probably damaging	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm19965	T	A	1: 116,749,508 (GRCm39)	N396K	probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,737,600 (GRCm39)		probably null	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Lctl	T	C	9: 64,038,882 (GRCm39)	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,607,889 (GRCm39)	R43L	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,661,120 (GRCm39)	T467S	probably benign	Het
Mtap	G	A	4: 89,090,511 (GRCm39)	V194I	probably benign	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pabpc6	A	G	17: 9,888,002 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,460,116 (GRCm39)	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,895,413 (GRCm39)	A161E	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,637,303 (GRCm39)	H563L	probably damaging	Het
Plekha2	C	A	8: 25,533,685 (GRCm39)	E291*	probably null	Het
Qser1	C	A	2: 104,617,138 (GRCm39)	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,156,944 (GRCm39)	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,792,596 (GRCm39)	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Serpinb10	T	A	1: 107,474,779 (GRCm39)	C314S	probably benign	Het
Setbp1	A	C	18: 79,130,164 (GRCm39)	S23A	probably benign	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,351,491 (GRCm39)	L155P	probably damaging	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Strn3	T	A	12: 51,696,953 (GRCm39)	E259D	probably benign	Het
Tenm1	G	A	X: 41,626,856 (GRCm39)	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,038,432 (GRCm39)	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,948,789 (GRCm39)	Q492K	probably benign	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Utrn	T	A	10: 12,564,050 (GRCm39)	H1270L	probably benign	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Wdfy4	T	A	14: 32,809,912 (GRCm39)	I1770F	possibly damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het

Other mutations in Sh3pxd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCCTCTCCATACATCTGGGAG -3'
(R):5'- GAGGCAATGAACTCTGACTTAGTTTG -3'

Sequencing Primer
(F):5'- ATAGGCCTGCTAAAGCTTCG -3'
(R):5'- GAACTCTGACTTAGTTTGCAGTC -3'

Posted On

2015-09-24