Mutagenetix > Incidental Mutation

Incidental Mutation 'R7192:Sh3pxd2b'

559666

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

Tks4, Fad49, G431001E03Rik

MMRRC Submission

045333-MU

Accession Numbers

Essential gene?

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

Stock #

R7192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32297820-32378173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32364318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 301 (D301E)

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

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

AlphaFold

A2AAY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000038753
AA Change: D301E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: D301E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	G	A	2: 30,686,188 (GRCm39)	T329I	probably damaging	Het
Actl6a	C	A	3: 32,774,373 (GRCm39)	P290H	probably damaging	Het
Akap9	T	A	5: 4,055,723 (GRCm39)		probably null	Het
Anxa2r2	T	A	13: 120,488,241 (GRCm39)	K103*	probably null	Het
Bach1	C	T	16: 87,526,551 (GRCm39)	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,633,210 (GRCm39)	I1099V		Het
Cage1	G	T	13: 38,203,220 (GRCm39)	P615T	probably benign	Het
Caskin2	C	A	11: 115,692,202 (GRCm39)	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,762,881 (GRCm39)	T386A	unknown	Het
Ccndbp1	A	G	2: 120,843,424 (GRCm39)	D272G	probably damaging	Het
Cep192	T	A	18: 67,983,599 (GRCm39)	V1553E	probably damaging	Het
Cfhr4	T	A	1: 139,667,033 (GRCm39)	H414L	probably damaging	Het
Chrm5	C	T	2: 112,310,672 (GRCm39)	G148D	probably damaging	Het
Cntnap4	T	C	8: 113,608,432 (GRCm39)	V1284A	probably benign	Het
Cpd	T	C	11: 76,705,667 (GRCm39)	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,567,633 (GRCm39)	V1266I		Het
Cyfip2	T	C	11: 46,145,493 (GRCm39)	E609G	probably benign	Het
Dbr1	T	C	9: 99,458,755 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,088,920 (GRCm39)	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,455,000 (GRCm39)	A64S	probably benign	Het
Dpp8	A	T	9: 64,953,068 (GRCm39)	N248I	possibly damaging	Het
Dsp	A	T	13: 38,379,569 (GRCm39)	I2105F	probably benign	Het
Edem1	G	A	6: 108,805,965 (GRCm39)	V89M	probably benign	Het
Eml4	A	G	17: 83,761,890 (GRCm39)	Q528R	probably benign	Het
Epb42	A	T	2: 120,854,578 (GRCm39)	V669D	unknown	Het
Fat4	A	T	3: 39,034,613 (GRCm39)	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475 (GRCm39)	K135E	possibly damaging	Het
Gmeb1	A	T	4: 131,955,201 (GRCm39)	F325I	probably benign	Het
H2-M10.3	C	T	17: 36,677,451 (GRCm39)	E276K	probably damaging	Het
H4c17	A	T	13: 21,996,227 (GRCm39)	K92*	probably null	Het
Ifi207	T	C	1: 173,556,584 (GRCm39)	N718S	not run	Het
Il6st	A	G	13: 112,631,741 (GRCm39)	N427D	probably benign	Het
Kat7	T	A	11: 95,166,656 (GRCm39)	M509L	probably benign	Het
Klk1b4	T	C	7: 43,859,045 (GRCm39)	V21A	probably benign	Het
Malt1	T	A	18: 65,570,898 (GRCm39)	L78Q	probably benign	Het
Mertk	A	G	2: 128,635,028 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,796,376 (GRCm39)	L1016P	probably damaging	Het
Neu4	A	G	1: 93,952,863 (GRCm39)	I411V	probably benign	Het
Nutm2	A	T	13: 50,627,105 (GRCm39)	D420V	probably damaging	Het
Or10j3b	T	A	1: 173,043,575 (GRCm39)	M119K	probably damaging	Het
Or2w2	A	G	13: 21,758,539 (GRCm39)	L29P	probably damaging	Het
Or4k1	T	C	14: 50,377,577 (GRCm39)	E173G	possibly damaging	Het
Or5ac24	T	C	16: 59,165,542 (GRCm39)	D174G	probably benign	Het
Pcdha12	C	T	18: 37,153,316 (GRCm39)	R12W	probably benign	Het
Pdgfra	G	T	5: 75,343,767 (GRCm39)	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,634,523 (GRCm39)	V518A	probably benign	Het
Prb1a	G	T	6: 132,184,335 (GRCm39)	P433T	unknown	Het
Ptrh2	A	G	11: 86,580,835 (GRCm39)	T151A	probably damaging	Het
Qars1	T	A	9: 108,388,760 (GRCm39)	N273K	probably damaging	Het
Robo2	T	C	16: 73,717,638 (GRCm39)	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,532,556 (GRCm39)	D482V	probably damaging	Het
Sec16b	T	C	1: 157,357,013 (GRCm39)	S74P	probably benign	Het
Serpinb2	A	T	1: 107,452,306 (GRCm39)	I295F	probably damaging	Het
Sipa1l2	G	A	8: 126,149,348 (GRCm39)	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,695,941 (GRCm39)	N159Y	probably damaging	Het
Stat1	A	C	1: 52,174,780 (GRCm39)	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,319,872 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,522,651 (GRCm39)	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,101,062 (GRCm39)	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,116,739 (GRCm39)	V138I	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tnfrsf1a	T	C	6: 125,338,559 (GRCm39)	S235P	unknown	Het
Tpbg	T	A	9: 85,726,085 (GRCm39)	L18*	probably null	Het
Trabd2b	A	T	4: 114,467,217 (GRCm39)	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,534,895 (GRCm39)	F126Y	probably damaging	Het
Ttn	A	T	2: 76,658,288 (GRCm39)	V12364D	unknown	Het
Ubac2	A	G	14: 122,211,128 (GRCm39)	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519 (GRCm39)	V1320D	probably damaging	Het
Usp34	T	A	11: 23,410,571 (GRCm39)	Y2693N		Het
Utp20	A	T	10: 88,608,321 (GRCm39)	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,001,452 (GRCm39)	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,167,364 (GRCm39)	G589D	probably benign	Het
Vrtn	A	T	12: 84,695,636 (GRCm39)	M129L	probably damaging	Het
Zfp273	A	T	13: 67,973,183 (GRCm39)	T104S	possibly damaging	Het
Zfp384	T	A	6: 125,010,275 (GRCm39)	N390K	probably damaging	Het
Znfx1	A	G	2: 166,884,110 (GRCm39)	M933T	probably benign	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
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
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'- AAGCATGGCTTCATCCCACC -3'
(R):5'- TCTTCAGGATATCATCAGATGGCAG -3'

Sequencing Primer
(F):5'- TTCATCCCACCCCTCCAAC -3'
(R):5'- TATCATCAGATGGCAGGGATGC -3'

Posted On

2019-06-26