Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Sh3pxd2b'

441500

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

Tks4, Fad49, G431001E03Rik

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

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

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32297820-32378173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32372812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 660 (I660V)

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

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

AlphaFold

A2AAY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000038753
AA Change: I660V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: I660V

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	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
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
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'- TCCCGCTGAGAAATGACATG -3'
(R):5'- TTTGGACTCAGCCCATCCTG -3'

Sequencing Primer
(F):5'- TGTGGCCACAAGGTGCTG -3'
(R):5'- GTCTGCCAGACCTGTCCTG -3'

Posted On

2016-11-08