Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Sh3pxd2b'

603572

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2b

Ensembl Gene

ENSMUSG00000040711

Gene Name

SH3 and PX domains 2B

Synonyms

Tks4, Fad49, G431001E03Rik

Accession Numbers

Essential gene?

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

Stock #

RF016 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

32297820-32378173 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

TGCCTG to TGCCTGCGCCTG at 32373053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044276 (fasta)

Gene Model

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

AlphaFold

A2AAY5

Predicted Effect

probably benign
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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,891,298 (GRCm39)		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Amer3	A	G	1: 34,626,201 (GRCm39)	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankzf1	G	A	1: 75,172,477 (GRCm39)	R259H	probably damaging	Het
Apol9b	T	C	15: 77,619,714 (GRCm39)	V170A	probably benign	Het
Asb3	A	G	11: 31,011,407 (GRCm39)	I267M	possibly damaging	Het
Baz2a	A	G	10: 127,961,185 (GRCm39)	E1636G	probably benign	Het
Birc6	G	T	17: 74,996,319 (GRCm39)	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Ccdc27	T	C	4: 154,120,567 (GRCm39)	R410G	probably benign	Het
Cdhr5	A	G	7: 140,852,097 (GRCm39)	V435A	possibly damaging	Het
Cercam	T	C	2: 29,759,317 (GRCm39)	S15P	unknown	Het
Cntrl	T	C	2: 35,009,998 (GRCm39)	V224A	probably benign	Het
Comtd1	T	A	14: 21,898,664 (GRCm39)	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)		probably null	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Cyld	T	A	8: 89,432,069 (GRCm39)	Y22*	probably null	Het
Dbt	T	C	3: 116,333,363 (GRCm39)	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,605,222 (GRCm39)	H1070R	probably damaging	Het
Dek	G	T	13: 47,251,662 (GRCm39)	S248*	probably null	Het
Dixdc1	T	C	9: 50,604,941 (GRCm39)	T300A	probably benign	Het
Dusp8	A	T	7: 141,636,589 (GRCm39)	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,096,646 (GRCm39)	N306S	probably benign	Het
Fcer1a	T	C	1: 173,053,086 (GRCm39)	I37V	possibly damaging	Het
Fgfr2	G	T	7: 129,779,410 (GRCm39)	Q639K	probably benign	Het
Ftdc1	T	A	16: 58,437,230 (GRCm39)	N26I	probably damaging	Het
Gab3	CTT	CTTATT	X: 74,043,591 (GRCm39)		probably null	Het
Gins4	T	C	8: 23,722,626 (GRCm39)	M98V	probably benign	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,489,118 (GRCm39)		probably null	Het
Grik1	G	A	16: 87,831,074 (GRCm39)	S232L		Het
Gsg1l	A	G	7: 125,619,794 (GRCm39)		probably null	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,376,360 (GRCm39)	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643 (GRCm39)		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Jag1	T	A	2: 136,938,176 (GRCm39)	T275S	probably benign	Het
Klhdc2	T	A	12: 69,350,660 (GRCm39)	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,019,844 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,339,549 (GRCm39)	M1121L	probably benign	Het
M6pr	C	T	6: 122,292,124 (GRCm39)	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,671,379 (GRCm39)	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,396,925 (GRCm39)	V26I		Het
Mro	CA	CAAACTCGGA	18: 74,003,035 (GRCm39)		probably null	Het
Mrpl3	T	C	9: 104,952,452 (GRCm39)	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,022 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,891,023 (GRCm39)		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,801,431 (GRCm39)		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,458,082 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Or6d12	G	T	6: 116,493,004 (GRCm39)	A89S	probably benign	Het
Ovol1	A	G	19: 5,603,640 (GRCm39)	V87A	probably benign	Het
Pdpk1	T	A	17: 24,312,255 (GRCm39)	E290D	probably benign	Het
Pkd1l3	T	A	8: 110,350,174 (GRCm39)	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,273,869 (GRCm39)	M338V	probably benign	Het
Psg28	G	T	7: 18,156,847 (GRCm39)	L463I	probably damaging	Het
Ptprd	T	C	4: 76,046,892 (GRCm39)	D211G	probably benign	Het
Pus1	T	C	5: 110,924,424 (GRCm39)	H160R	not run	Het
Ranbp17	T	C	11: 33,279,511 (GRCm39)	T582A	probably damaging	Het
Rasa1	G	A	13: 85,371,607 (GRCm39)	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,802,163 (GRCm39)	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,072,744 (GRCm39)	S531P	probably benign	Het
Snrnp200	T	C	2: 127,072,476 (GRCm39)	L1291P	probably damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,769,694 (GRCm39)	R54Q	probably benign	Het
Sulf2	A	T	2: 165,924,523 (GRCm39)	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,273,287 (GRCm39)	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,966,647 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350 (GRCm39)		probably benign	Het
Usp38	A	G	8: 81,740,522 (GRCm39)	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,781,174 (GRCm39)	V460A	probably benign	Het
Wdr97	A	T	15: 76,240,172 (GRCm39)	I331F		Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		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
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
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'- AGAAAGCCACCATGCTGCTG -3'
(R):5'- TTGGCCCACTGAGGAGTTAG -3'

Sequencing Primer
(F):5'- TGCTGGGAGCCATGACACAG -3'
(R):5'- CCCACTGAGGAGTTAGAGAGG -3'

Posted On

2019-12-04