Mutagenetix > Incidental Mutations

Incidental Mutation 'R1481:Tpte'

164374

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Pten2

MMRRC Submission

039534-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22283441-22371418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22355471 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 512 (R512S)

Ref Sequence

ENSEMBL: ENSMUSP00000147872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077194
AA Change: R512S

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

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: R512S

Domain	Start	End	E-Value	Type
low complexity region	146	167	N/A	INTRINSIC
transmembrane domain	212	231	N/A	INTRINSIC
transmembrane domain	246	265	N/A	INTRINSIC
transmembrane domain	277	299	N/A	INTRINSIC
low complexity region	307	329	N/A	INTRINSIC
Pfam:Y_phosphatase	369	511	1.4e-6	PFAM
Pfam:DSPc	384	505	7.3e-8	PFAM
PTEN_C2	529	663	3.72e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211497

Predicted Effect

probably damaging
Transcript: ENSMUST00000211747
AA Change: R512S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948		probably benign	Het
Ccdc178	C	T	18: 22,105,621	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866		probably null	Het
Dock6	T	C	9: 21,820,622	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782	*1207W	probably null	Het
Eln	T	C	5: 134,706,572	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227		probably benign	Het
Gpr37	T	C	6: 25,669,138	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138		probably null	Het
Kcnc4	C	T	3: 107,448,218	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499		probably benign	Het
Ncor2	C	A	5: 125,027,138	E963*	probably null	Het
Nol6	T	A	4: 41,123,596	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522		probably benign	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602	F218I	possibly damaging	Het
Trim37	T	A	11: 87,129,759	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790	T259A	probably benign	Het

Other mutations in Tpte

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Tpte	APN	8	22320882	missense	probably benign	0.03
IGL01456:Tpte	APN	8	22345052	splice site	probably benign
IGL01947:Tpte	APN	8	22355473	missense	possibly damaging	0.88
IGL01975:Tpte	APN	8	22349337	missense	probably damaging	1.00
IGL02458:Tpte	APN	8	22305858	missense	probably benign
IGL03411:Tpte	APN	8	22325537	missense	possibly damaging	0.64
R0158:Tpte	UTSW	8	22327739	missense	possibly damaging	0.47
R0396:Tpte	UTSW	8	22335608	splice site	probably benign
R0611:Tpte	UTSW	8	22336533	missense	possibly damaging	0.68
R1489:Tpte	UTSW	8	22349389	critical splice donor site	probably null
R1569:Tpte	UTSW	8	22345031	missense	probably damaging	0.98
R1632:Tpte	UTSW	8	22349347	missense	probably damaging	0.98
R1639:Tpte	UTSW	8	22320897	missense	probably benign	0.00
R2030:Tpte	UTSW	8	22345885	missense	probably damaging	1.00
R2057:Tpte	UTSW	8	22318339	missense	probably benign	0.13
R2519:Tpte	UTSW	8	22333160	splice site	probably benign
R2655:Tpte	UTSW	8	22311278	critical splice acceptor site	probably null
R2884:Tpte	UTSW	8	22335423	nonsense	probably null
R3033:Tpte	UTSW	8	22320872	missense	possibly damaging	0.84
R3734:Tpte	UTSW	8	22359482	missense	probably damaging	1.00
R3961:Tpte	UTSW	8	22359415	missense	probably damaging	0.99
R4050:Tpte	UTSW	8	22365984	missense	probably damaging	1.00
R4591:Tpte	UTSW	8	22327775	missense	probably benign	0.08
R4994:Tpte	UTSW	8	22318346	missense	probably benign	0.23
R5321:Tpte	UTSW	8	22297203	nonsense	probably null
R5394:Tpte	UTSW	8	22327790	missense	probably damaging	1.00
R5588:Tpte	UTSW	8	22284967	missense	possibly damaging	0.95
R5590:Tpte	UTSW	8	22351452	missense	probably damaging	1.00
R5670:Tpte	UTSW	8	22327748	missense	probably damaging	1.00
R6544:Tpte	UTSW	8	22315105	critical splice donor site	probably null
R6596:Tpte	UTSW	8	22333269	missense	probably damaging	0.99
R6729:Tpte	UTSW	8	22355475	missense	probably damaging	1.00
R7120:Tpte	UTSW	8	22327673	missense	probably damaging	1.00
R7526:Tpte	UTSW	8	22325547	critical splice donor site	probably null
R7575:Tpte	UTSW	8	22355482	missense	probably damaging	1.00
RF006:Tpte	UTSW	8	22306943	missense	probably benign
Z1176:Tpte	UTSW	8	22333193	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTAGCTCATTCACCACAGCACC -3'
(R):5'- GTCATCAAGCCCTCACATAGCCTG -3'

Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- TGTGTGACACACCTTAAATAAACAGC -3'

Posted On

2014-03-28