Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Tpte'

314107

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Pten2

MMRRC Submission

040968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22283441-22371418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22365984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 600 (V600E)

Ref Sequence

ENSEMBL: ENSMUSP00000076435 (fasta)

Gene Model

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

AlphaFold

G5E8H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000077194
AA Change: V600E

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

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: V600E

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 benign
Transcript: ENSMUST00000211747

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,944,992	D473G	probably damaging	Het
9530053A07Rik	T	C	7: 28,152,985	V1311A	possibly damaging	Het
Abca1	T	A	4: 53,044,144	Q1826L	probably damaging	Het
Apob	G	A	12: 8,015,390	V4087I	probably benign	Het
Atp10b	G	A	11: 43,259,536	A1354T	probably benign	Het
Baz1a	A	G	12: 54,929,619	V424A	probably benign	Het
Cdc20b	G	A	13: 113,064,285	D180N	probably benign	Het
Cep57l1	G	T	10: 41,729,360	R130S	probably damaging	Het
Ddb1	A	G	19: 10,627,807	D1053G	probably benign	Het
Ddx39	T	A	8: 83,722,234	M246K	probably benign	Het
Dip2a	G	A	10: 76,278,607	T1013M	probably damaging	Het
Edar	G	T	10: 58,609,947	T265N	possibly damaging	Het
Fam207a	T	C	10: 77,514,330	R75G	possibly damaging	Het
Fam208b	A	G	13: 3,573,507	S2148P	probably benign	Het
Gbp8	T	A	5: 105,031,238	I132F	probably damaging	Het
Gga1	A	G	15: 78,891,491	D382G	probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gm10518	C	A	1: 179,803,813		probably benign	Het
Gm13078	T	C	4: 143,727,122	S267P	probably benign	Het
Gm8074	G	A	9: 78,322,336		noncoding transcript	Het
H2-Eb1	T	A	17: 34,314,368	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,755,773	S95G	probably damaging	Het
Hnf1a	T	A	5: 114,970,574	N91Y	probably damaging	Het
Ints10	C	T	8: 68,827,351	S710F	probably damaging	Het
Kazn	C	T	4: 142,106,904	E614K	unknown	Het
Kif26a	T	A	12: 112,179,916	M1812K	probably benign	Het
Lmo7	A	T	14: 101,902,277	K488*	probably null	Het
Mad1l1	A	G	5: 140,132,816	S457P	probably damaging	Het
Met	A	G	6: 17,533,984	T645A	probably benign	Het
Mpp4	T	C	1: 59,146,744		probably null	Het
Mycl	A	T	4: 122,996,839		probably null	Het
Ncbp1	G	A	4: 46,147,483	R110H	probably damaging	Het
Nfasc	G	T	1: 132,610,305		probably benign	Het
Nup35	A	G	2: 80,655,976	I212V	probably benign	Het
Olfr1181	A	G	2: 88,423,623	M134T	probably damaging	Het
Olfr1373	T	G	11: 52,145,134	Y132S	probably damaging	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcgf5	G	A	19: 36,442,911	S181N	probably damaging	Het
Plk2	C	T	13: 110,399,866	T617I	probably damaging	Het
Polq	A	T	16: 37,092,820		probably null	Het
Ppp1r1a	A	G	15: 103,532,454	L92P	probably damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Prune1	T	C	3: 95,262,231	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,272,643		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall3	G	A	18: 80,971,482	A1005V	probably benign	Het
Samd15	T	G	12: 87,200,632	N30K	probably benign	Het
Scn8a	A	T	15: 101,013,413	K905*	probably null	Het
Scrib	G	A	15: 76,051,473	R1245W	possibly damaging	Het
Skint4	C	T	4: 112,124,614	S260L	probably benign	Het
Slc29a2	A	T	19: 5,029,453	M339L	possibly damaging	Het
Spire1	G	T	18: 67,529,031		probably null	Het
Synpo2	T	C	3: 123,114,278	D463G	possibly damaging	Het
Taf4	C	A	2: 179,932,012	G688C	probably damaging	Het
Ttn	A	G	2: 76,821,166	V10953A	probably benign	Het
Vav2	T	C	2: 27,288,679	Y333C	probably benign	Het
Vav2	A	G	2: 27,291,403	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,436,988	M1R	probably null	Het
Zfp26	G	A	9: 20,442,229	P88L	probably benign	Het
Zfp324	T	C	7: 12,970,867	F328L	probably damaging	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
R1481:Tpte	UTSW	8	22355471	missense	probably damaging	1.00
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
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
R9099:Tpte	UTSW	8	22355481	missense
R9248:Tpte	UTSW	8	22351473	missense	possibly damaging	0.95
R9393:Tpte	UTSW	8	22284974	missense	probably benign
R9682:Tpte	UTSW	8	22351477	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'- TGGGCTGTGACATCAAGAATAC -3'
(R):5'- AATTGTGGCAAAGGAAATCCCAAAC -3'

Sequencing Primer
(F):5'- GCTGGGCATATACTTCTG -3'
(R):5'- GTTGGGTGACACAAACTTGTAATCCC -3'

Posted On

2015-04-30