Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Tpte'

385102

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Pten2

MMRRC Submission

042588-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4994 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22283441-22371418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22318346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 166 (S166P)

Ref Sequence

ENSEMBL: ENSMUSP00000147872 (fasta)

Gene Model

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

AlphaFold

G5E8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000077194
AA Change: S166P

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: S166P

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
AA Change: S166P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	A	9: 94,537,433	R148L	probably benign	Het
1700030K09Rik	A	G	8: 72,455,118	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcb4	A	G	5: 8,928,524	T557A	probably damaging	Het
Acadm	C	T	3: 153,929,584	E298K	probably damaging	Het
Adrb3	T	C	8: 27,227,827		probably null	Het
Aldh1b1	A	G	4: 45,803,128	Y222C	possibly damaging	Het
Ankrd6	A	G	4: 32,860,387	Y19H	probably damaging	Het
Arhgap21	T	A	2: 20,849,890	T1554S	probably benign	Het
BC043934	T	C	9: 96,437,120		noncoding transcript	Het
Birc6	A	G	17: 74,594,324		probably benign	Het
Blm	A	C	7: 80,458,825	F1357C	probably benign	Het
Cd209a	T	C	8: 3,747,713		probably null	Het
Cdk7	G	A	13: 100,717,595	H129Y	probably damaging	Het
Clec14a	G	T	12: 58,268,284	P184Q	probably damaging	Het
Cma1	T	A	14: 55,941,671	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,761,984	T769K	possibly damaging	Het
Col5a1	A	C	2: 28,032,739	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,424,929	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,393,771	L185S	probably damaging	Het
Dennd5b	T	C	6: 149,041,500		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Dzank1	T	G	2: 144,522,566	D37A	probably damaging	Het
Echdc2	A	G	4: 108,165,628	I34V	probably benign	Het
Esm1	A	T	13: 113,213,431	R128S	probably benign	Het
Fbrsl1	A	G	5: 110,447,951	S73P	probably damaging	Het
Fbxo18	T	A	2: 11,764,230	I251F	probably damaging	Het
Fbxo6	A	T	4: 148,149,491	S49R	probably damaging	Het
Gm13089	T	A	4: 143,698,369	Q168L	possibly damaging	Het
Gm17093	A	T	14: 44,519,322	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,458,055		probably null	Het
Hspa4l	C	A	3: 40,745,649		probably benign	Het
Il3ra	G	A	14: 14,351,080	A201T	probably benign	Het
Irx5	T	A	8: 92,360,781	V447E	probably damaging	Het
Kif14	G	T	1: 136,482,959	L668F	probably damaging	Het
Lag3	T	A	6: 124,904,453	R519W	unknown	Het
Lgr4	A	G	2: 110,011,938	N756S	probably damaging	Het
Lingo4	A	G	3: 94,402,541	H262R	probably benign	Het
Lingo4	T	A	3: 94,403,001	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,697,583	G25*	probably null	Het
Marf1	T	C	16: 14,114,231	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,443,851		probably benign	Het
Mtif3	G	A	5: 146,956,788	T203M	probably benign	Het
Mycbp2	A	G	14: 103,169,994	I2740T	probably benign	Het
Nrd1	A	G	4: 109,046,612	T720A	probably benign	Het
Olfr715	T	C	7: 107,129,064	T110A	probably benign	Het
Peak1	T	A	9: 56,241,276	D32V	possibly damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Plekhg3	A	G	12: 76,565,537	R391G	possibly damaging	Het
Ppfia3	T	C	7: 45,341,118	D919G	probably damaging	Het
Rnase2b	T	A	14: 51,162,751	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,579,923		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Serpina3f	A	G	12: 104,220,356	T394A	probably benign	Het
Six3	A	G	17: 85,621,292	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,983,365		probably null	Het
Slc35f6	A	G	5: 30,648,083	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,596,294	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,909,664	E485D	probably damaging	Het
Sort1	G	A	3: 108,328,069	C255Y	probably damaging	Het
Stab2	T	A	10: 86,949,907	T624S	probably benign	Het
Stk33	T	A	7: 109,340,398	I99L	probably benign	Het
Taf4b	T	A	18: 14,898,043	I828N	probably damaging	Het
Terf2	T	C	8: 107,076,478		probably benign	Het
Timd4	C	T	11: 46,815,517	R49C	probably damaging	Het
Tmem57	A	G	4: 134,828,299	Y288H	probably damaging	Het
Trabd2b	T	C	4: 114,406,855	L13P	probably benign	Het
Trappc11	A	T	8: 47,522,441	Y247*	probably null	Het
Trnt1	C	T	6: 106,778,892	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,055	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,381,504	K337N	probably damaging	Het
Unc13a	T	A	8: 71,643,172	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,319,018	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,268,654		probably null	Het
Zfp605	A	G	5: 110,127,486	K157E	probably damaging	Het
Zhx2	T	A	15: 57,821,359	D41E	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
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
R4050:Tpte	UTSW	8	22365984	missense	probably damaging	1.00
R4591:Tpte	UTSW	8	22327775	missense	probably benign	0.08
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'- GGCTATCAAATGTGAACCCTAAAG -3'
(R):5'- CTCGGCAGCCTATTTGATATTTCTAAG -3'

Sequencing Primer
(F):5'- GTGAACCCTAAAGTAAATTCAACTGC -3'
(R):5'- TTTCTAAGGAGCTCCACAAGTCTCAG -3'

Posted On

2016-05-10