Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Tpte'

163603

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Pten2

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22283441-22371418 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 22349389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076435 (fasta)

Gene Model

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

AlphaFold

G5E8H5

Predicted Effect

probably null
Transcript: ENSMUST00000077194

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	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
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
R9099:Tpte	UTSW	8	22355481	missense
R9248:Tpte	UTSW	8	22351473	missense	possibly damaging	0.95
R9393:Tpte	UTSW	8	22284974	missense	probably benign
RF006:Tpte	UTSW	8	22306943	missense	probably benign
Z1176:Tpte	UTSW	8	22333193	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- attgattgGGAACCCCAGCTTCAG -3'
(R):5'- GGATAGGCAGCTACAAGCCTAACTG -3'

Sequencing Primer
(F):5'- CAGCTTCAGCCTCCCTTG -3'
(R):5'- tgcattcccttaagttttgtgtc -3'

Posted On

2014-03-28