Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Tpte'

173375

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Vsp, Pten2

MMRRC Submission

039675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22773457-22861432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22810913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 190 (R190H)

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: R190H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: R190H

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: R190H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,828 (GRCm39)	T425N	probably benign	Het
Adam18	T	A	8: 25,142,168 (GRCm39)	I203L	probably benign	Het
Amigo2	A	G	15: 97,143,879 (GRCm39)	M181T	probably benign	Het
Anks1	T	A	17: 28,277,280 (GRCm39)	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,565,844 (GRCm39)	V108I	probably damaging	Het
Arl8a	C	T	1: 135,080,561 (GRCm39)	R57*	probably null	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Brpf3	T	C	17: 29,043,042 (GRCm39)		probably null	Het
C2	T	C	17: 35,091,379 (GRCm39)	K95E	probably benign	Het
Cdk19	T	C	10: 40,352,965 (GRCm39)		probably null	Het
Cebpz	T	A	17: 79,242,035 (GRCm39)	I540L	possibly damaging	Het
Cep128	A	G	12: 91,333,142 (GRCm39)	V41A	probably damaging	Het
Cog7	T	C	7: 121,580,642 (GRCm39)	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310 (GRCm39)	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,385,842 (GRCm39)	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,743,956 (GRCm39)	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,345,932 (GRCm39)		noncoding transcript	Het
Ddx24	T	C	12: 103,377,578 (GRCm39)		probably null	Het
Dgki	C	T	6: 36,914,299 (GRCm39)	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,485,051 (GRCm39)	L306H	probably damaging	Het
Ephb2	T	C	4: 136,421,216 (GRCm39)	N378S	probably benign	Het
Espl1	C	T	15: 102,229,149 (GRCm39)	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,191,534 (GRCm39)	A1530S	probably benign	Het
Fndc11	A	G	2: 180,863,374 (GRCm39)	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,176,245 (GRCm39)	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,235,199 (GRCm39)	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,476,697 (GRCm39)		probably null	Het
Itch	A	G	2: 155,020,945 (GRCm39)		probably null	Het
Itga2	T	C	13: 114,993,832 (GRCm39)	T774A	probably benign	Het
Kit	A	G	5: 75,813,467 (GRCm39)	I881V	probably damaging	Het
Lpar5	T	C	6: 125,058,564 (GRCm39)	L95P	probably damaging	Het
Lrp6	T	C	6: 134,430,529 (GRCm39)	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,214,142 (GRCm39)	Y42H	probably damaging	Het
Mpp3	G	T	11: 101,914,268 (GRCm39)	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199 (GRCm39)	E308G	probably damaging	Het
Mug1	T	C	6: 121,857,530 (GRCm39)	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,840,987 (GRCm39)	H956R	probably benign	Het
Ncoa7	A	C	10: 30,577,988 (GRCm39)	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Or4a81	T	C	2: 89,619,589 (GRCm39)	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,404,351 (GRCm39)	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,887,436 (GRCm39)	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,592,615 (GRCm39)	F152I	probably benign	Het
Slit2	A	T	5: 48,416,996 (GRCm39)	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,183,853 (GRCm39)	V465D	probably benign	Het
Ssc5d	T	C	7: 4,931,416 (GRCm39)	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,213,707 (GRCm39)	V312G	probably benign	Het
Stim1	T	A	7: 102,003,748 (GRCm39)	D60E	probably benign	Het
Syt13	T	A	2: 92,776,316 (GRCm39)	V201D	probably benign	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,060,845 (GRCm39)	S366P	possibly damaging	Het
Tex56	T	C	13: 35,128,233 (GRCm39)	I150T	possibly damaging	Het
Vmn1r4	T	C	6: 56,934,060 (GRCm39)	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,654,244 (GRCm39)	D542G	probably damaging	Het
Vps33b	T	A	7: 79,934,101 (GRCm39)	I257N	probably damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zc3h11a	G	T	1: 133,552,446 (GRCm39)	Q554K	probably benign	Het
Zfp947	T	C	17: 22,365,074 (GRCm39)	K200R	probably benign	Het
Zscan12	T	A	13: 21,553,156 (GRCm39)	C327S	probably damaging	Het

Other mutations in Tpte

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Tpte	APN	8	22,810,898 (GRCm39)	missense	probably benign	0.03
IGL01456:Tpte	APN	8	22,835,068 (GRCm39)	splice site	probably benign
IGL01947:Tpte	APN	8	22,845,489 (GRCm39)	missense	possibly damaging	0.88
IGL01975:Tpte	APN	8	22,839,353 (GRCm39)	missense	probably damaging	1.00
IGL02458:Tpte	APN	8	22,795,874 (GRCm39)	missense	probably benign
IGL03411:Tpte	APN	8	22,815,553 (GRCm39)	missense	possibly damaging	0.64
R0158:Tpte	UTSW	8	22,817,755 (GRCm39)	missense	possibly damaging	0.47
R0396:Tpte	UTSW	8	22,825,624 (GRCm39)	splice site	probably benign
R0611:Tpte	UTSW	8	22,826,549 (GRCm39)	missense	possibly damaging	0.68
R1481:Tpte	UTSW	8	22,845,487 (GRCm39)	missense	probably damaging	1.00
R1489:Tpte	UTSW	8	22,839,405 (GRCm39)	critical splice donor site	probably null
R1569:Tpte	UTSW	8	22,835,047 (GRCm39)	missense	probably damaging	0.98
R1632:Tpte	UTSW	8	22,839,363 (GRCm39)	missense	probably damaging	0.98
R2030:Tpte	UTSW	8	22,835,901 (GRCm39)	missense	probably damaging	1.00
R2057:Tpte	UTSW	8	22,808,355 (GRCm39)	missense	probably benign	0.13
R2519:Tpte	UTSW	8	22,823,176 (GRCm39)	splice site	probably benign
R2655:Tpte	UTSW	8	22,801,294 (GRCm39)	critical splice acceptor site	probably null
R2884:Tpte	UTSW	8	22,825,439 (GRCm39)	nonsense	probably null
R3033:Tpte	UTSW	8	22,810,888 (GRCm39)	missense	possibly damaging	0.84
R3734:Tpte	UTSW	8	22,849,498 (GRCm39)	missense	probably damaging	1.00
R3961:Tpte	UTSW	8	22,849,431 (GRCm39)	missense	probably damaging	0.99
R4050:Tpte	UTSW	8	22,856,000 (GRCm39)	missense	probably damaging	1.00
R4591:Tpte	UTSW	8	22,817,791 (GRCm39)	missense	probably benign	0.08
R4994:Tpte	UTSW	8	22,808,362 (GRCm39)	missense	probably benign	0.23
R5321:Tpte	UTSW	8	22,787,219 (GRCm39)	nonsense	probably null
R5394:Tpte	UTSW	8	22,817,806 (GRCm39)	missense	probably damaging	1.00
R5588:Tpte	UTSW	8	22,774,983 (GRCm39)	missense	possibly damaging	0.95
R5590:Tpte	UTSW	8	22,841,468 (GRCm39)	missense	probably damaging	1.00
R5670:Tpte	UTSW	8	22,817,764 (GRCm39)	missense	probably damaging	1.00
R6544:Tpte	UTSW	8	22,805,121 (GRCm39)	critical splice donor site	probably null
R6596:Tpte	UTSW	8	22,823,285 (GRCm39)	missense	probably damaging	0.99
R6729:Tpte	UTSW	8	22,845,491 (GRCm39)	missense	probably damaging	1.00
R7120:Tpte	UTSW	8	22,817,689 (GRCm39)	missense	probably damaging	1.00
R7526:Tpte	UTSW	8	22,815,563 (GRCm39)	critical splice donor site	probably null
R7575:Tpte	UTSW	8	22,845,498 (GRCm39)	missense	probably damaging	1.00
R9099:Tpte	UTSW	8	22,845,497 (GRCm39)	missense
R9248:Tpte	UTSW	8	22,841,489 (GRCm39)	missense	possibly damaging	0.95
R9393:Tpte	UTSW	8	22,774,990 (GRCm39)	missense	probably benign
R9682:Tpte	UTSW	8	22,841,493 (GRCm39)	missense	probably damaging	1.00
RF006:Tpte	UTSW	8	22,796,959 (GRCm39)	missense	probably benign
Z1176:Tpte	UTSW	8	22,823,209 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGACACAGACTAAGAGAGAAGAGAAGC -3'
(R):5'- TTTCCCAAAGACAAGAAAGAGATCCACC -3'

Sequencing Primer
(F):5'- AAGTCTTGGAATTGTCCCCG -3'
(R):5'- aggagtggatgggttggg -3'

Posted On

2014-04-24