Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Tgtp2'

345730

Institutional Source

Beutler Lab

Gene Symbol

Tgtp2

Ensembl Gene

ENSMUSG00000078921

Gene Name

T cell specific GTPase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48948021-48955033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48949811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000045025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046745] [ENSMUST00000056759] [ENSMUST00000102785] [ENSMUST00000179282]

AlphaFold

Q3T9E4
Q62293

Predicted Effect

probably damaging
Transcript: ENSMUST00000046745
AA Change: T254A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045025
Gene: ENSMUSG00000078921
AA Change: T254A

Domain	Start	End	E-Value	Type
Pfam:IIGP	22	395	2.9e-178	PFAM
Pfam:MMR_HSR1	58	217	5.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128411

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clec14a	C	T	12: 58,314,767 (GRCm39)	R285H	probably benign	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e174	C	A	9: 20,012,540 (GRCm39)	H162N	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phactr1	A	T	13: 43,248,441 (GRCm39)	E463D	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

Other mutations in Tgtp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02450:Tgtp2	APN	11	48,950,317 (GRCm39)	missense	probably benign	0.35
Aha2016	UTSW	11	48,950,179 (GRCm39)	missense	probably damaging	1.00
R1498:Tgtp2	UTSW	11	48,950,165 (GRCm39)	missense	probably damaging	1.00
R1779:Tgtp2	UTSW	11	48,949,751 (GRCm39)	missense	probably benign
R1958:Tgtp2	UTSW	11	48,949,919 (GRCm39)	missense	probably damaging	1.00
R2402:Tgtp2	UTSW	11	48,949,957 (GRCm39)	missense	probably benign	0.00
R2962:Tgtp2	UTSW	11	48,950,363 (GRCm39)	missense	probably damaging	1.00
R4124:Tgtp2	UTSW	11	48,950,238 (GRCm39)	missense	probably damaging	0.99
R4484:Tgtp2	UTSW	11	48,950,179 (GRCm39)	missense	probably damaging	1.00
R4772:Tgtp2	UTSW	11	48,949,811 (GRCm39)	missense	probably damaging	1.00
R4965:Tgtp2	UTSW	11	48,950,237 (GRCm39)	missense	probably damaging	1.00
R5263:Tgtp2	UTSW	11	48,950,090 (GRCm39)	missense	probably damaging	1.00
R5426:Tgtp2	UTSW	11	48,950,083 (GRCm39)	missense	probably benign
R7128:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	possibly damaging	0.77
R7147:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	probably damaging	1.00
R7188:Tgtp2	UTSW	11	48,950,135 (GRCm39)	missense	probably damaging	1.00
R8334:Tgtp2	UTSW	11	48,949,721 (GRCm39)	missense	probably benign	0.05
R9306:Tgtp2	UTSW	11	48,949,865 (GRCm39)	missense	probably benign	0.00
R9395:Tgtp2	UTSW	11	48,950,083 (GRCm39)	missense	probably benign
Z1177:Tgtp2	UTSW	11	48,950,178 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AGTGAAGCATCATCCAGCCC -3'
(R):5'- TTGTCAGAACCAAGATAGACAGCG -3'

Sequencing Primer
(F):5'- CCCAAAGTAAGACCTGTAGAGATTG -3'
(R):5'- ACCAAGATAGACAGCGACTTAG -3'

Posted On

2015-09-25