Mutagenetix > Incidental Mutation

Incidental Mutation 'R4484:Tgtp2'

331542

Institutional Source

Beutler Lab

Gene Symbol

Tgtp2

Ensembl Gene

ENSMUSG00000078921

Gene Name

T cell specific GTPase 2

Synonyms

MMRRC Submission

041740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48948021-48955033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48950179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 131 (M131K)

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: M131K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045025
Gene: ENSMUSG00000078921
AA Change: M131K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	C	1: 58,301,730 (GRCm39)	C1101R	probably damaging	Het
Atp8b5	T	C	4: 43,357,016 (GRCm39)	I588T	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cd164l2	T	A	4: 132,950,986 (GRCm39)	V147E	probably damaging	Het
Celsr3	G	A	9: 108,723,262 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,836,482 (GRCm39)	T894A	probably damaging	Het
Crtc3	T	C	7: 80,239,696 (GRCm39)	D552G	probably damaging	Het
Cspg4b	A	T	13: 113,455,733 (GRCm39)	N593I	probably damaging	Het
Cyp2c50	A	G	19: 40,079,083 (GRCm39)	E142G	probably damaging	Het
Dcstamp	A	G	15: 39,617,620 (GRCm39)	I10V	probably benign	Het
Gm44501	T	A	17: 40,887,507 (GRCm39)	F8L	unknown	Het
Gpr179	T	C	11: 97,226,537 (GRCm39)	S1873G	probably benign	Het
Gprin2	C	A	14: 33,916,754 (GRCm39)	A339S	probably benign	Het
Gucy1b2	T	A	14: 62,649,038 (GRCm39)	I513F	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,208 (GRCm39)	R91*	probably null	Het
Igtp	G	A	11: 58,097,824 (GRCm39)	V332I	possibly damaging	Het
Itfg1	G	A	8: 86,452,878 (GRCm39)	P497S	probably damaging	Het
Junb	T	C	8: 85,704,517 (GRCm39)	N181S	possibly damaging	Het
Lama3	T	C	18: 12,614,145 (GRCm39)	Y1305H	probably benign	Het
Lrrcc1	A	T	3: 14,616,503 (GRCm39)	N44I	probably damaging	Het
Med15	A	T	16: 17,489,428 (GRCm39)		probably benign	Het
Mkks	T	C	2: 136,722,494 (GRCm39)	E221G	probably benign	Het
Mtmr10	T	C	7: 63,970,379 (GRCm39)	V374A	possibly damaging	Het
Muc5b	G	T	7: 141,422,187 (GRCm39)	C4441F	possibly damaging	Het
Nim1k	G	A	13: 120,173,710 (GRCm39)	Q395*	probably null	Het
Nlrp6	A	G	7: 140,501,694 (GRCm39)	D87G	probably damaging	Het
Ntng1	C	A	3: 110,051,124 (GRCm39)		probably benign	Het
Padi1	G	T	4: 140,544,581 (GRCm39)		probably benign	Het
Rxrg	T	C	1: 167,452,596 (GRCm39)	S133P	probably benign	Het
Snx19	T	C	9: 30,339,192 (GRCm39)	I110T	probably benign	Het
Strap	T	C	6: 137,726,334 (GRCm39)		probably benign	Het
Tasor2	T	C	13: 3,631,831 (GRCm39)	D890G	probably benign	Het
Tppp2	T	C	14: 52,156,868 (GRCm39)	F82L	probably damaging	Het
Ttc39c	A	G	18: 12,863,126 (GRCm39)	K397E	possibly damaging	Het
Txlnb	T	TTA	10: 17,714,745 (GRCm39)		probably null	Het
Usp36	T	A	11: 118,176,621 (GRCm39)	R66W	probably damaging	Het
Vmn1r30	A	T	6: 58,412,118 (GRCm39)	V238E	probably damaging	Het
Vmn1r6	A	G	6: 56,980,174 (GRCm39)	I279V	probably benign	Het
Vmn2r61	G	A	7: 41,950,120 (GRCm39)	D847N	probably benign	Het
Zfp622	G	A	15: 25,987,137 (GRCm39)		probably null	Het
Zfp963	T	C	8: 70,197,135 (GRCm39)	I36V	probably benign	Het
Zfy2	A	G	Y: 2,107,351 (GRCm39)	Y428H	possibly damaging	Het

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
R4602:Tgtp2	UTSW	11	48,949,811 (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'- AGACTCCTGAAGATGATTAGAGCAG -3'
(R):5'- CCACTTTCATCAATACCCTGAGG -3'

Sequencing Primer
(F):5'- CCTGAAGATGATTAGAGCAGTAATCC -3'
(R):5'- GGGGGTGGGGCATGAAG -3'

Posted On

2015-07-21