Mutagenetix > Incidental Mutation

Incidental Mutation 'R8876:Ntpcr'

690364

Institutional Source

Beutler Lab

Gene Symbol

Ntpcr

Ensembl Gene

ENSMUSG00000031851

Gene Name

nucleoside-triphosphatase, cancer-related

Synonyms

2310079N02Rik

MMRRC Submission

068688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126456724-126474974 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 126464785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000065135] [ENSMUST00000143504] [ENSMUST00000152189]

AlphaFold

Q9CQA9

Predicted Effect

probably benign
Transcript: ENSMUST00000034313

SMART Domains

Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
AAA	1	170	2.61e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065135

SMART Domains

Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	4	107	1.4e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143504

SMART Domains

Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	56	145	5.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152189

SMART Domains

Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	6	178	3.2e-63	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	C	2: 93,668,403 (GRCm39)	L356R	probably damaging	Het
Acvr1	A	T	2: 58,338,422 (GRCm39)	D433E	possibly damaging	Het
Aldh3b1	A	G	19: 3,971,502 (GRCm39)	L122P	probably damaging	Het
Ap3b1	T	G	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Apbb2	A	G	5: 66,609,000 (GRCm39)	S216P	probably benign	Het
Arap3	T	A	18: 38,130,077 (GRCm39)	H28L	possibly damaging	Het
Arhgap44	C	T	11: 64,898,896 (GRCm39)	M760I	possibly damaging	Het
Arhgef19	G	T	4: 140,975,193 (GRCm39)	A304S	probably benign	Het
Atpaf1	T	C	4: 115,645,548 (GRCm39)	I139T	possibly damaging	Het
BC024139	G	T	15: 76,010,320 (GRCm39)	T62K	possibly damaging	Het
Bmal2	G	A	6: 146,723,492 (GRCm39)	G274D	probably benign	Het
Capn5	T	C	7: 97,780,902 (GRCm39)	T292A	probably benign	Het
Card19	T	C	13: 49,358,814 (GRCm39)	N53S	possibly damaging	Het
Cep97	A	G	16: 55,742,467 (GRCm39)	V232A	possibly damaging	Het
Cfap298	A	G	16: 90,724,281 (GRCm39)	I164T	possibly damaging	Het
Clca3a2	G	T	3: 144,777,360 (GRCm39)	T837K	probably benign	Het
Col8a2	G	C	4: 126,204,647 (GRCm39)	G219A	probably damaging	Het
Ctu2	T	C	8: 123,206,951 (GRCm39)	S365P		Het
Dnah2	T	C	11: 69,382,348 (GRCm39)	D1254G	probably damaging	Het
Dscam	A	G	16: 96,420,828 (GRCm39)	L1686S	probably damaging	Het
Fgr	A	G	4: 132,726,071 (GRCm39)		probably benign	Het
Frmd4a	T	A	2: 4,606,111 (GRCm39)	S612T	probably damaging	Het
Gadd45gip1	T	C	8: 85,560,748 (GRCm39)	I121T	probably damaging	Het
Gapvd1	A	G	2: 34,568,560 (GRCm39)	V1353A	possibly damaging	Het
Gdf3	G	A	6: 122,583,942 (GRCm39)	P142S	probably damaging	Het
Gm19965	G	A	1: 116,749,776 (GRCm39)	G486R	unknown	Het
Gpatch2l	T	C	12: 86,308,405 (GRCm39)	L307P	probably damaging	Het
Grm3	T	C	5: 9,561,580 (GRCm39)	K757E	probably damaging	Het
Inppl1	T	A	7: 101,472,750 (GRCm39)	H1218L	possibly damaging	Het
Jag2	T	C	12: 112,873,257 (GRCm39)	I1055V	probably benign	Het
Krtap9-5	G	T	11: 99,840,340 (GRCm39)	C347F	unknown	Het
Magi2	T	A	5: 20,856,190 (GRCm39)	Y1050*	probably null	Het
Myrf	A	G	19: 10,206,378 (GRCm39)		probably benign	Het
Or13a19	T	C	7: 139,902,716 (GRCm39)	Y35H	probably damaging	Het
Or1p1b	C	T	11: 74,130,846 (GRCm39)	T152I	probably damaging	Het
Or2y1c	T	C	11: 49,361,386 (GRCm39)	M136T	probably damaging	Het
Palmd	T	G	3: 116,720,899 (GRCm39)	D145A	probably damaging	Het
Pdcd1	A	G	1: 93,980,155 (GRCm39)	S21P	probably benign	Het
Pkn1	T	C	8: 84,398,879 (GRCm39)	T696A	possibly damaging	Het
Pnpt1	T	A	11: 29,096,769 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 110,049,146 (GRCm39)	I273F	probably damaging	Het
Skic3	T	G	13: 76,323,403 (GRCm39)	D1382E	probably benign	Het
Slc16a4	A	T	3: 107,208,101 (GRCm39)	N204Y	probably benign	Het
Slc38a1	T	C	15: 96,514,091 (GRCm39)	I44V	possibly damaging	Het
Smpdl3a	T	C	10: 57,685,166 (GRCm39)	V312A	probably damaging	Het
Ston1	A	G	17: 88,942,600 (GRCm39)	Y2C	probably benign	Het
Syde1	A	T	10: 78,425,325 (GRCm39)	Y229N	probably damaging	Het
Ttc6	T	A	12: 57,784,489 (GRCm39)	C1853S	possibly damaging	Het
Ttn	A	G	2: 76,609,249 (GRCm39)	I17650T	possibly damaging	Het
Upf1	T	C	8: 70,796,918 (GRCm39)	E105G	possibly damaging	Het
Wrn	A	G	8: 33,814,422 (GRCm39)	W341R	probably benign	Het
Xndc1	C	T	7: 101,729,754 (GRCm39)	P267L	probably benign	Het
Zbtb26	T	C	2: 37,326,896 (GRCm39)	T47A	probably benign	Het
Zc3h10	A	T	10: 128,380,163 (GRCm39)	V398E	probably damaging	Het
Zfp652	G	T	11: 95,639,921 (GRCm39)		probably benign	Het

Other mutations in Ntpcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Ntpcr	APN	8	126,474,501 (GRCm39)	missense	probably damaging	0.98
IGL01582:Ntpcr	APN	8	126,471,981 (GRCm39)	missense	probably benign	0.11
IGL01862:Ntpcr	APN	8	126,462,837 (GRCm39)	missense	probably benign	0.14
IGL02045:Ntpcr	APN	8	126,472,191 (GRCm39)	splice site	probably benign
IGL02077:Ntpcr	APN	8	126,464,107 (GRCm39)	nonsense	probably null
R0491:Ntpcr	UTSW	8	126,464,093 (GRCm39)	nonsense	probably null
R0988:Ntpcr	UTSW	8	126,464,170 (GRCm39)	splice site	probably benign
R1781:Ntpcr	UTSW	8	126,472,141 (GRCm39)	missense	probably damaging	1.00
R2412:Ntpcr	UTSW	8	126,472,144 (GRCm39)	missense	probably damaging	1.00
R3838:Ntpcr	UTSW	8	126,464,111 (GRCm39)	missense	probably damaging	1.00
R4453:Ntpcr	UTSW	8	126,462,929 (GRCm39)	missense	probably benign	0.14
R6126:Ntpcr	UTSW	8	126,462,626 (GRCm39)	critical splice donor site	probably null
R6440:Ntpcr	UTSW	8	126,471,981 (GRCm39)	missense	probably damaging	0.97
R6463:Ntpcr	UTSW	8	126,462,843 (GRCm39)	missense	probably benign	0.02
R7102:Ntpcr	UTSW	8	126,456,794 (GRCm39)	missense	unknown
R7910:Ntpcr	UTSW	8	126,474,483 (GRCm39)	missense	probably benign
R8230:Ntpcr	UTSW	8	126,464,159 (GRCm39)	critical splice donor site	probably null
R8732:Ntpcr	UTSW	8	126,472,074 (GRCm39)	missense	probably benign
X0024:Ntpcr	UTSW	8	126,472,165 (GRCm39)	missense	probably damaging	0.99
X0025:Ntpcr	UTSW	8	126,472,054 (GRCm39)	missense	probably damaging	1.00
Z1177:Ntpcr	UTSW	8	126,472,023 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAATGTGCTGGAATCCCACCC -3'
(R):5'- TGGGTGACTGTAAAGCTATGAACC -3'

Sequencing Primer
(F):5'- GCTGGAATCCCACCCACTGAG -3'
(R):5'- GTCCTTTTCCCATTAGAAACAAGAGG -3'

Posted On

2021-12-22