Mutagenetix > Incidental Mutation

Incidental Mutation 'R0117:Gmpr'

20891

Institutional Source

Beutler Lab

Gene Symbol

Gmpr

Ensembl Gene

ENSMUSG00000000253

Gene Name

guanosine monophosphate reductase

Synonyms

2310004P21Rik

MMRRC Submission

038403-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0117 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

45660905-45699862 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 45670560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000260] [ENSMUST00000128873]

AlphaFold

Q9DCZ1

Predicted Effect

probably null
Transcript: ENSMUST00000000260

SMART Domains

Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253

Domain	Start	End	E-Value	Type
IMPDH	8	344	8.04e-147	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000128873

SMART Domains

Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253

Domain	Start	End	E-Value	Type
IMPDH	15	289	2.59e-77	SMART

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.1%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: A similar gene in human encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. [provided by RefSeq, May 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	A	T	17: 33,999,776 (GRCm39)	I141K	probably damaging	Het
Bbs10	T	A	10: 111,135,194 (GRCm39)	D102E	possibly damaging	Het
Btaf1	A	G	19: 36,947,368 (GRCm39)	T486A	probably benign	Het
Casp8ap2	A	G	4: 32,640,817 (GRCm39)	T624A	probably benign	Het
Cep192	T	C	18: 67,983,808 (GRCm39)		probably null	Het
Cep76	T	C	18: 67,759,744 (GRCm39)	Y323C	possibly damaging	Het
CK137956	T	A	4: 127,840,585 (GRCm39)	T374S	possibly damaging	Het
Cyp2b23	A	T	7: 26,372,539 (GRCm39)	F359I	probably benign	Het
Cyp4f13	G	T	17: 33,149,580 (GRCm39)	H194Q	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eps15	T	A	4: 109,240,016 (GRCm39)	D667E	probably damaging	Het
Fig4	G	A	10: 41,106,037 (GRCm39)	R716*	probably null	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Gsta5	C	T	9: 78,211,700 (GRCm39)	T154I	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc2	C	A	7: 55,863,359 (GRCm39)		probably benign	Het
Htr2a	G	A	14: 74,882,533 (GRCm39)	R173H	probably damaging	Het
Impg2	A	G	16: 56,082,005 (GRCm39)	N979S	probably damaging	Het
Kcna2	A	G	3: 107,012,670 (GRCm39)	Y417C	probably damaging	Het
Lmf1	G	T	17: 25,874,965 (GRCm39)		probably benign	Het
Lmntd2	G	A	7: 140,790,036 (GRCm39)	R659C	possibly damaging	Het
Mcm9	A	G	10: 53,413,832 (GRCm39)	V416A	possibly damaging	Het
Mgarp	G	T	3: 51,304,133 (GRCm39)		probably benign	Het
Mpp3	G	A	11: 101,891,399 (GRCm39)	P580S	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Ninl	G	A	2: 150,779,593 (GRCm39)	R269W	probably damaging	Het
Or7e170	T	C	9: 19,795,595 (GRCm39)	E2G	probably damaging	Het
Or8g19	T	A	9: 39,056,146 (GRCm39)	I250N	probably damaging	Het
Or8h8	T	A	2: 86,753,214 (GRCm39)	I221F	probably damaging	Het
Pcnt	A	T	10: 76,244,561 (GRCm39)	L1173*	probably null	Het
Pde6c	A	G	19: 38,139,979 (GRCm39)	E314G	probably damaging	Het
Peds1	A	G	2: 167,486,678 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,623,003 (GRCm39)	M1V	probably null	Het
Pkdrej	T	A	15: 85,700,300 (GRCm39)		probably null	Het
Plch2	T	A	4: 155,069,815 (GRCm39)		probably benign	Het
Pld2	G	A	11: 70,448,214 (GRCm39)	R887Q	probably benign	Het
Plxnb1	A	G	9: 108,934,286 (GRCm39)	D838G	possibly damaging	Het
Postn	C	T	3: 54,290,902 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,473 (GRCm39)	I172F	probably damaging	Het
Psmc4	A	T	7: 27,742,165 (GRCm39)		probably benign	Het
Rabgap1	T	A	2: 37,451,897 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 78,986,484 (GRCm39)	S1017P	probably benign	Het
Rbak	G	T	5: 143,159,387 (GRCm39)	Y555*	probably null	Het
Serpina1c	T	G	12: 103,861,271 (GRCm39)	*414C	probably null	Het
Sntb1	A	G	15: 55,769,749 (GRCm39)	V80A	probably benign	Het
Sorl1	A	G	9: 41,944,873 (GRCm39)	V884A	probably benign	Het
Stmnd1	C	A	13: 46,438,962 (GRCm39)	Q65K	possibly damaging	Het
Tgm5	C	T	2: 120,905,583 (GRCm39)		probably null	Het
Tubb1	T	C	2: 174,299,577 (GRCm39)	S420P	probably benign	Het
Tvp23b	T	C	11: 62,770,430 (GRCm39)		probably benign	Het
Xirp2	C	T	2: 67,347,464 (GRCm39)	A3235V	possibly damaging	Het
Zc3h15	T	C	2: 83,488,427 (GRCm39)	S122P	possibly damaging	Het

Other mutations in Gmpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03133:Gmpr	APN	13	45,670,494 (GRCm39)	missense	probably benign	0.02
R1698:Gmpr	UTSW	13	45,670,520 (GRCm39)	missense	probably benign	0.40
R1864:Gmpr	UTSW	13	45,696,101 (GRCm39)	missense	probably damaging	1.00
R1865:Gmpr	UTSW	13	45,696,101 (GRCm39)	missense	probably damaging	1.00
R1893:Gmpr	UTSW	13	45,674,423 (GRCm39)	missense	possibly damaging	0.67
R1920:Gmpr	UTSW	13	45,667,997 (GRCm39)	splice site	probably benign
R3928:Gmpr	UTSW	13	45,683,223 (GRCm39)	missense	probably benign	0.00
R4524:Gmpr	UTSW	13	45,683,215 (GRCm39)	missense	probably damaging	1.00
R5687:Gmpr	UTSW	13	45,692,496 (GRCm39)	splice site	probably null
R6320:Gmpr	UTSW	13	45,685,874 (GRCm39)	missense	possibly damaging	0.59
R8715:Gmpr	UTSW	13	45,696,102 (GRCm39)	missense	possibly damaging	0.95
R9371:Gmpr	UTSW	13	45,699,471 (GRCm39)	missense	probably damaging	1.00
R9632:Gmpr	UTSW	13	45,699,519 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCGAGTCATTGCTTCATCGCATAC -3'
(R):5'- TGGGCACAGATATGTACTCCCCAAG -3'

Sequencing Primer
(F):5'- GATTTTGGCTCCCAGGGAC -3'
(R):5'- GATATGTACTCCCCAAGGTGAAGC -3'

Posted On

2013-04-11