Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Qprt'

23716

Institutional Source

Beutler Lab

Gene Symbol

Qprt

Ensembl Gene

ENSMUSG00000030674

Gene Name

quinolinate phosphoribosyltransferase

Synonyms

QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase

MMRRC Submission

038445-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

126706942-126721201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126707543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 215 (G215E)

Ref Sequence

ENSEMBL: ENSMUSP00000032912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032912]

AlphaFold

Q91X91

Predicted Effect

probably damaging
Transcript: ENSMUST00000032912
AA Change: G215E

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

SMART Domains

Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: G215E

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:QRPTase_N	27	112	5.5e-24	PFAM
Pfam:QRPTase_C	114	284	1.3e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129332

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		probably benign	Het

Other mutations in Qprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:Qprt	APN	7	126,707,528 (GRCm39)	missense	probably damaging	0.97
IGL02552:Qprt	APN	7	126,708,027 (GRCm39)	missense	probably damaging	1.00
R0082:Qprt	UTSW	7	126,707,358 (GRCm39)	missense	probably damaging	1.00
R0116:Qprt	UTSW	7	126,708,269 (GRCm39)	missense	probably damaging	1.00
R0615:Qprt	UTSW	7	126,708,248 (GRCm39)	missense	probably damaging	0.96
R1703:Qprt	UTSW	7	126,707,343 (GRCm39)	missense	probably benign	0.34
R2402:Qprt	UTSW	7	126,707,532 (GRCm39)	missense	probably benign	0.01
R5147:Qprt	UTSW	7	126,707,622 (GRCm39)	missense	probably damaging	1.00
R5752:Qprt	UTSW	7	126,708,416 (GRCm39)	missense	probably benign	0.00
R6337:Qprt	UTSW	7	126,708,101 (GRCm39)	missense	probably damaging	1.00
R7112:Qprt	UTSW	7	126,707,361 (GRCm39)	missense	probably damaging	1.00
R7136:Qprt	UTSW	7	126,707,984 (GRCm39)	missense	probably damaging	1.00
R8017:Qprt	UTSW	7	126,707,996 (GRCm39)	missense	probably damaging	1.00
R8019:Qprt	UTSW	7	126,707,996 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTCAATGTGTGTCCCACAGAAC -3'
(R):5'- GTGCGATTCAAAGCACAGCTCTC -3'

Sequencing Primer
(F):5'- TCCCACAGAACTGGGTGAG -3'
(R):5'- CAGGCTACTCAACCTTATCCTC -3'

Posted On

2013-04-16