Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Qprt'

513750

Institutional Source

Beutler Lab

Gene Symbol

Qprt

Ensembl Gene

ENSMUSG00000030674

Gene Name

quinolinate phosphoribosyltransferase

Synonyms

QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase

MMRRC Submission

044491-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R6337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126706942-126721201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126708101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 110 (R110H)

Ref Sequence

ENSEMBL: ENSMUSP00000032912 (fasta)

Gene Model

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

AlphaFold

Q91X91

Predicted Effect

probably damaging
Transcript: ENSMUST00000032912
AA Change: R110H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: R110H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,577,953 (GRCm39)	Y156*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Inpp5k	T	A	11: 75,537,640 (GRCm39)	I350N	probably damaging	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,079,137 (GRCm39)	F10L	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Strada	T	C	11: 106,064,143 (GRCm39)	E58G	possibly damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Wrap53	T	C	11: 69,468,511 (GRCm39)	I179V	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	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
R0173:Qprt	UTSW	7	126,707,543 (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
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'- AATGCCTGTCAGTGGAGGAC -3'
(R):5'- CCAAATCTCCTGGGGTTCTG -3'

Sequencing Primer
(F):5'- AGGCTCAGTGGGGCACTTAC -3'
(R):5'- CTCCTGGGGTTCTGGCAGG -3'

Posted On

2018-04-27