Mutagenetix > Incidental Mutation

Incidental Mutation 'R2402:Qprt'

248746

Institutional Source

Beutler Lab

Gene Symbol

Qprt

Ensembl Gene

ENSMUSG00000030674

Gene Name

quinolinate phosphoribosyltransferase

Synonyms

QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase

MMRRC Submission

040368-MU

Accession Numbers

Essential gene?

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

Stock #

R2402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126706942-126721201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126707532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 219 (V219I)

Ref Sequence

ENSEMBL: ENSMUSP00000032912 (fasta)

Gene Model

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

AlphaFold

Q91X91

Predicted Effect

probably benign
Transcript: ENSMUST00000032912
AA Change: V219I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: V219I

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: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,235,770 (GRCm39)	D1199V	probably damaging	Het
Abcc6	A	T	7: 45,664,999 (GRCm39)	S277R	probably benign	Het
Acvrl1	A	G	15: 101,035,280 (GRCm39)	S269G	probably damaging	Het
Akap10	T	C	11: 61,806,048 (GRCm39)	S227G	probably benign	Het
Angptl8	T	C	9: 21,747,112 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,539 (GRCm39)	S141P	possibly damaging	Het
Atic	T	A	1: 71,608,216 (GRCm39)	Y303*	probably null	Het
Bbs9	C	T	9: 22,557,359 (GRCm39)	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,081,795 (GRCm39)	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,549 (GRCm39)	M75K	probably damaging	Het
Carm1	T	A	9: 21,494,836 (GRCm39)	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,722,782 (GRCm39)	L550Q	probably damaging	Het
Cd302	A	G	2: 60,087,412 (GRCm39)	I142T	probably benign	Het
Cep350	A	T	1: 155,738,882 (GRCm39)	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,632,461 (GRCm39)	S297P	probably damaging	Het
Cr1l	T	A	1: 194,789,210 (GRCm39)	Y398F	probably benign	Het
Ctsa	A	T	2: 164,676,813 (GRCm39)	D145V	probably benign	Het
Ctsj	C	T	13: 61,148,388 (GRCm39)	G303D	probably damaging	Het
Dnah17	T	C	11: 118,016,800 (GRCm39)	I250M	probably benign	Het
Doc2a	C	A	7: 126,447,919 (GRCm39)	C54*	probably null	Het
Dpy19l2	T	C	9: 24,492,544 (GRCm39)	T685A	probably damaging	Het
Dtna	T	A	18: 23,728,535 (GRCm39)	C243*	probably null	Het
Exoc3l4	A	G	12: 111,388,690 (GRCm39)	T60A	possibly damaging	Het
Exph5	C	A	9: 53,286,225 (GRCm39)	S1102*	probably null	Het
Fhl3	T	C	4: 124,599,481 (GRCm39)	Y19H	probably damaging	Het
Flt4	A	G	11: 49,528,646 (GRCm39)	E1012G	possibly damaging	Het
Flvcr2	A	G	12: 85,829,777 (GRCm39)	N262S	probably benign	Het
Gon4l	G	T	3: 88,766,350 (GRCm39)	C463F	probably damaging	Het
H2-T10	A	T	17: 36,428,631 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,200 (GRCm39)	C185R	probably benign	Het
Hectd1	A	G	12: 51,792,317 (GRCm39)	V2474A	probably benign	Het
Htr3a	C	T	9: 48,812,795 (GRCm39)	E215K	probably damaging	Het
Ica1l	T	C	1: 60,045,451 (GRCm39)	T271A	probably benign	Het
Klra2	A	G	6: 131,220,864 (GRCm39)	I66T	probably benign	Het
Neto2	T	C	8: 86,417,541 (GRCm39)	K21R	probably benign	Het
Niban1	A	G	1: 151,565,365 (GRCm39)	T232A	probably benign	Het
Nisch	T	A	14: 30,906,971 (GRCm39)		probably benign	Het
Nr4a1	G	T	15: 101,169,618 (GRCm39)	R296L	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or7g19	T	A	9: 18,856,496 (GRCm39)	I184N	probably damaging	Het
Or8b50	T	C	9: 38,518,397 (GRCm39)	V212A	probably benign	Het
Pcsk5	A	T	19: 17,452,198 (GRCm39)	C1102*	probably null	Het
Phip	C	T	9: 82,757,358 (GRCm39)	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,942,564 (GRCm39)	M105K	possibly damaging	Het
Ralgapa2	A	T	2: 146,195,112 (GRCm39)	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,444,475 (GRCm39)	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,106,254 (GRCm39)	G273D	probably benign	Het
Rimbp2	T	C	5: 128,861,952 (GRCm39)	D771G	probably damaging	Het
Sos2	T	C	12: 69,643,573 (GRCm39)	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,763,792 (GRCm39)	N397K	probably damaging	Het
Tgtp2	T	C	11: 48,949,957 (GRCm39)	Q205R	probably benign	Het
Tle5	T	A	10: 81,400,712 (GRCm39)	C89S	possibly damaging	Het
Tubb2b	T	C	13: 34,312,209 (GRCm39)	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843 (GRCm39)	T84A	probably benign	Het
Usb1	T	A	8: 96,069,759 (GRCm39)	F102L	probably benign	Het
Vmn2r61	A	G	7: 41,949,529 (GRCm39)	T650A	possibly damaging	Het
Zbtb41	A	C	1: 139,350,923 (GRCm39)	D12A	probably benign	Het
Zbtb41	G	T	1: 139,350,925 (GRCm39)	E13*	probably null	Het
Zfp821	C	T	8: 110,447,872 (GRCm39)	S71F	probably damaging	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
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'- CAGAACTGGGTGAGGTTGTC -3'
(R):5'- TCAAAGCACAGCTCTCTGG -3'

Sequencing Primer
(F):5'- TTGTCCAGTGTGACGCC -3'
(R):5'- ACAGCTCTCTGGGCCCC -3'

Posted On

2014-11-11