Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Qdpr'

713871

Institutional Source

Beutler Lab

Gene Symbol

Qdpr

Ensembl Gene

ENSMUSG00000015806

Gene Name

quinoid dihydropteridine reductase

Synonyms

2610008L04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45591374-45607571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45596669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 165 (N165S)

Ref Sequence

ENSEMBL: ENSMUSP00000015950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015950] [ENSMUST00000117425] [ENSMUST00000118097] [ENSMUST00000120867] [ENSMUST00000127562] [ENSMUST00000154962] [ENSMUST00000197946] [ENSMUST00000198258]

AlphaFold

Q8BVI4

Predicted Effect

probably benign
Transcript: ENSMUST00000015950
AA Change: N165S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: N165S

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	195	5.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117425
AA Change: N113S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806
AA Change: N113S

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	189	1e-124	PDB
SCOP:d1hdr__	7	189	4e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118097
AA Change: N113S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
AA Change: N113S

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	189	1e-124	PDB
SCOP:d1hdr__	7	189	4e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120867
AA Change: N113S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
AA Change: N113S

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	189	1e-124	PDB
SCOP:d1hdr__	7	189	4e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127562

SMART Domains

Protein: ENSMUSP00000115453
Gene: ENSMUSG00000015806

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	137	7e-67	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154962

SMART Domains

Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	159	7e-72	PDB
SCOP:d1hdr__	6	159	6e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197946
AA Change: N165S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: N165S

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	213	1e-125	PDB
SCOP:d1hdr__	6	162	2e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198258
AA Change: N63S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806
AA Change: N63S

Domain	Start	End	E-Value	Type
PDB:1DIR\|D	1	139	8e-86	PDB
SCOP:d1hdr__	14	139	6e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
PHENOTYPE: A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,694,576 (GRCm39)	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fkbp4	T	C	6: 128,413,580 (GRCm39)	D68G	probably damaging	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,619,051 (GRCm39)	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Irag1	A	T	7: 110,545,161 (GRCm39)	I45N	possibly damaging	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2n1	A	C	17: 38,486,694 (GRCm39)	T240P	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	probably damaging	Het

Other mutations in Qdpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Qdpr	APN	5	45,592,018 (GRCm39)	missense	possibly damaging	0.93
R0907:Qdpr	UTSW	5	45,596,728 (GRCm39)	missense	probably benign	0.16
R1387:Qdpr	UTSW	5	45,607,480 (GRCm39)	start gained	probably benign
R1964:Qdpr	UTSW	5	45,596,660 (GRCm39)	missense	possibly damaging	0.58
R2431:Qdpr	UTSW	5	45,602,072 (GRCm39)	missense	probably damaging	1.00
R4586:Qdpr	UTSW	5	45,596,669 (GRCm39)	missense	possibly damaging	0.60
R5678:Qdpr	UTSW	5	45,604,979 (GRCm39)	missense	possibly damaging	0.65
R5754:Qdpr	UTSW	5	45,596,727 (GRCm39)	missense	probably damaging	0.98
R7392:Qdpr	UTSW	5	45,596,718 (GRCm39)	missense	probably benign	0.37
R7939:Qdpr	UTSW	5	45,607,407 (GRCm39)	missense	probably damaging	1.00
R8482:Qdpr	UTSW	5	45,596,688 (GRCm39)	missense	probably benign	0.05
R8891:Qdpr	UTSW	5	45,604,982 (GRCm39)	missense	probably damaging	0.99
R8993:Qdpr	UTSW	5	45,607,386 (GRCm39)	missense	probably damaging	1.00
X0022:Qdpr	UTSW	5	45,596,697 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCAAAACAGATGAATGTCTGAG -3'
(R):5'- ACCATGCTAAAGGACACAGCTG -3'

Sequencing Primer
(F):5'- CCAGGTCAGACTCTTAGGTTGAAAC -3'
(R):5'- GCTGTGGCTAGAGTTCTAAGGGAAC -3'

Posted On

2022-06-15