Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Qdpr'

344097

Institutional Source

Beutler Lab

Gene Symbol

Qdpr

Ensembl Gene

ENSMUSG00000015806

Gene Name

quinoid dihydropteridine reductase

Synonyms

2610008L04Rik

MMRRC Submission

041807-MU

Accession Numbers

Essential gene?

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

Stock #

R4586 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

45591374-45607571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45596669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 165 (N165I)

Ref Sequence

ENSEMBL: ENSMUSP00000143584 (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: N165I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: N165I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117425
AA Change: N113I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806
AA Change: N113I

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: N113I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
AA Change: N113I

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: N113I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
AA Change: N113I

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

noncoding transcript
Transcript: ENSMUST00000149290

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

possibly damaging
Transcript: ENSMUST00000197946
AA Change: N165I

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: N165I

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: N63I

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806
AA Change: N63I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196216

Meta Mutation Damage Score

0.1138

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	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
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
R9445:Qdpr	UTSW	5	45,596,669 (GRCm39)	missense	probably benign
X0022:Qdpr	UTSW	5	45,596,697 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCTCAAAACAGATGAATGTCTGAG -3'
(R):5'- GTACCATGCTAAAGGACACAGC -3'

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

Posted On

2015-09-24