Mutagenetix > Incidental Mutation

Incidental Mutation 'R2431:Qdpr'

250395

Institutional Source

Beutler Lab

Gene Symbol

Qdpr

Ensembl Gene

ENSMUSG00000015806

Gene Name

quinoid dihydropteridine reductase

Synonyms

2610008L04Rik

MMRRC Submission

040392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R2431 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

45591374-45607571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45602072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 68 (V68A)

Ref Sequence

ENSEMBL: ENSMUSP00000122081 (fasta)

Gene Model

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

AlphaFold

Q8BVI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015950
AA Change: V68A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: V68A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117425
AA Change: V16A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806
AA Change: V16A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118097
AA Change: V16A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
AA Change: V16A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120867
AA Change: V16A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
AA Change: V16A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127562
AA Change: V85A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115453
Gene: ENSMUSG00000015806
AA Change: V85A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149290

Predicted Effect

probably damaging
Transcript: ENSMUST00000154962
AA Change: V68A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806
AA Change: V68A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197946
AA Change: V68A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: V68A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196216

Predicted Effect

probably benign
Transcript: ENSMUST00000198258

SMART Domains

Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,343,230 (GRCm39)	V504A	probably benign	Het
Atr	T	G	9: 95,744,945 (GRCm39)	N87K	probably benign	Het
Auts2	A	T	5: 132,287,887 (GRCm39)	L32*	probably null	Het
Bptf	A	G	11: 106,938,066 (GRCm39)	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,525,881 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,445,841 (GRCm39)	K444E	probably benign	Het
Cnot1	T	C	8: 96,501,280 (GRCm39)	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,265 (GRCm39)	Y425*	probably null	Het
Eri1	A	G	8: 35,943,632 (GRCm39)	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Focad	T	C	4: 88,249,264 (GRCm39)	V837A	unknown	Het
Ica1	G	A	6: 8,658,265 (GRCm39)	T284I	probably benign	Het
Isg15	C	T	4: 156,285,158 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,019,101 (GRCm39)	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Or2a25	T	C	6: 42,888,946 (GRCm39)	L163S	probably damaging	Het
Or2ag19	T	C	7: 106,444,598 (GRCm39)	V260A	possibly damaging	Het
Or5b21	T	C	19: 12,839,970 (GRCm39)	V277A	probably damaging	Het
Or7g12	A	G	9: 18,899,299 (GRCm39)	N5S	probably damaging	Het
Piezo2	T	C	18: 63,378,695 (GRCm39)	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,897,197 (GRCm39)	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,271,389 (GRCm39)	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 16,749,350 (GRCm39)	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,215,347 (GRCm39)	R1438*	probably null	Het
Ptpro	G	A	6: 137,420,583 (GRCm39)	W183*	probably null	Het
Pygm	T	C	19: 6,443,815 (GRCm39)	M592T	probably damaging	Het
Rfc5	A	C	5: 117,523,523 (GRCm39)	S92A	probably damaging	Het
Ripor3	T	C	2: 167,831,715 (GRCm39)	Q362R	probably benign	Het
Ror1	G	A	4: 100,298,352 (GRCm39)	C575Y	probably damaging	Het
Skint9	T	A	4: 112,246,464 (GRCm39)	D216V	probably damaging	Het
Sox6	T	C	7: 115,149,242 (GRCm39)		probably null	Het
Ugp2	A	T	11: 21,279,025 (GRCm39)	V387D	probably damaging	Het
Umodl1	T	C	17: 31,211,062 (GRCm39)	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,732,893 (GRCm39)	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,494,827 (GRCm39)	R72H	probably benign	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
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
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'- ACAGAAAAGCAGCTGGCCTG -3'
(R):5'- CTTCAGGGAGTGCTTATGTCCC -3'

Sequencing Primer
(F):5'- TGCCGCTTCACGTATACCAGAG -3'
(R):5'- CCTGCCCTATAGAATGTTCATGTAG -3'

Posted On

2014-11-12