Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Qdpr'

657563

Institutional Source

Beutler Lab

Gene Symbol

Qdpr

Ensembl Gene

ENSMUSG00000015806

Gene Name

quinoid dihydropteridine reductase

Synonyms

2610008L04Rik

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

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

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45591374-45607571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45596688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 159 (Q159K)

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 benign
Transcript: ENSMUST00000015950
AA Change: Q159K

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

SMART Domains

Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: Q159K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117425
AA Change: Q107K

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

SMART Domains

Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806
AA Change: Q107K

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: Q107K

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

SMART Domains

Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
AA Change: Q107K

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: Q107K

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

SMART Domains

Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
AA Change: Q107K

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
AA Change: Q159K

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806
AA Change: Q159K

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: Q159K

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

SMART Domains

Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: Q159K

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: Q57K

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

SMART Domains

Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806
AA Change: Q57K

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,591,107 (GRCm39)		probably benign	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lpcat1	G	A	13: 73,659,044 (GRCm39)	R320H	probably benign	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Myo18b	C	A	5: 113,019,489 (GRCm39)	E43*	probably null	Het
Neurl1a	T	C	19: 47,241,719 (GRCm39)	C271R	probably damaging	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp652	T	C	11: 95,643,719 (GRCm39)	S306P	probably damaging	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		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
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
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'- TTAAGGGTCTTCAGTGTCACAC -3'
(R):5'- ACTTTTGGAAACCGGCCAG -3'

Sequencing Primer
(F):5'- GTGTCACACACTCAAAGCTCTGATAG -3'
(R):5'- CTGTTACTCTGGCAGGGC -3'

Posted On

2021-01-18