Mutagenetix > Incidental Mutation

Incidental Mutation 'R3084:Dhrs2'

265547

Institutional Source

Beutler Lab

Gene Symbol

Dhrs2

Ensembl Gene

ENSMUSG00000022209

Gene Name

dehydrogenase/reductase member 2

Synonyms

5430405K24Rik, SDR family

MMRRC Submission

040573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55459464-55478892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55477301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 179 (V179L)

Ref Sequence

ENSEMBL: ENSMUSP00000129115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022820] [ENSMUST00000165432]

AlphaFold

Q149L0

Predicted Effect

probably benign
Transcript: ENSMUST00000022820
AA Change: V179L

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

SMART Domains

Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: V179L

Domain	Start	End	E-Value	Type
Pfam:adh_short	38	206	2.2e-31	PFAM
Pfam:KR	39	213	1.4e-11	PFAM
Pfam:adh_short_C2	43	279	2.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165432
AA Change: V179L

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

SMART Domains

Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: V179L

Domain	Start	End	E-Value	Type
Pfam:adh_short	38	233	6.3e-52	PFAM
Pfam:KR	39	213	9.1e-12	PFAM
Pfam:adh_short_C2	43	279	1.8e-36	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,170,733 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,655,122 (GRCm39)	R3223G	probably benign	Het
Arhgef26	T	C	3: 62,285,037 (GRCm39)	V431A	probably benign	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cenpe	A	G	3: 134,946,782 (GRCm39)	E1099G	probably damaging	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,390,145 (GRCm39)	I352V	probably benign	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dlg5	T	C	14: 24,216,258 (GRCm39)	T595A	probably damaging	Het
Fhip1a	T	A	3: 85,573,275 (GRCm39)		probably null	Het
Frk	G	A	10: 34,483,950 (GRCm39)	G437D	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm5699	G	T	1: 31,037,873 (GRCm39)		noncoding transcript	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Ifit3	A	T	19: 34,564,640 (GRCm39)	H62L	probably damaging	Het
Krt34	T	C	11: 99,931,847 (GRCm39)	N124S	probably damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mmd	C	T	11: 90,156,911 (GRCm39)	R129C	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Pomt1	G	T	2: 32,134,252 (GRCm39)	V258L	probably benign	Het
Ppp2r5e	T	C	12: 75,515,390 (GRCm39)	I215V	probably benign	Het
Ranbp10	A	T	8: 106,501,263 (GRCm39)	L329Q	probably damaging	Het
Robo1	T	A	16: 72,801,625 (GRCm39)	L1083Q	probably benign	Het
Rsph4a	G	C	10: 33,785,198 (GRCm39)	V370L	probably damaging	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Svop	T	C	5: 114,180,299 (GRCm39)	T283A	probably benign	Het
Tep1	A	T	14: 51,064,511 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,715,400 (GRCm39)	K132E	probably benign	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Ttf2	C	T	3: 100,855,580 (GRCm39)	G872R	possibly damaging	Het
Vmn1r17	A	G	6: 57,337,768 (GRCm39)	V199A	probably damaging	Het
Vmn1r178	A	G	7: 23,593,331 (GRCm39)	I126M	possibly damaging	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Washc2	A	G	6: 116,204,454 (GRCm39)	N454S	probably benign	Het
Xirp2	T	G	2: 67,339,393 (GRCm39)	F545V	probably damaging	Het
Zfyve26	G	T	12: 79,312,457 (GRCm39)		probably benign	Het

Other mutations in Dhrs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Dhrs2	APN	14	55,472,120 (GRCm39)	missense	probably benign	0.00
IGL02510:Dhrs2	APN	14	55,473,532 (GRCm39)	missense	probably damaging	1.00
IGL02604:Dhrs2	APN	14	55,474,778 (GRCm39)	missense	possibly damaging	0.88
IGL02746:Dhrs2	APN	14	55,478,628 (GRCm39)	missense	probably damaging	1.00
IGL03060:Dhrs2	APN	14	55,474,775 (GRCm39)	missense	probably benign	0.06
R0179:Dhrs2	UTSW	14	55,477,933 (GRCm39)	missense	probably damaging	1.00
R0358:Dhrs2	UTSW	14	55,473,574 (GRCm39)	missense	probably damaging	0.99
R0755:Dhrs2	UTSW	14	55,472,247 (GRCm39)	missense	probably damaging	1.00
R1848:Dhrs2	UTSW	14	55,478,298 (GRCm39)	missense	probably benign
R1977:Dhrs2	UTSW	14	55,472,112 (GRCm39)	start codon destroyed	probably null	0.11
R3086:Dhrs2	UTSW	14	55,477,301 (GRCm39)	missense	probably benign	0.00
R3805:Dhrs2	UTSW	14	55,472,205 (GRCm39)	missense	probably benign	0.03
R3806:Dhrs2	UTSW	14	55,472,205 (GRCm39)	missense	probably benign	0.03
R4361:Dhrs2	UTSW	14	55,478,646 (GRCm39)	missense	probably damaging	0.99
R4754:Dhrs2	UTSW	14	55,476,205 (GRCm39)	missense	probably damaging	0.97
R4989:Dhrs2	UTSW	14	55,474,722 (GRCm39)	missense	probably damaging	1.00
R5307:Dhrs2	UTSW	14	55,473,601 (GRCm39)	missense	possibly damaging	0.71
R7561:Dhrs2	UTSW	14	55,474,698 (GRCm39)	missense	probably benign
R8245:Dhrs2	UTSW	14	55,478,637 (GRCm39)	missense	possibly damaging	0.94
R8296:Dhrs2	UTSW	14	55,477,928 (GRCm39)	missense	probably damaging	1.00
R8324:Dhrs2	UTSW	14	55,476,221 (GRCm39)	missense	probably damaging	1.00
R8782:Dhrs2	UTSW	14	55,473,538 (GRCm39)	missense	possibly damaging	0.94
R8923:Dhrs2	UTSW	14	55,478,309 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGTAAAAGCAGCTTCCTGAC -3'
(R):5'- CTGACCTAGAGCATTCACAATTCCATC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ATCCCGGAGACACGTAGTTTATTTC -3'

Posted On

2015-02-05