Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01747:Dhrs2'

153045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhrs2

Ensembl Gene

ENSMUSG00000022209

Gene Name

dehydrogenase/reductase member 2

Synonyms

5430405K24Rik, SDR family

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01747

Quality Score

Status

Chromosome

Chromosomal Location

55222007-55241435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55234663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 4 (I4L)

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: I4L

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

SMART Domains

Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: I4L

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: I4L

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

SMART Domains

Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: I4L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,556,525		probably null	Het
Abca14	A	G	7: 120,278,087	N986S	probably benign	Het
Adamts17	G	A	7: 67,052,011	G702D	probably damaging	Het
Aox3	G	A	1: 58,159,658	V671M	probably damaging	Het
Asnsd1	A	T	1: 53,348,095	Y124*	probably null	Het
Astn2	A	T	4: 65,794,618	M595K	probably benign	Het
Col2a1	T	C	15: 97,991,392		probably benign	Het
Fbxo4	A	T	15: 3,965,755	L369*	probably null	Het
Gpbp1	G	A	13: 111,453,050	R129C	probably damaging	Het
Lrp1b	T	A	2: 40,860,685	I2956L	probably damaging	Het
Myo16	C	T	8: 10,604,877	T1843I	probably damaging	Het
Olfr1087	T	C	2: 86,690,701	I91M	possibly damaging	Het
Olfr342	T	C	2: 36,527,832	L140P	probably damaging	Het
Pcdhb2	T	G	18: 37,296,303	V86G	probably damaging	Het
Pskh1	T	C	8: 105,913,204	M172T	probably damaging	Het
Slc38a10	T	C	11: 120,134,774		probably benign	Het
Spry2	C	T	14: 105,893,054	D233N	probably damaging	Het
Tmem163	T	A	1: 127,668,720	R84W	probably damaging	Het
Trappc11	T	C	8: 47,519,621	I306V	probably benign	Het
Virma	T	C	4: 11,526,877	L1092P	probably damaging	Het
Vmn2r98	A	G	17: 19,066,440	Y400C	probably damaging	Het

Other mutations in Dhrs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Dhrs2	APN	14	55236075	missense	probably damaging	1.00
IGL02604:Dhrs2	APN	14	55237321	missense	possibly damaging	0.88
IGL02746:Dhrs2	APN	14	55241171	missense	probably damaging	1.00
IGL03060:Dhrs2	APN	14	55237318	missense	probably benign	0.06
R0179:Dhrs2	UTSW	14	55240476	missense	probably damaging	1.00
R0358:Dhrs2	UTSW	14	55236117	missense	probably damaging	0.99
R0755:Dhrs2	UTSW	14	55234790	missense	probably damaging	1.00
R1848:Dhrs2	UTSW	14	55240841	missense	probably benign
R1977:Dhrs2	UTSW	14	55234655	start codon destroyed	probably null	0.11
R3084:Dhrs2	UTSW	14	55239844	missense	probably benign	0.00
R3086:Dhrs2	UTSW	14	55239844	missense	probably benign	0.00
R3805:Dhrs2	UTSW	14	55234748	missense	probably benign	0.03
R3806:Dhrs2	UTSW	14	55234748	missense	probably benign	0.03
R4361:Dhrs2	UTSW	14	55241189	missense	probably damaging	0.99
R4754:Dhrs2	UTSW	14	55238748	missense	probably damaging	0.97
R4989:Dhrs2	UTSW	14	55237265	missense	probably damaging	1.00
R5307:Dhrs2	UTSW	14	55236144	missense	possibly damaging	0.71
R7561:Dhrs2	UTSW	14	55237241	missense	probably benign
R8245:Dhrs2	UTSW	14	55241180	missense	possibly damaging	0.94
R8296:Dhrs2	UTSW	14	55240471	missense	probably damaging	1.00
R8324:Dhrs2	UTSW	14	55238764	missense	probably damaging	1.00
R8782:Dhrs2	UTSW	14	55236081	missense	possibly damaging	0.94
R8923:Dhrs2	UTSW	14	55240852	missense	probably benign	0.00

Posted On

2014-02-04