Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Dhrs7'

246958

Institutional Source

Beutler Lab

Gene Symbol

Dhrs7

Ensembl Gene

ENSMUSG00000021094

Gene Name

dehydrogenase/reductase 7

Synonyms

2310016E22Rik, 5730564L20Rik, dehydrogenase/reductase (SDR family) member 7, retDSR4, retSDR4

MMRRC Submission

040338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72697127-72711678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72699155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 276 (S276A)

Ref Sequence

ENSEMBL: ENSMUSP00000021512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021512] [ENSMUST00000208307] [ENSMUST00000220821]

AlphaFold

Q9CXR1

Predicted Effect

probably benign
Transcript: ENSMUST00000021512
AA Change: S276A

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

SMART Domains

Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: S276A

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:KR	51	227	2.5e-11	PFAM
Pfam:adh_short	51	250	4.4e-52	PFAM
Pfam:adh_short_C2	57	267	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208307

Predicted Effect

probably benign
Transcript: ENSMUST00000220821

Predicted Effect

unknown
Transcript: ENSMUST00000221750
AA Change: S299A

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cdk10	T	C	8: 123,955,908 (GRCm39)	V199A	probably damaging	Het
Ces2h	G	A	8: 105,742,570 (GRCm39)	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Or6c38	T	C	10: 128,929,761 (GRCm39)	I27M	probably benign	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Prx	C	T	7: 27,207,284 (GRCm39)		probably benign	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het
Zfp809	C	A	9: 22,154,336 (GRCm39)	T351K	probably benign	Het

Other mutations in Dhrs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Dhrs7	APN	12	72,706,124 (GRCm39)	missense	probably damaging	1.00
IGL00715:Dhrs7	APN	12	72,699,164 (GRCm39)	missense	probably damaging	1.00
IGL02398:Dhrs7	APN	12	72,711,466 (GRCm39)	missense	probably damaging	1.00
R0421:Dhrs7	UTSW	12	72,699,860 (GRCm39)	splice site	probably benign
R0691:Dhrs7	UTSW	12	72,699,125 (GRCm39)	missense	probably damaging	1.00
R1640:Dhrs7	UTSW	12	72,699,089 (GRCm39)	missense	possibly damaging	0.86
R1696:Dhrs7	UTSW	12	72,699,894 (GRCm39)	missense	possibly damaging	0.88
R1727:Dhrs7	UTSW	12	72,706,238 (GRCm39)	missense	probably damaging	1.00
R1791:Dhrs7	UTSW	12	72,699,939 (GRCm39)	missense	probably benign	0.13
R2046:Dhrs7	UTSW	12	72,699,040 (GRCm39)	missense	possibly damaging	0.47
R2124:Dhrs7	UTSW	12	72,699,951 (GRCm39)	missense	probably damaging	1.00
R2205:Dhrs7	UTSW	12	72,703,144 (GRCm39)	missense	probably damaging	1.00
R3431:Dhrs7	UTSW	12	72,711,501 (GRCm39)	missense	probably damaging	0.99
R4492:Dhrs7	UTSW	12	72,699,899 (GRCm39)	missense	probably damaging	1.00
R4744:Dhrs7	UTSW	12	72,699,025 (GRCm39)	missense	possibly damaging	0.94
R4747:Dhrs7	UTSW	12	72,699,892 (GRCm39)	missense	probably benign	0.03
R5050:Dhrs7	UTSW	12	72,704,184 (GRCm39)	missense	probably damaging	1.00
R5076:Dhrs7	UTSW	12	72,706,255 (GRCm39)	missense	probably benign	0.00
R5678:Dhrs7	UTSW	12	72,704,106 (GRCm39)	missense	probably damaging	1.00
R6361:Dhrs7	UTSW	12	72,711,433 (GRCm39)	missense	probably damaging	0.98
R7895:Dhrs7	UTSW	12	72,699,234 (GRCm39)	splice site	probably null
R8432:Dhrs7	UTSW	12	72,711,581 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACCTGTTCTCCGTTCACTG -3'
(R):5'- ATCCTGAAAGAGTCTGGCTGAC -3'

Sequencing Primer
(F):5'- GAAAAGTGCTTTCCCTCAGGATC -3'
(R):5'- CTGGCTGACAGGTGGCC -3'

Posted On

2014-10-30