Mutagenetix > Incidental Mutation

Incidental Mutation 'R4492:Dhrs7'

330797

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

041581-MU

Accession Numbers

Essential gene?

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

Stock #

R4492 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72697127-72711678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72699899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 244 (N244K)

Ref Sequence

ENSEMBL: ENSMUSP00000021512 (fasta)

Gene Model

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

AlphaFold

Q9CXR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021512
AA Change: N244K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: N244K

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

probably benign
Transcript: ENSMUST00000221750
AA Change: N267K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	G	10: 89,561,676 (GRCm39)	I157L	probably benign	Het
Amph	T	C	13: 19,333,928 (GRCm39)	V663A	possibly damaging	Het
Anapc16	A	G	10: 59,826,724 (GRCm39)	S50P	possibly damaging	Het
Ank3	T	A	10: 69,644,755 (GRCm39)	V60D	probably damaging	Het
Btbd9	A	G	17: 30,746,545 (GRCm39)	Y94H	probably damaging	Het
Chil3	A	G	3: 106,063,017 (GRCm39)	I191T	probably damaging	Het
Clpb	T	C	7: 101,436,929 (GRCm39)	L668P	probably damaging	Het
Cyp2d22	G	A	15: 82,258,571 (GRCm39)	H97Y	probably benign	Het
Dusp4	C	T	8: 35,274,890 (GRCm39)	T3M	possibly damaging	Het
Edc4	GGATTTTAGCCA	G	8: 106,611,700 (GRCm39)		probably null	Het
Etl4	G	A	2: 20,811,676 (GRCm39)	S1621N	possibly damaging	Het
Fam174a	T	C	1: 95,241,701 (GRCm39)	S54P	probably benign	Het
Fdxacb1	T	C	9: 50,681,547 (GRCm39)	F7S	probably damaging	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,468 (GRCm39)	L268H	probably damaging	Het
Gpr17	A	T	18: 32,080,304 (GRCm39)	I253N	possibly damaging	Het
H2-T23	A	T	17: 36,343,058 (GRCm39)	N106K	probably damaging	Het
Hspa4	T	C	11: 53,171,296 (GRCm39)	R303G	probably damaging	Het
Irgm1	G	A	11: 48,756,955 (GRCm39)		silent	Het
Jph1	A	C	1: 17,067,770 (GRCm39)	I114S	probably damaging	Het
Kcna1	C	T	6: 126,619,238 (GRCm39)	D361N	possibly damaging	Het
Kcna4	G	A	2: 107,126,436 (GRCm39)	R390Q	probably damaging	Het
Lum	C	A	10: 97,404,300 (GRCm39)	P65H	probably damaging	Het
Mc4r	A	G	18: 66,992,711 (GRCm39)	L134P	probably benign	Het
Mroh8	A	T	2: 157,099,960 (GRCm39)	I248N	probably damaging	Het
Nos2	A	G	11: 78,840,921 (GRCm39)	T677A	probably benign	Het
Nup37	T	A	10: 88,010,791 (GRCm39)	F257I	possibly damaging	Het
Or13c3	T	C	4: 52,855,764 (GRCm39)	I250V	probably benign	Het
Or6k6	C	T	1: 173,944,770 (GRCm39)	V271I	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pdzd2	A	C	15: 12,419,567 (GRCm39)	M501R	possibly damaging	Het
Pitx1	T	C	13: 55,976,465 (GRCm39)	K65E	probably benign	Het
Pla1a	C	T	16: 38,229,972 (GRCm39)	A247T	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Prss8	A	G	7: 127,528,979 (GRCm39)	S26P	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rock2	T	A	12: 17,027,684 (GRCm39)	C1334S	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	A	G	12: 103,613,146 (GRCm39)	W385R	probably damaging	Het
Slc12a5	T	C	2: 164,821,263 (GRCm39)	M249T	probably benign	Het
Srsf9	T	A	5: 115,470,651 (GRCm39)	I117N	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc21a	T	C	9: 119,770,346 (GRCm39)	V139A	probably benign	Het
Zfp236	A	T	18: 82,648,125 (GRCm39)	V1012D	probably damaging	Het
Zfp612	C	A	8: 110,815,929 (GRCm39)	Q379K	probably damaging	Het
Zfp930	C	T	8: 69,680,898 (GRCm39)	Q198*	probably null	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
R2356:Dhrs7	UTSW	12	72,699,155 (GRCm39)	missense	probably benign	0.00
R3431:Dhrs7	UTSW	12	72,711,501 (GRCm39)	missense	probably damaging	0.99
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'- AATGCAAGTCTGGCAATGC -3'
(R):5'- CCTGAGAGTCGTACATCAGTGTC -3'

Sequencing Primer
(F):5'- TGGCAATGCGCTAGCTG -3'
(R):5'- GAGAGTCGTACATCAGTGTCCTACC -3'

Posted On

2015-07-21