Mutagenetix > Incidental Mutations

Incidental Mutation 'R7076:Sdr16c5'

549204

Institutional Source

Beutler Lab

Gene Symbol

Sdr16c5

Ensembl Gene

ENSMUSG00000028236

Gene Name

short chain dehydrogenase/reductase family 16C, member 5

Synonyms

Rdhe2, Scdr9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3995936-4019663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4006591 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 234 (C234R)

Ref Sequence

ENSEMBL: ENSMUSP00000046298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040925]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040925
AA Change: C234R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: C234R

Domain	Start	End	E-Value	Type
Pfam:KR	41	233	1.8e-17	PFAM
Pfam:adh_short	41	238	1.7e-48	PFAM
Pfam:adh_short_C2	47	228	1.3e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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 alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 55,871,659	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,742,406	T523A	probably damaging	Het
Arrdc3	A	T	13: 80,890,696	K259M	probably damaging	Het
Becn1	A	T	11: 101,295,324	N151K	probably benign	Het
Cars2	C	T	8: 11,529,649	E270K	probably damaging	Het
Ccp110	C	A	7: 118,732,405	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,939,829	I466T	probably benign	Het
Cd164	A	G	10: 41,523,197	E94G	probably benign	Het
Cdon	C	T	9: 35,504,150	T1228I	probably benign	Het
Cubn	C	A	2: 13,306,280	V3145L	probably benign	Het
Cubn	T	A	2: 13,306,281	K3144N	probably benign	Het
Dchs1	A	G	7: 105,761,871	V1649A	probably benign	Het
Dgka	A	T	10: 128,733,583	D153E	probably damaging	Het
Dip2b	A	G	15: 100,157,972		probably null	Het
Dnajc21	T	C	15: 10,449,631	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,300,471	I209F	probably damaging	Het
Ghdc	C	A	11: 100,769,714	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,821,275	C229R		Het
Gpm6a	C	T	8: 55,037,451	T54I	probably damaging	Het
Gpr171	G	T	3: 59,098,156	A66E	probably damaging	Het
Grm7	A	G	6: 111,358,152	D508G	probably benign	Het
Has1	G	A	17: 17,843,806	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv3-8	A	T	12: 114,322,782	L7Q	probably damaging	Het
Ints10	A	T	8: 68,796,751	R78*	probably null	Het
Itpr1	A	G	6: 108,388,296	I903V	probably benign	Het
Lrp1	A	G	10: 127,550,183		probably null	Het
Mki67	A	G	7: 135,705,629	V132A	probably damaging	Het
Myh4	A	G	11: 67,253,173	E1123G	possibly damaging	Het
Neurog3	A	G	10: 62,133,580	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095		probably null	Het
Nr4a3	G	A	4: 48,055,957	V328I	probably damaging	Het
Olfr1489	G	T	19: 13,633,880	M256I	possibly damaging	Het
Olfr313	G	A	11: 58,817,164	R52Q	probably benign	Het
Olfr487	A	T	7: 108,211,998	V177D	probably damaging	Het
Olfr654	A	T	7: 104,588,223	S140C	probably damaging	Het
Olfr716	T	C	7: 107,148,029	F238L	probably damaging	Het
Olfr743	T	A	14: 50,533,821	Y136*	probably null	Het
Osbpl5	A	G	7: 143,709,840	L102P	probably benign	Het
Ppl	C	T	16: 5,100,119	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,876,597	M321T	possibly damaging	Het
Prex1	T	C	2: 166,633,382	Y197C	probably damaging	Het
Prss32	A	G	17: 23,853,921	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,721,576	E1210G	possibly damaging	Het
Slc23a4	A	G	6: 34,956,884	S95P	probably damaging	Het
Srp14	T	C	2: 118,479,390	T29A	probably damaging	Het
Tet2	T	A	3: 133,467,023	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,583,574	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,287,421	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,428,735	D62G	probably benign	Het
Usp12	A	G	5: 146,737,752	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,558,476	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,017,896	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,606,939	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,375,156	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,769,751	H1104R	probably benign	Het
Znrf2	T	A	6: 54,842,695	*75K	probably null	Het
Zzef1	T	C	11: 72,899,559	V2113A	probably benign	Het

Other mutations in Sdr16c5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Sdr16c5	APN	4	4012320	splice site	probably benign
IGL02230:Sdr16c5	APN	4	4016354	missense	probably damaging	0.99
IGL03090:Sdr16c5	APN	4	4006575	splice site	probably benign
PIT4802001:Sdr16c5	UTSW	4	4012423	missense	probably damaging	1.00
R0377:Sdr16c5	UTSW	4	4005546	missense	probably benign	0.03
R0610:Sdr16c5	UTSW	4	4016116	missense	possibly damaging	0.81
R2012:Sdr16c5	UTSW	4	3996244	missense	probably benign
R3735:Sdr16c5	UTSW	4	4005614	missense	probably benign
R3839:Sdr16c5	UTSW	4	4006601	missense	probably damaging	0.96
R3896:Sdr16c5	UTSW	4	4006609	missense	probably damaging	1.00
R4824:Sdr16c5	UTSW	4	4016216	nonsense	probably null
R5024:Sdr16c5	UTSW	4	4010365	missense	probably damaging	1.00
R5194:Sdr16c5	UTSW	4	4006663	missense	probably benign	0.16
R5395:Sdr16c5	UTSW	4	4016277	missense	probably benign	0.12
R6267:Sdr16c5	UTSW	4	4016162	missense	probably damaging	1.00
R6352:Sdr16c5	UTSW	4	4016421	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGATGGGTACTAATTGGGCC -3'
(R):5'- CCAGTCAGACCTGAACACTTTAG -3'

Sequencing Primer
(F):5'- GGGCCTTGTAATCATTATCAATCAGG -3'
(R):5'- AGTCAGACCTGAACACTTTAGCTCTC -3'

Posted On

2019-05-15