Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Rdh5'

426516

Institutional Source

Beutler Lab

Gene Symbol

Rdh5

Ensembl Gene

ENSMUSG00000025350

Gene Name

retinol dehydrogenase 5

Synonyms

cRDH

MMRRC Submission

042979-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128749457-128755906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128754160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 21 (Q21L)

Ref Sequence

ENSEMBL: ENSMUSP00000123183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026405] [ENSMUST00000026406] [ENSMUST00000131271] [ENSMUST00000135161] [ENSMUST00000137747] [ENSMUST00000145616] [ENSMUST00000149961] [ENSMUST00000153731]

AlphaFold

O55240

Predicted Effect

probably benign
Transcript: ENSMUST00000026405

SMART Domains

Protein: ENSMUSP00000026405
Gene: ENSMUSG00000090247

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	5	125	3.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026406
AA Change: Q91L

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350
AA Change: Q91L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	194	3.6e-23	PFAM
Pfam:adh_short_C2	35	230	6.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131271

SMART Domains

Protein: ENSMUSP00000114321
Gene: ENSMUSG00000090247

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	4	121	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135161

SMART Domains

Protein: ENSMUSP00000115182
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
transmembrane domain	59	78	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137747

SMART Domains

Protein: ENSMUSP00000116558
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
PDB:2JAP\|D	1	80	6e-11	PDB
SCOP:d1hu4a_	1	151	1e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141320

Predicted Effect

probably benign
Transcript: ENSMUST00000145616
AA Change: Q91L

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123358
Gene: ENSMUSG00000025350
AA Change: Q91L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	175	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149961
AA Change: Q21L

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350
AA Change: Q21L

Domain	Start	End	E-Value	Type
Pfam:adh_short	2	124	4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153935

Predicted Effect

probably benign
Transcript: ENSMUST00000153731

SMART Domains

Protein: ENSMUSP00000117408
Gene: ENSMUSG00000090247

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	5	92	1.6e-38	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit an impaired dark adaptation and at high bleaching levels, a large increase in 11-cis-retinyl ester concentration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,134,103 (GRCm39)	M524V	probably benign	Het
Adamts20	T	A	15: 94,179,838 (GRCm39)	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,486,985 (GRCm39)	I1350L	probably damaging	Het
Arhgap17	A	G	7: 122,896,716 (GRCm39)		probably null	Het
Ascl5	A	T	1: 135,978,926 (GRCm39)	I129F	probably damaging	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,112,155 (GRCm39)	N564Y	probably benign	Het
Cdon	G	T	9: 35,381,331 (GRCm39)	D574Y	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Ces1e	T	A	8: 93,937,070 (GRCm39)	I334F	possibly damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,255,314 (GRCm39)	T195S	probably benign	Het
Csmd2	C	A	4: 128,442,612 (GRCm39)	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,687,728 (GRCm39)	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,419,297 (GRCm39)	T696M	probably benign	Het
Ep300	T	C	15: 81,533,055 (GRCm39)	M1704T	unknown	Het
Exoc2	A	G	13: 31,048,839 (GRCm39)	F738S	probably damaging	Het
Fis1	A	G	5: 136,994,420 (GRCm39)	E36G	probably damaging	Het
Galnt1	A	G	18: 24,400,604 (GRCm39)	I237V	probably benign	Het
Gspt1	A	T	16: 11,048,374 (GRCm39)	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hykk	G	A	9: 54,853,350 (GRCm39)	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,733,829 (GRCm39)	T111A	probably benign	Het
Il17rd	T	C	14: 26,817,868 (GRCm39)	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,141,366 (GRCm39)	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,807,143 (GRCm39)	T213A	probably damaging	Het
Madd	C	T	2: 90,984,859 (GRCm39)	R1318Q	probably damaging	Het
Mecom	C	A	3: 30,051,870 (GRCm39)	A182S	probably benign	Het
Or13c25	C	A	4: 52,910,991 (GRCm39)	A268S	probably benign	Het
Or1e1	C	T	11: 73,244,632 (GRCm39)	P18S	probably benign	Het
Or4f56	C	T	2: 111,703,637 (GRCm39)	A188T	probably damaging	Het
Or52z1	A	T	7: 103,436,581 (GRCm39)	V301E	probably damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
Pdia5	A	G	16: 35,273,906 (GRCm39)	V130A	probably damaging	Het
Phldb2	T	A	16: 45,645,975 (GRCm39)	H202L	possibly damaging	Het
Ppig	G	A	2: 69,566,241 (GRCm39)	G136E	probably null	Het
Prr14l	C	A	5: 32,985,121 (GRCm39)	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019 (GRCm39)	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,024,235 (GRCm39)	V182A	possibly damaging	Het
Rai14	A	G	15: 10,575,024 (GRCm39)	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,804,042 (GRCm39)	I115T	probably benign	Het
Rc3h1	G	T	1: 160,792,533 (GRCm39)	R990L	possibly damaging	Het
Rfx8	A	G	1: 39,749,316 (GRCm39)		probably null	Het
Scap	A	G	9: 110,203,250 (GRCm39)		probably null	Het
Shank1	T	A	7: 44,001,246 (GRCm39)	S988R	unknown	Het
Slc16a14	T	A	1: 84,885,145 (GRCm39)	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,117,232 (GRCm39)		probably null	Het
Tab2	T	C	10: 7,795,585 (GRCm39)	H225R	possibly damaging	Het
Tbx19	T	A	1: 164,987,941 (GRCm39)	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,677,965 (GRCm39)	I268K	probably damaging	Het
Tox2	A	G	2: 163,162,293 (GRCm39)	M388V	probably benign	Het
Trbv17	T	C	6: 41,140,472 (GRCm39)	L109P	probably damaging	Het
Trim72	A	G	7: 127,609,095 (GRCm39)	H299R	probably damaging	Het
Ulbp3	G	A	10: 3,076,473 (GRCm39)		noncoding transcript	Het
Vmn1r63	C	T	7: 5,806,189 (GRCm39)	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,061,092 (GRCm39)	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,657,739 (GRCm39)	V724A	probably benign	Het
Zscan10	T	C	17: 23,829,395 (GRCm39)	F569L	probably damaging	Het

Other mutations in Rdh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4750:Rdh5	UTSW	10	128,754,235 (GRCm39)	missense	possibly damaging	0.92
R4965:Rdh5	UTSW	10	128,749,653 (GRCm39)	missense	probably damaging	1.00
R5893:Rdh5	UTSW	10	128,750,090 (GRCm39)	splice site	probably null
R5949:Rdh5	UTSW	10	128,754,136 (GRCm39)	missense	probably benign
R6541:Rdh5	UTSW	10	128,753,977 (GRCm39)	missense	possibly damaging	0.82
R7159:Rdh5	UTSW	10	128,754,184 (GRCm39)	missense	possibly damaging	0.86
R8171:Rdh5	UTSW	10	128,753,969 (GRCm39)	missense	probably benign	0.00
R8460:Rdh5	UTSW	10	128,754,136 (GRCm39)	missense	probably benign
R9405:Rdh5	UTSW	10	128,753,937 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCAGCGTTATTCACCAGAC -3'
(R):5'- TGCTGTGGTTGCTCAGAGAC -3'

Sequencing Primer
(F):5'- CCAGACCAAAAAGTCCTGTGGG -3'
(R):5'- TTGCTCAGAGACCGGCAGAG -3'

Posted On

2016-09-01