Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Rdh5'

520776

Institutional Source

Beutler Lab

Gene Symbol

Rdh5

Ensembl Gene

ENSMUSG00000025350

Gene Name

retinol dehydrogenase 5

Synonyms

cRDH

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

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

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128749457-128755906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128753977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

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

possibly damaging
Transcript: ENSMUST00000026406
AA Change: V114A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350
AA Change: V114A

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

possibly damaging
Transcript: ENSMUST00000145616
AA Change: V114A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123358
Gene: ENSMUSG00000025350
AA Change: V114A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149961
AA Change: V44A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350
AA Change: V44A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143628

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

Meta Mutation Damage Score

0.2478

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cdkl3	T	G	11: 51,913,571 (GRCm39)	L220R	probably damaging	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Ndufa11	T	A	17: 57,024,867 (GRCm39)	S10T	probably benign	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pacsin3	A	G	2: 91,093,129 (GRCm39)	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,542,748 (GRCm39)	T343A	probably benign	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 87,999,318 (GRCm39)	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	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
R5410:Rdh5	UTSW	10	128,754,160 (GRCm39)	missense	probably benign	0.21
R5893:Rdh5	UTSW	10	128,750,090 (GRCm39)	splice site	probably null
R5949:Rdh5	UTSW	10	128,754,136 (GRCm39)	missense	probably benign
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'- AAACTTGGAGACACAGTAGCCC -3'
(R):5'- TCCCCAGAATGTCCAGCAAG -3'

Sequencing Primer
(F):5'- ACAGTAGCCCCCGCCATTG -3'
(R):5'- TGTCCAGCAAGTTGCCAAGTG -3'

Posted On

2018-06-06