Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Rdh5'

634135

Institutional Source

Beutler Lab

Gene Symbol

Rdh5

Ensembl Gene

ENSMUSG00000025350

Gene Name

retinol dehydrogenase 5

Synonyms

cRDH

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128913593-128922888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128918100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 117 (I117V)

Ref Sequence

ENSEMBL: ENSMUSP00000026406 (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: I117V

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

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350
AA Change: I117V

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

probably benign
Transcript: ENSMUST00000145616
AA Change: I117V

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

SMART Domains

Protein: ENSMUSP00000123358
Gene: ENSMUSG00000025350
AA Change: I117V

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: I47V

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

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350
AA Change: I47V

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

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,025	A661E	probably benign	Het
4932438A13Rik	T	C	3: 36,975,713	V2423A	probably benign	Het
4933425L06Rik	T	A	13: 105,109,783	V284E	probably benign	Het
Abhd14a	T	A	9: 106,440,761	T142S	probably benign	Het
Actn1	A	G	12: 80,196,393		probably null	Het
Adss	T	C	1: 177,796,351	N15S	probably benign	Het
Alpk2	A	G	18: 65,305,983	S780P	probably benign	Het
Asap1	G	T	15: 64,110,966	L830M	probably damaging	Het
Atic	T	C	1: 71,569,873	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,046,044	I87N	probably damaging	Het
Bace2	G	T	16: 97,424,586	V407L	possibly damaging	Het
Bmp3	A	T	5: 98,872,669	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,933,711	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,516,554	L89Q	probably damaging	Het
Cep83	T	A	10: 94,768,935	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,147,207	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,288	D579E	probably damaging	Het
Chd9	T	A	8: 91,025,387	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,903,906	T937S	possibly damaging	Het
Clock	T	A	5: 76,266,414	D17V	possibly damaging	Het
Cpm	T	C	10: 117,683,315	L376P	probably damaging	Het
Crocc2	T	C	1: 93,189,001		probably null	Het
Csnk1g2	A	G	10: 80,639,802	D401G	probably damaging	Het
Cyb5r4	C	T	9: 87,042,810	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,700,196	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,085,774	H30L	probably damaging	Het
Dab2	G	A	15: 6,423,926	V182I	probably benign	Het
Dnah1	G	T	14: 31,297,110	F1342L	probably damaging	Het
Draxin	A	T	4: 148,115,666	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,971,357	V39M	probably damaging	Het
Erlin1	A	G	19: 44,069,329	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,300,078	S78T	possibly damaging	Het
Fer1l4	A	G	2: 156,048,231	V258A	probably benign	Het
Fgb	T	C	3: 83,042,515	D445G	probably damaging	Het
Fgd6	T	C	10: 94,074,332		probably null	Het
Frem3	T	A	8: 80,615,240	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,609,903	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167	A511V	probably benign	Het
Gldc	A	T	19: 30,133,761	N538K	probably benign	Het
Glipr1l1	C	T	10: 112,078,384	P217S	probably benign	Het
Gm15800	A	G	5: 121,318,756	E728G	possibly damaging	Het
Gm35339	C	A	15: 76,363,619	F1614L		Het
Gpr161	A	G	1: 165,306,436	N89S	probably damaging	Het
Gypa	T	A	8: 80,509,463	S166T	probably benign	Het
Hcar1	A	G	5: 123,879,089	S180P	probably damaging	Het
Hcn1	T	C	13: 117,602,734	S11P	unknown	Het
Itih1	A	T	14: 30,937,090	M323K	possibly damaging	Het
Ivl	A	G	3: 92,571,778	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,509,465	N545K	probably benign	Het
Kdm4b	A	T	17: 56,389,534	R417W	probably damaging	Het
Kif13a	T	C	13: 46,778,968	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,778,557	H261L	probably benign	Het
Kpnb1	A	G	11: 97,175,747		probably null	Het
Lamc3	C	A	2: 31,914,971	T621N	probably benign	Het
Lingo3	T	C	10: 80,834,761	H445R	probably benign	Het
Ly75	G	A	2: 60,314,228	T1297I	possibly damaging	Het
Lypd6	C	T	2: 50,190,747	T149M	possibly damaging	Het
Mcrs1	A	T	15: 99,248,732	D139E	probably damaging	Het
Muc5b	G	A	7: 141,861,000	S2561N	unknown	Het
Mybpc1	C	T	10: 88,523,003	G1095R	probably damaging	Het
Myh1	A	G	11: 67,202,572	Y163C	probably damaging	Het
Notch4	T	A	17: 34,582,509	C1110*	probably null	Het
Olfr1257	A	G	2: 89,881,065	I80V	probably benign	Het
Olfr527	A	T	7: 140,336,230	I123F	probably damaging	Het
Olfr705	C	T	7: 106,714,618	S21N	probably benign	Het
Olfr705	T	A	7: 106,714,619	S21C		Het
Pcsk1	T	A	13: 75,090,091	C10*	probably null	Het
Pdlim5	A	T	3: 142,312,187	S107T	probably benign	Het
Plac8l1	T	A	18: 42,180,380	D99V	probably damaging	Het
Plin2	A	T	4: 86,657,112	V400E	probably damaging	Het
Plxna1	G	A	6: 89,357,120	P176S	probably benign	Het
Pnn	A	G	12: 59,070,437	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,510,036	E231G	probably benign	Het
Ppara	A	T	15: 85,797,876	M258L	probably benign	Het
Prune2	G	A	19: 17,120,518	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,163	T47M	probably damaging	Het
Rpain	G	A	11: 70,973,898	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,530,810	V126A	possibly damaging	Het
Senp7	G	T	16: 56,111,726	L129F	probably damaging	Het
Setd1a	A	G	7: 127,791,227	D1025G	unknown	Het
Sirt4	A	T	5: 115,483,023	V30E	probably damaging	Het
Slit1	C	A	19: 41,727,073	R113L	probably damaging	Het
Stxbp5l	G	A	16: 37,208,054	T549I	noncoding transcript	Het
Sytl2	A	G	7: 90,409,470	M926V	probably damaging	Het
Tgfbr2	C	T	9: 116,130,006	W113*	probably null	Het
Tmem86a	A	G	7: 47,053,764	Y213C	probably damaging	Het
Tpo	T	A	12: 30,104,046	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,673,310	A889E	probably damaging	Het
Tyw1	A	G	5: 130,300,014	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,409,227	K17R	probably benign	Het
Usp46	T	A	5: 74,002,693	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,573,092	H61R	probably benign	Het
Vwa9	A	T	9: 64,973,250	H213L	possibly damaging	Het
Wdr75	T	A	1: 45,822,546	N715K	probably benign	Het
Zfp772	A	T	7: 7,204,097	C198*	probably null	Het

Other mutations in Rdh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4750:Rdh5	UTSW	10	128918366	missense	possibly damaging	0.92
R4965:Rdh5	UTSW	10	128913784	missense	probably damaging	1.00
R5410:Rdh5	UTSW	10	128918291	missense	probably benign	0.21
R5893:Rdh5	UTSW	10	128914221	splice site	probably null
R5949:Rdh5	UTSW	10	128918267	missense	probably benign
R6541:Rdh5	UTSW	10	128918108	missense	possibly damaging	0.82
R7159:Rdh5	UTSW	10	128918315	missense	possibly damaging	0.86
R8460:Rdh5	UTSW	10	128918267	missense	probably benign
R9405:Rdh5	UTSW	10	128918068	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACTTGGAGACACAGTAGCCCC -3'
(R):5'- TGATCCCCAGAATGTCCAGC -3'

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

Posted On

2020-07-13