Mutagenetix > Incidental Mutation

Incidental Mutation 'R0569:Rdh10'

46279

Institutional Source

Beutler Lab

Gene Symbol

Rdh10

Ensembl Gene

ENSMUSG00000025921

Gene Name

retinol dehydrogenase 10 (all-trans)

Synonyms

3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e

MMRRC Submission

038760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R0569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16176106-16202774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 16199517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 241 (V241G)

Ref Sequence

ENSEMBL: ENSMUSP00000027053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027053]

AlphaFold

Q8VCH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027053
AA Change: V241G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: V241G

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:KR	37	231	3.1e-8	PFAM
Pfam:adh_short	90	259	1.8e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152626

Meta Mutation Damage Score

0.9108

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for null or hypomorphic alleles exhibit mid-gestational lethality, reduced Retinoic Acid signaling and abnormal limb, craniofacial, somite and cardiac morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,621,016 (GRCm39)	I572M	possibly damaging	Het
4930447A16Rik	T	C	15: 37,425,863 (GRCm39)	M1T	probably null	Het
4930590J08Rik	C	A	6: 91,919,559 (GRCm39)	C739*	probably null	Het
Adcy1	T	A	11: 7,096,514 (GRCm39)	V634E	probably benign	Het
Ankfy1	T	A	11: 72,644,434 (GRCm39)	H710Q	possibly damaging	Het
Ankrd60	C	T	2: 173,412,859 (GRCm39)	V90M	probably damaging	Het
Asgr2	A	T	11: 69,988,703 (GRCm39)	Q132L	probably benign	Het
Cchcr1	T	A	17: 35,839,865 (GRCm39)		probably null	Het
Ces1h	T	C	8: 94,078,774 (GRCm39)	K523E	unknown	Het
Clec3a	G	T	8: 115,152,476 (GRCm39)	G161C	probably damaging	Het
Cracr2b	G	A	7: 141,044,848 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,597,160 (GRCm39)	L17F	probably damaging	Het
Dhx29	T	A	13: 113,084,748 (GRCm39)	N655K	probably benign	Het
Dst	C	A	1: 34,332,508 (GRCm39)	L4748I	probably damaging	Het
Eif2b5	G	C	16: 20,321,303 (GRCm39)	L285F	probably benign	Het
Enox1	T	A	14: 77,875,117 (GRCm39)	D441E	probably damaging	Het
Fam110a	T	C	2: 151,812,404 (GRCm39)	E122G	probably damaging	Het
Fam161b	T	A	12: 84,395,413 (GRCm39)	E510V	probably damaging	Het
Gabrd	T	C	4: 155,469,880 (GRCm39)	Y443C	probably damaging	Het
Gcn1	T	G	5: 115,733,118 (GRCm39)	S1052A	probably benign	Het
Gnptab	A	G	10: 88,264,419 (GRCm39)	E279G	possibly damaging	Het
Hoxa6	T	A	6: 52,185,163 (GRCm39)		probably null	Het
Ibtk	T	A	9: 85,590,234 (GRCm39)		probably benign	Het
Il6ra	A	T	3: 89,785,149 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,032 (GRCm39)		probably benign	Het
Kcnk2	A	C	1: 189,071,998 (GRCm39)	L110R	probably damaging	Het
Knl1	T	A	2: 118,927,916 (GRCm39)	V1919D	possibly damaging	Het
Lrp1b	A	T	2: 40,779,251 (GRCm39)	L2597Q	probably benign	Het
Magi3	A	G	3: 103,923,358 (GRCm39)	S1120P	probably benign	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcat	C	T	15: 83,433,449 (GRCm39)	R198H	probably benign	Het
Mnd1	A	G	3: 84,012,286 (GRCm39)	V141A	probably benign	Het
Morc1	T	C	16: 48,407,485 (GRCm39)	L667P	probably benign	Het
Mrps6	A	G	16: 91,908,808 (GRCm39)	K125E	possibly damaging	Het
Mst1	T	C	9: 107,959,500 (GRCm39)	F262S	probably damaging	Het
Or5j3	T	G	2: 86,128,941 (GRCm39)	I260M	probably damaging	Het
Or7e178	T	A	9: 20,225,875 (GRCm39)	I114F	probably damaging	Het
Pbsn	C	G	X: 76,897,046 (GRCm39)	G15A	possibly damaging	Het
Pcnx1	T	C	12: 82,038,804 (GRCm39)	I2023T	probably benign	Het
Pds5a	T	G	5: 65,813,744 (GRCm39)	N247T	probably damaging	Het
Peak1	T	C	9: 56,167,373 (GRCm39)	Y185C	probably damaging	Het
Phkb	T	A	8: 86,744,031 (GRCm39)	I560N	probably damaging	Het
Plekhn1	T	C	4: 156,309,658 (GRCm39)	I160V	probably damaging	Het
Rabgap1	T	G	2: 37,379,729 (GRCm39)		probably benign	Het
Selenow	A	T	7: 15,654,042 (GRCm39)	C37S	probably benign	Het
Sema6a	A	T	18: 47,403,872 (GRCm39)		probably null	Het
Slc12a3	T	C	8: 95,057,153 (GRCm39)		probably null	Het
Slc22a21	T	G	11: 53,842,636 (GRCm39)	M498L	probably benign	Het
Spink5	A	T	18: 44,122,486 (GRCm39)	N317I	probably damaging	Het
Srek1	A	G	13: 103,885,370 (GRCm39)		probably benign	Het
Syt11	A	G	3: 88,655,230 (GRCm39)	V357A	probably benign	Het
Tcof1	T	A	18: 60,962,107 (GRCm39)	K707N	possibly damaging	Het
Tfip11	C	T	5: 112,475,960 (GRCm39)	R42C	probably damaging	Het
Trim39	T	C	17: 36,574,623 (GRCm39)	K260E	probably benign	Het
Ttn	T	C	2: 76,553,663 (GRCm39)	T22658A	possibly damaging	Het
Unc45b	C	T	11: 82,827,638 (GRCm39)		probably benign	Het
Vmn1r236	A	G	17: 21,507,172 (GRCm39)	I97V	probably benign	Het
Vps13c	T	C	9: 67,881,001 (GRCm39)	V657A	probably damaging	Het
Zkscan2	A	G	7: 123,097,898 (GRCm39)	V166A	probably benign	Het

Other mutations in Rdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Rdh10	APN	1	16,178,099 (GRCm39)	missense	probably benign
IGL01646:Rdh10	APN	1	16,178,246 (GRCm39)	missense	possibly damaging	0.90
IGL01820:Rdh10	APN	1	16,198,483 (GRCm39)	missense	possibly damaging	0.84
IGL02377:Rdh10	APN	1	16,176,438 (GRCm39)	nonsense	probably null
IGL03212:Rdh10	APN	1	16,178,051 (GRCm39)	missense	probably benign	0.03
R0039:Rdh10	UTSW	1	16,199,508 (GRCm39)	missense	probably damaging	0.97
R0042:Rdh10	UTSW	1	16,178,260 (GRCm39)	unclassified	probably benign
R0042:Rdh10	UTSW	1	16,178,260 (GRCm39)	unclassified	probably benign
R0109:Rdh10	UTSW	1	16,176,489 (GRCm39)	missense	probably damaging	0.97
R1272:Rdh10	UTSW	1	16,178,240 (GRCm39)	missense	probably damaging	1.00
R1633:Rdh10	UTSW	1	16,198,420 (GRCm39)	missense	possibly damaging	0.90
R2896:Rdh10	UTSW	1	16,176,329 (GRCm39)	splice site	probably null
R4623:Rdh10	UTSW	1	16,201,287 (GRCm39)	splice site	probably benign
R5095:Rdh10	UTSW	1	16,201,609 (GRCm39)	missense	probably benign	0.01
R5158:Rdh10	UTSW	1	16,178,221 (GRCm39)	missense	probably damaging	1.00
R5535:Rdh10	UTSW	1	16,201,408 (GRCm39)	missense	probably damaging	1.00
R6433:Rdh10	UTSW	1	16,178,079 (GRCm39)	missense	probably damaging	0.98
R6778:Rdh10	UTSW	1	16,176,408 (GRCm39)	missense	probably damaging	0.99
R6922:Rdh10	UTSW	1	16,176,255 (GRCm39)	missense	probably benign
R9145:Rdh10	UTSW	1	16,199,430 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTTCAAAGGGAAGCTCCCTC -3'
(R):5'- CTGACAGTTCATGTGCAAGACTGGC -3'

Sequencing Primer
(F):5'- TCTGCTTTGAACCACATCAGAGAG -3'
(R):5'- TGCAAGACTGGCTGACTG -3'

Posted On

2013-06-11