Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Rdh10'

172889

Institutional Source

Beutler Lab

Gene Symbol

Rdh10

Ensembl Gene

ENSMUSG00000025921

Gene Name

retinol dehydrogenase 10 (all-trans)

Synonyms

3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16176106-16202774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16198420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 186 (E186G)

Ref Sequence

ENSEMBL: ENSMUSP00000027053 (fasta)

Gene Model

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

AlphaFold

Q8VCH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027053
AA Change: E186G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: E186G

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

0.0669

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Dock8	A	G	19: 25,028,927 (GRCm39)	T44A	probably benign	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Eif5	T	A	12: 111,506,721 (GRCm39)	N104K	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Mepe	G	T	5: 104,485,540 (GRCm39)	V227F	probably benign	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Or2c1	A	C	16: 3,657,396 (GRCm39)	K186N	probably damaging	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vezt	T	A	10: 93,820,138 (GRCm39)	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		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
R0569:Rdh10	UTSW	1	16,199,517 (GRCm39)	missense	probably damaging	1.00
R1272:Rdh10	UTSW	1	16,178,240 (GRCm39)	missense	probably damaging	1.00
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'- TCTGCCGCTGTCGCTTGAAAAG -3'
(R):5'- TGTCCTGTGTTAGAGGGAAGCACC -3'

Sequencing Primer
(F):5'- TACGGTGCTAAGTTAACCAGAC -3'
(R):5'- TGTTAGAGGGAAGCACCGTTAG -3'

Posted On

2014-04-24