Mutagenetix > Incidental Mutations

Incidental Mutation 'R5270:Rrh'

472463

Institutional Source

Beutler Lab

Gene Symbol

Rrh

Ensembl Gene

ENSMUSG00000028012

Gene Name

retinal pigment epithelium derived rhodopsin homolog

Synonyms

Peropsin

MMRRC Submission

042835-MU

Accession Numbers

Genbank: NM_009102.3; Ensembl: ENSMUST00000029648, ENSMUST00000078035 ,ENSMUST00000090295, ENSMUST00000171313

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129804408-129822587 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129813349 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 142 (I142V)

Ref Sequence

ENSEMBL: ENSMUSP00000029648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029648] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]

Predicted Effect

probably benign
Transcript: ENSMUST00000029648
AA Change: I142V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: I142V

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171313
AA Change: I100V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: I100V

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	4.6e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196317

Predicted Effect

probably benign
Transcript: ENSMUST00000196902
AA Change: I100V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: I100V

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197295

Predicted Effect

probably benign
Transcript: ENSMUST00000197535

Predicted Effect

probably benign
Transcript: ENSMUST00000200079

SMART Domains

Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7tm_1	30	197	3.1e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,294,218	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,544,127	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,282,519	P1752S	probably benign	Het
Atpif1	A	G	4: 132,533,300	F27L	probably damaging	Het
B230104I21Rik	A	G	4: 154,349,593		probably benign	Het
C77080	T	C	4: 129,224,212	T208A	possibly damaging	Het
Ciz1	C	A	2: 32,374,499		probably null	Het
Crb1	T	A	1: 139,236,864	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,291,982		probably null	Het
Cyp3a25	A	T	5: 145,981,502	M433K	probably benign	Het
D1Ertd622e	T	C	1: 97,645,995	Q115R	probably damaging	Het
Dock4	A	G	12: 40,733,271	I735V	probably benign	Het
Dpp6	C	T	5: 27,634,534	S349L	probably damaging	Het
Epg5	T	A	18: 77,983,563	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,506,607	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,108,326	D155V	probably damaging	Het
Gm13103	A	G	4: 143,851,898	M243V	probably damaging	Het
Gpr35	A	T	1: 92,982,577	T4S	probably benign	Het
Hcrt	T	C	11: 100,761,997	T64A	probably damaging	Het
Henmt1	G	A	3: 108,960,214	R355H	probably benign	Het
Hrh1	C	A	6: 114,481,218	R487S	possibly damaging	Het
Ints2	T	C	11: 86,215,795	S930G	probably damaging	Het
Irs2	G	A	8: 11,006,678	Q585*	probably null	Het
Kcns1	C	A	2: 164,168,329	R170L	probably benign	Het
Kdm3b	T	C	18: 34,827,414	S1351P	probably damaging	Het
Ly9	T	C	1: 171,601,162	T297A	probably damaging	Het
M6pr	G	A	6: 122,315,089	D127N	possibly damaging	Het
Nit2	G	A	16: 57,157,131	P179S	probably damaging	Het
Per1	T	C	11: 69,103,598	M516T	probably benign	Het
Pkdrej	A	T	15: 85,818,327	I1136N	probably damaging	Het
Prdm9	G	T	17: 15,553,363	T257K	probably benign	Het
Prkdc	T	C	16: 15,734,955	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 90,026,694	E1240D	probably benign	Het
Saal1	G	T	7: 46,701,733		probably benign	Het
Sdcbp2	A	G	2: 151,584,892	I70V	probably benign	Het
Skida1	C	A	2: 18,047,649	A231S	probably benign	Het
Smtnl2	T	A	11: 72,399,917	T401S	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Spag4	G	T	2: 156,065,933		probably benign	Het
Tbc1d9	A	G	8: 83,233,654	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,636,481	T520N	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Vmn1r47	A	T	6: 90,022,543	Q219L	probably damaging	Het
Vmn2r104	A	T	17: 20,038,266	C539S	probably damaging	Het
Wdr17	G	T	8: 54,643,186	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,434,515	T850A	unknown	Het
Zfa-ps	A	G	10: 52,543,456		noncoding transcript	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,081,535		noncoding transcript	Het
Zfp607a	A	T	7: 27,878,305	K267*	probably null	Het

Other mutations in Rrh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Rrh	APN	3	129822425	missense	possibly damaging	0.53
IGL01368:Rrh	APN	3	129808969	missense	probably benign	0.02
IGL02206:Rrh	APN	3	129811697	missense	probably benign	0.40
IGL02577:Rrh	APN	3	129815723	missense	probably damaging	0.98
B6584:Rrh	UTSW	3	129811742	missense	probably damaging	1.00
R1822:Rrh	UTSW	3	129812633	missense	probably damaging	0.99
R2114:Rrh	UTSW	3	129810687	missense	probably damaging	1.00
R2115:Rrh	UTSW	3	129810687	missense	probably damaging	1.00
R2116:Rrh	UTSW	3	129810687	missense	probably damaging	1.00
R2484:Rrh	UTSW	3	129822391	missense	probably damaging	1.00
R2913:Rrh	UTSW	3	129815609	missense	probably damaging	0.99
R3236:Rrh	UTSW	3	129811711	missense	probably damaging	1.00
R3237:Rrh	UTSW	3	129811711	missense	probably damaging	1.00
R5221:Rrh	UTSW	3	129815631	missense	probably damaging	0.99
R7036:Rrh	UTSW	3	129815693	missense	possibly damaging	0.54
R7334:Rrh	UTSW	3	129808982	missense	probably benign	0.00
R7339:Rrh	UTSW	3	129810613	missense	probably damaging	1.00
R7779:Rrh	UTSW	3	129815320	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTACTTTAAGACAAATGCGTGTT -3'
(R):5'- TGTGTGAAAAGTATTCTAACAATGAGG -3'

Sequencing Primer
(F):5'- ACAAATGCGTGTTGAATGACTG -3'
(R):5'- CTCAGTGGGTAAAAATGCTTGC -3'

Posted On

2017-04-07