Mutagenetix > Incidental Mutations

Incidental Mutation 'R2484:Rrh'

250788

Institutional Source

Beutler Lab

Gene Symbol

Rrh

Ensembl Gene

ENSMUSG00000028012

Gene Name

retinal pigment epithelium derived rhodopsin homolog

Synonyms

Peropsin

MMRRC Submission

040408-MU

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2484 (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 129822391 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 31 (Y31C)

Ref Sequence

ENSEMBL: ENSMUSP00000143093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029643] [ENSMUST00000029648] [ENSMUST00000134174] [ENSMUST00000149071] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]

Predicted Effect

probably benign
Transcript: ENSMUST00000029643

SMART Domains

Protein: ENSMUSP00000029643
Gene: ENSMUSG00000028010

Domain	Start	End	E-Value	Type
Pfam:Gar1	63	180	2.6e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000029648
AA Change: Y31C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: Y31C

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: ENSMUST00000127864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128441

Predicted Effect

probably benign
Transcript: ENSMUST00000134174

SMART Domains

Protein: ENSMUSP00000115191
Gene: ENSMUSG00000028010

Domain	Start	End	E-Value	Type
Pfam:Gar1	1	79	2.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143545

Predicted Effect

probably benign
Transcript: ENSMUST00000149071

SMART Domains

Protein: ENSMUSP00000118752
Gene: ENSMUSG00000028010

Domain	Start	End	E-Value	Type
Pfam:Gar1	57	198	1.6e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171313
AA Change: Y31C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: Y31C

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: ENSMUST00000196281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196317

Predicted Effect

probably damaging
Transcript: ENSMUST00000196902
AA Change: Y31C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: Y31C

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

unknown
Transcript: ENSMUST00000197535
AA Change: Y24C

Predicted Effect

probably benign
Transcript: ENSMUST00000200079
AA Change: Y31C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
AA Change: Y31C

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

0.1697

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,882,641	N252S	probably benign	Het
4932414N04Rik	G	A	2: 68,711,475	D46N	possibly damaging	Het
A830018L16Rik	G	T	1: 11,596,302	A278S	probably damaging	Het
Adarb2	A	T	13: 8,569,774	K99*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atxn1l	A	G	8: 109,732,251	S460P	probably damaging	Het
Bicra	T	A	7: 15,988,680	N304I	possibly damaging	Het
Capn10	A	T	1: 92,944,843	D470V	probably damaging	Het
Chchd3	A	G	6: 32,804,015	Y184H	possibly damaging	Het
Col6a6	T	C	9: 105,780,804	I736M	probably damaging	Het
Dhx36	T	A	3: 62,472,815	N820I	probably damaging	Het
Drd4	C	T	7: 141,294,736	P347S	probably benign	Het
Ephx1	A	T	1: 180,989,972	V378D	probably damaging	Het
Extl3	A	T	14: 65,075,735	V666E	probably damaging	Het
Fam20c	G	C	5: 138,809,117	R500S	probably benign	Het
Glod4	A	T	11: 76,239,518	D42E	probably damaging	Het
Golga2	T	C	2: 32,304,770	I643T	probably benign	Het
Hnf1b	A	T	11: 83,861,835	T73S	probably benign	Het
Hydin	A	G	8: 110,513,115	Y2009C	possibly damaging	Het
Ido2	A	G	8: 24,533,815	C336R	probably damaging	Het
Ifngr1	T	C	10: 19,601,415	V108A	probably damaging	Het
Igbp1b	A	T	6: 138,657,494	N317K	probably benign	Het
Ints14	A	G	9: 64,986,084	S511G	probably benign	Het
Itpr1	T	C	6: 108,369,110	S125P	probably damaging	Het
Jag1	T	C	2: 137,084,700	T975A	possibly damaging	Het
Klra17	A	G	6: 129,868,757	W165R	probably damaging	Het
Leo1	T	A	9: 75,445,473	N99K	possibly damaging	Het
Lonp1	C	A	17: 56,614,659	G883C	probably damaging	Het
Lpin1	C	A	12: 16,547,499	G682W	probably damaging	Het
Macf1	A	C	4: 123,473,672	L2432R	probably damaging	Het
Med12l	T	G	3: 59,297,838	I2075M	probably benign	Het
Mroh6	A	G	15: 75,884,328	S660P	probably benign	Het
Myh6	G	T	14: 54,961,242	Y309*	probably null	Het
Myof	C	T	19: 37,903,843	R1154H	probably benign	Het
Myrip	G	A	9: 120,424,619	E253K	probably benign	Het
Ndst3	T	C	3: 123,552,537	D281G	possibly damaging	Het
Nipbl	T	C	15: 8,323,698	K1788R	probably damaging	Het
Nol12	A	G	15: 78,940,517		probably benign	Het
Nptn	A	G	9: 58,643,673	T212A	possibly damaging	Het
Nptx2	C	T	5: 144,556,345	A414V	probably damaging	Het
Nub1	A	G	5: 24,708,702	D503G	possibly damaging	Het
Obscn	T	A	11: 59,007,540		probably benign	Het
Olfr1253	A	G	2: 89,752,234	I198T	probably benign	Het
Olfr1447	C	T	19: 12,901,641	M46I	probably benign	Het
Olfr635	A	G	7: 103,979,338	T49A	probably benign	Het
Pcnx2	T	C	8: 125,891,120	E132G	probably damaging	Het
Pkdcc	A	G	17: 83,222,238		probably benign	Het
Prdm2	T	A	4: 143,135,206	I505F	probably damaging	Het
Psmc3	C	G	2: 91,056,001	Q169E	probably damaging	Het
Ptger4	A	T	15: 5,235,173	I334N	probably benign	Het
Ptrh1	T	C	2: 32,777,171	M161T	probably benign	Het
Rapgef6	T	A	11: 54,642,756	V482D	possibly damaging	Het
Rdh16f2	T	C	10: 127,875,077	S188P	probably damaging	Het
Selp	G	T	1: 164,143,954	W659L	probably benign	Het
Selp	G	T	1: 164,143,955	W659C	probably damaging	Het
Shh	A	G	5: 28,466,742	C8R	probably benign	Het
Spdye4b	C	A	5: 143,202,093	S167R	possibly damaging	Het
Strip1	T	C	3: 107,628,221	Y62C	possibly damaging	Het
Sucla2	A	T	14: 73,581,709	I232F	probably benign	Het
Sugp1	A	G	8: 70,069,524	D437G	possibly damaging	Het
Taf1a	A	G	1: 183,396,084		probably benign	Het
Tbc1d20	T	A	2: 152,311,363	M271K	probably damaging	Het
Tecpr2	T	C	12: 110,933,318	S707P	probably benign	Het
Tert	G	A	13: 73,647,985	R1017H	probably benign	Het
Tox	C	G	4: 6,688,886	V493L	probably damaging	Het
Tpo	C	T	12: 30,103,969	A246T	probably benign	Het
Traf7	A	T	17: 24,511,639	V358D	probably damaging	Het
Trim56	C	T	5: 137,112,674	V663M	possibly damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Usf3	C	T	16: 44,220,682	H1842Y	probably damaging	Het
Uvrag	T	C	7: 98,888,461	E509G	probably benign	Het
Vmn2r5	T	C	3: 64,503,971	D305G	possibly damaging	Het
Vmn2r52	T	C	7: 10,169,131	R457G	probably damaging	Het
Vti1a	A	C	19: 55,380,979	N101T	possibly damaging	Het
Zfp236	A	G	18: 82,668,637	F259L	probably benign	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
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
R5270:Rrh	UTSW	3	129813349	missense	probably benign	0.05
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

Predicted Primers

PCR Primer
(F):5'- TAACCACGATGCACACTCTG -3'
(R):5'- TTCTTTGAGGTCTACAAGCGG -3'

Sequencing Primer
(F):5'- GCACACTCTGCTCATGAATTTAAGG -3'
(R):5'- TCTTTGAGGTCTACAAGCGGAAATG -3'

Posted On

2014-12-04