Mutagenetix > Incidental Mutations

Incidental Mutation 'R2913:Rrh'

254736

Institutional Source

Beutler Lab

Gene Symbol

Rrh

Ensembl Gene

ENSMUSG00000028012

Gene Name

retinal pigment epithelium derived rhodopsin homolog

Synonyms

Peropsin

MMRRC Submission

040500-MU

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129804408-129822587 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129815609 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 83 (A83E)

Ref Sequence

ENSEMBL: ENSMUSP00000143093 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029648
AA Change: A83E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: A83E

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 damaging
Transcript: ENSMUST00000171313
AA Change: A83E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: A83E

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: A83E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: A83E

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: A76E

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

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,270,685	S3159P	unknown	Het
5430419D17Rik	T	C	7: 131,182,024	S49P	possibly damaging	Het
9530053A07Rik	A	T	7: 28,164,307	L2501F	probably damaging	Het
Acap2	T	C	16: 31,116,069	Q357R	probably damaging	Het
Adap1	C	T	5: 139,274,821		probably null	Het
Adgrf3	A	G	5: 30,196,994	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,921,275		probably benign	Het
Arih2	A	G	9: 108,644,076	S68P	probably damaging	Het
Col1a2	C	T	6: 4,519,923		probably benign	Het
Crocc	C	T	4: 141,020,350	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,275,918	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,836,421	T402A	probably damaging	Het
Etfa	C	A	9: 55,482,329	A254S	probably damaging	Het
Fdxacb1	C	T	9: 50,768,399	A39V	probably benign	Het
Fras1	G	A	5: 96,733,915	R2502K	probably benign	Het
Gpr157	G	A	4: 150,098,765	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,843,047	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,460,210	T5040A	possibly damaging	Het
Hprt	T	C	X: 53,020,139	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,331,736	L341F	possibly damaging	Het
Ints1	A	G	5: 139,757,913	S1592P	possibly damaging	Het
Itgam	T	C	7: 128,112,406	I641T	probably damaging	Het
Macf1	T	A	4: 123,475,911	I121F	probably damaging	Het
Mapk3	T	A	7: 126,760,806	C19*	probably null	Het
Mapk4	C	T	18: 73,935,165	A232T	probably benign	Het
Med26	T	G	8: 72,496,112	K381T	possibly damaging	Het
Mki67	T	C	7: 135,700,686	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 47,235,080	I280V	probably benign	Het
Mroh9	T	C	1: 163,044,003	Y637C	probably damaging	Het
Nktr	T	C	9: 121,749,604		probably benign	Het
Olfr1052	A	G	2: 86,298,389	D191G	probably damaging	Het
Olfr1206	A	T	2: 88,865,114	N170Y	probably benign	Het
Pam	A	C	1: 97,923,129	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,253,517	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,128,969	N400K	probably damaging	Het
Pramef12	T	C	4: 144,392,734	E421G	probably damaging	Het
Rbm45	C	T	2: 76,375,454	P217S	probably benign	Het
Rc3h2	A	G	2: 37,378,959	S832P	possibly damaging	Het
Ric3	A	G	7: 109,054,453	F144L	possibly damaging	Het
Rspo2	T	A	15: 43,078,114	T138S	probably benign	Het
Skint5	A	G	4: 113,524,092		probably benign	Het
Snx29	C	T	16: 11,447,453	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,726,955	E922G	possibly damaging	Het
Spc25	T	C	2: 69,199,987	H104R	probably benign	Het
Sptssa	A	T	12: 54,656,482	M1K	probably null	Het
Srrm2	G	T	17: 23,815,684		probably benign	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,621,209		noncoding transcript	Het
Tmprss15	T	C	16: 78,962,190	N880S	probably benign	Het
Trio	T	A	15: 27,854,912	Q728L	probably damaging	Het
Txk	T	C	5: 72,724,451	N154S	probably damaging	Het
Vwf	T	A	6: 125,685,846	V2731E	probably benign	Het
Yes1	T	C	5: 32,640,582	S82P	probably benign	Het
Zgrf1	T	C	3: 127,598,707	V1292A	possibly damaging	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
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'- TTCCCACAGCAACCAGTGTC -3'
(R):5'- TGAGCTTGCTCTCTTTTGAAGC -3'

Sequencing Primer
(F):5'- AGCAACCAGTGTCCCCGTTG -3'
(R):5'- AGTTAAACAGATTGTGTGCTCCTTCC -3'

Posted On

2014-12-29