Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:Rrh'

546669

Institutional Source

Beutler Lab

Gene Symbol

Rrh

Ensembl Gene

ENSMUSG00000028012

Gene Name

retinal pigment epithelium derived rhodopsin homolog

Synonyms

Peropsin

MMRRC Submission

045012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129598057-129616236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129609342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 55 (E55G)

Ref Sequence

ENSEMBL: ENSMUSP00000143093 (fasta)

Gene Model

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

AlphaFold

O35214

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029648
AA Change: E55G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: E55G

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

possibly damaging
Transcript: ENSMUST00000171313
AA Change: E55G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: E55G

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

possibly damaging
Transcript: ENSMUST00000196902
AA Change: E55G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: E55G

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Ahnak2	A	G	12: 112,745,216 (GRCm39)		probably benign	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,740,041 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,082,206 (GRCm39)	E145Q	probably benign	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Arsj	T	C	3: 126,158,649 (GRCm39)	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Bcl6	A	T	16: 23,793,611 (GRCm39)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,668,843 (GRCm39)	T579S	possibly damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,171,722 (GRCm39)	I379V	probably benign	Het
Cndp2	T	A	18: 84,688,070 (GRCm39)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,593,864 (GRCm39)	R254S	probably benign	Het
Dop1b	T	A	16: 93,574,378 (GRCm39)	D30E	probably benign	Het
Duox2	T	G	2: 122,110,934 (GRCm39)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,487,427 (GRCm39)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Emc8	A	T	8: 121,385,790 (GRCm39)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,371,322 (GRCm39)	T720A	probably benign	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Fem1b	T	A	9: 62,704,310 (GRCm39)	I317F	probably damaging	Het
Focad	A	G	4: 88,042,874 (GRCm39)	E36G	probably benign	Het
Fryl	C	T	5: 73,212,951 (GRCm39)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Garin3	G	A	11: 46,298,235 (GRCm39)	S513N		Het
Gatad2a	A	T	8: 70,370,644 (GRCm39)	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 41,041,032 (GRCm39)		probably null	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
Gsn	T	A	2: 35,182,611 (GRCm39)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Ints14	T	C	9: 64,871,827 (GRCm39)	V55A	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Klf1	C	T	8: 85,629,379 (GRCm39)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,683,741 (GRCm39)	E333G	probably null	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,002,354 (GRCm39)	D2001G	possibly damaging	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Lrrc71	T	C	3: 87,655,693 (GRCm39)	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,628,069 (GRCm39)	V958A	possibly damaging	Het
Med15	A	T	16: 17,516,019 (GRCm39)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nat10	T	C	2: 103,584,453 (GRCm39)	N108S	probably benign	Het
Ncald	A	T	15: 37,369,122 (GRCm39)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Or5ak25	A	G	2: 85,268,774 (GRCm39)	S243P	probably damaging	Het
Or5d39	T	A	2: 87,979,469 (GRCm39)	D298V	probably damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,441,835 (GRCm39)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Popdc2	A	T	16: 38,183,173 (GRCm39)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Sds	A	T	5: 120,618,912 (GRCm39)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,405,551 (GRCm39)	P38T	unknown	Het
Tcl1	T	C	12: 105,183,860 (GRCm39)		probably benign	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdr70	T	C	15: 7,913,855 (GRCm39)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,111,856 (GRCm39)	P445L	probably benign	Het

Other mutations in Rrh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Rrh	APN	3	129,616,074 (GRCm39)	missense	possibly damaging	0.53
IGL01368:Rrh	APN	3	129,602,618 (GRCm39)	missense	probably benign	0.02
IGL02206:Rrh	APN	3	129,605,346 (GRCm39)	missense	probably benign	0.40
IGL02577:Rrh	APN	3	129,609,372 (GRCm39)	missense	probably damaging	0.98
B6584:Rrh	UTSW	3	129,605,391 (GRCm39)	missense	probably damaging	1.00
R1822:Rrh	UTSW	3	129,606,282 (GRCm39)	missense	probably damaging	0.99
R2114:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2115:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2116:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2484:Rrh	UTSW	3	129,616,040 (GRCm39)	missense	probably damaging	1.00
R2913:Rrh	UTSW	3	129,609,258 (GRCm39)	missense	probably damaging	0.99
R3236:Rrh	UTSW	3	129,605,360 (GRCm39)	missense	probably damaging	1.00
R3237:Rrh	UTSW	3	129,605,360 (GRCm39)	missense	probably damaging	1.00
R5221:Rrh	UTSW	3	129,609,280 (GRCm39)	missense	probably damaging	0.99
R5270:Rrh	UTSW	3	129,606,998 (GRCm39)	missense	probably benign	0.05
R7334:Rrh	UTSW	3	129,602,631 (GRCm39)	missense	probably benign	0.00
R7339:Rrh	UTSW	3	129,604,262 (GRCm39)	missense	probably damaging	1.00
R7779:Rrh	UTSW	3	129,608,969 (GRCm39)	missense	probably benign	0.02
R9152:Rrh	UTSW	3	129,606,903 (GRCm39)	missense	probably benign	0.05
R9798:Rrh	UTSW	3	129,605,421 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCGTCTTAAAGAATGAATCCC -3'
(R):5'- TCAAACAAGGGGCTAAGCTG -3'

Sequencing Primer
(F):5'- AGCTTTAGGAGATCCACTGC -3'
(R):5'- GAGCTTGCTCTCTTTTGAAGCAAC -3'

Posted On

2019-05-13