Incidental Mutation 'R5221:Rrh'
ID 402304
Institutional Source Beutler Lab
Gene Symbol Rrh
Ensembl Gene ENSMUSG00000028012
Gene Name retinal pigment epithelium derived rhodopsin homolog
Synonyms Peropsin
MMRRC Submission 042794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5221 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129598057-129616236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129609280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 69 (S69G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029648] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]
AlphaFold O35214
Predicted Effect probably benign
Transcript: ENSMUST00000029648
AA Change: S76G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: S76G

DomainStartEndE-ValueType
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: S76G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: S76G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000196902
AA Change: S76G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: S76G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000197535
AA Change: S69G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000200079
SMART Domains Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Pfam:7tm_1 30 197 3.1e-22 PFAM
Meta Mutation Damage Score 0.0832 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (53/54)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T C 3: 92,335,815 (GRCm39) I296V probably benign Het
Antkmt T C 17: 26,010,613 (GRCm39) N67S possibly damaging Het
Arhgap26 T A 18: 39,243,525 (GRCm39) Y134* probably null Het
Asap2 A G 12: 21,263,191 (GRCm39) I269V probably benign Het
Bean1 A T 8: 104,941,784 (GRCm39) D34V probably damaging Het
C8a C T 4: 104,703,122 (GRCm39) V312M probably damaging Het
Ccser1 T C 6: 61,289,075 (GRCm39) S413P probably damaging Het
Col4a2 A G 8: 11,498,225 (GRCm39) N1678S probably benign Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Dsg1a T A 18: 20,457,071 (GRCm39) M148K possibly damaging Het
Farp2 T A 1: 93,504,140 (GRCm39) C306S probably damaging Het
Frem2 A G 3: 53,493,032 (GRCm39) V1828A probably damaging Het
Gm6457 T C 18: 14,703,174 (GRCm39) noncoding transcript Het
Gmip T G 8: 70,266,785 (GRCm39) V300G probably damaging Het
Gstp3 A G 19: 4,107,607 (GRCm39) S186P probably damaging Het
Gvin-ps3 G C 7: 105,683,181 (GRCm39) noncoding transcript Het
Kl G T 5: 150,912,616 (GRCm39) L788F probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrp1b A C 2: 41,002,994 (GRCm39) S1932A possibly damaging Het
Lrrc36 A G 8: 106,170,488 (GRCm39) T234A probably damaging Het
Mafa T A 15: 75,618,891 (GRCm39) Q294L possibly damaging Het
Mesp2 C T 7: 79,461,467 (GRCm39) T264I possibly damaging Het
Mindy4 A G 6: 55,201,092 (GRCm39) Y259C probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2d3c A T 7: 106,526,268 (GRCm39) S133T probably benign Het
Or5as1 T C 2: 86,980,825 (GRCm39) Y60C probably damaging Het
Or5m13b A G 2: 85,754,493 (GRCm39) N294D probably damaging Het
Or8b48 A T 9: 38,493,148 (GRCm39) T192S probably damaging Het
Pcm1 T C 8: 41,741,193 (GRCm39) probably null Het
Plxna1 T C 6: 89,297,998 (GRCm39) D1760G probably damaging Het
Polq T A 16: 36,862,540 (GRCm39) D345E probably damaging Het
Ppp1r14a T A 7: 28,988,926 (GRCm39) I56N probably damaging Het
Ppp1r1a G A 15: 103,441,477 (GRCm39) P79S probably damaging Het
Ptprf C T 4: 118,082,305 (GRCm39) R1010H probably benign Het
Rai1 A G 11: 60,081,423 (GRCm39) E1829G probably damaging Het
Rmdn3 A G 2: 118,986,935 (GRCm39) Y31H probably damaging Het
Skint6 A T 4: 112,752,121 (GRCm39) probably null Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Sltm T G 9: 70,486,685 (GRCm39) L450R probably damaging Het
Sufu T C 19: 46,439,404 (GRCm39) probably null Het
Tmem68 T C 4: 3,560,561 (GRCm39) T208A possibly damaging Het
Tnc T A 4: 63,911,534 (GRCm39) R1346* probably null Het
Tpbg T C 9: 85,726,478 (GRCm39) L149P probably damaging Het
Trappc14 C T 5: 138,260,502 (GRCm39) S308N probably benign Het
Ubtf G A 11: 102,198,816 (GRCm39) Q585* probably null Het
Vmn2r68 A T 7: 84,871,085 (GRCm39) C733S probably damaging Het
Vmn2r-ps158 T A 7: 42,672,684 (GRCm39) H106Q probably benign Het
Wscd1 G T 11: 71,659,501 (GRCm39) G194W possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp462 T A 4: 55,016,887 (GRCm39) V870E possibly damaging Het
Other mutations in Rrh
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5270:Rrh UTSW 3 129,606,998 (GRCm39) missense probably benign 0.05
R7036:Rrh UTSW 3 129,609,342 (GRCm39) missense possibly damaging 0.54
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'- TTCCCACAGCAACCAGTGTC -3'
(R):5'- GAGCTTGCTCTCTTTTGAAGC -3'

Sequencing Primer
(F):5'- AGCAACCAGTGTCCCCGTTG -3'
(R):5'- AGCTTGCTCTCTTTTGAAGCAACTTC -3'
Posted On 2016-07-22