Incidental Mutation 'R5270:Rrh'
ID 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
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5270 (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 129606998 bp (GRCm39)
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]
AlphaFold O35214
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

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: I100V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: I100V

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: 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

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 benign
Transcript: ENSMUST00000197535
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 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,282,650 (GRCm39) V585A possibly damaging Het
Adam6a A T 12: 113,507,747 (GRCm39) H40L possibly damaging Het
Adamts20 G A 15: 94,180,400 (GRCm39) P1752S probably benign Het
Atp5if1 A G 4: 132,260,611 (GRCm39) F27L probably damaging Het
B230104I21Rik A G 4: 154,434,050 (GRCm39) probably benign Het
Ciz1 C A 2: 32,264,511 (GRCm39) probably null Het
Crb1 T A 1: 139,164,602 (GRCm39) Y1174F probably damaging Het
Csf2rb2 A T 15: 78,176,182 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,918,312 (GRCm39) M433K probably benign Het
Dock4 A G 12: 40,783,270 (GRCm39) I735V probably benign Het
Dpp6 C T 5: 27,839,532 (GRCm39) S349L probably damaging Het
Epg5 T A 18: 78,026,778 (GRCm39) N1256K possibly damaging Het
Epha4 A G 1: 77,483,244 (GRCm39) V255A probably damaging Het
Gabrb1 A T 5: 72,265,669 (GRCm39) D155V probably damaging Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Hcrt T C 11: 100,652,823 (GRCm39) T64A probably damaging Het
Henmt1 G A 3: 108,867,530 (GRCm39) R355H probably benign Het
Hrh1 C A 6: 114,458,179 (GRCm39) R487S possibly damaging Het
Ints2 T C 11: 86,106,621 (GRCm39) S930G probably damaging Het
Irs2 G A 8: 11,056,678 (GRCm39) Q585* probably null Het
Kcns1 C A 2: 164,010,249 (GRCm39) R170L probably benign Het
Kdm3b T C 18: 34,960,467 (GRCm39) S1351P probably damaging Het
Ly9 T C 1: 171,428,730 (GRCm39) T297A probably damaging Het
M6pr G A 6: 122,292,048 (GRCm39) D127N possibly damaging Het
Macir T C 1: 97,573,720 (GRCm39) Q115R probably damaging Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Nit2 G A 16: 56,977,494 (GRCm39) P179S probably damaging Het
Per1 T C 11: 68,994,424 (GRCm39) M516T probably benign Het
Pkdrej A T 15: 85,702,528 (GRCm39) I1136N probably damaging Het
Pramel27 A G 4: 143,578,468 (GRCm39) M243V probably damaging Het
Prdm9 G T 17: 15,773,625 (GRCm39) T257K probably benign Het
Prkdc T C 16: 15,552,819 (GRCm39) L2085P probably damaging Het
Rasgrf1 A C 9: 89,908,747 (GRCm39) E1240D probably benign Het
Saal1 G T 7: 46,351,157 (GRCm39) probably benign Het
Sdcbp2 A G 2: 151,426,812 (GRCm39) I70V probably benign Het
Skida1 C A 2: 18,052,460 (GRCm39) A231S probably benign Het
Smtnl2 T A 11: 72,290,743 (GRCm39) T401S probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spag4 G T 2: 155,907,853 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,283 (GRCm39) M179V probably benign Het
Tm9sf1 G T 14: 55,873,938 (GRCm39) T520N probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Vmn1r47 A T 6: 89,999,525 (GRCm39) Q219L probably damaging Het
Vmn2r104 A T 17: 20,258,528 (GRCm39) C539S probably damaging Het
Wdr17 G T 8: 55,096,221 (GRCm39) S1024R probably benign Het
Zc3h4 A G 7: 16,168,440 (GRCm39) T850A unknown Het
Zfa-ps A G 10: 52,419,552 (GRCm39) noncoding transcript Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Zfp353-ps G T 8: 42,534,572 (GRCm39) noncoding transcript Het
Zfp607a A T 7: 27,577,730 (GRCm39) K267* probably null 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
R5221:Rrh UTSW 3 129,609,280 (GRCm39) missense probably damaging 0.99
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'- TGTACTTTAAGACAAATGCGTGTT -3'
(R):5'- TGTGTGAAAAGTATTCTAACAATGAGG -3'

Sequencing Primer
(F):5'- ACAAATGCGTGTTGAATGACTG -3'
(R):5'- CTCAGTGGGTAAAAATGCTTGC -3'
Posted On 2017-04-07