Incidental Mutation 'R2913:Rrh'
ID 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
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2913 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129598057-129616236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 129609258 bp (GRCm39)
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]
AlphaFold O35214
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

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 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

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 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

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 unknown
Transcript: ENSMUST00000197535
AA Change: A76E
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 0.6467 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,934,887 (GRCm39) Q357R probably damaging Het
Adap1 C T 5: 139,260,576 (GRCm39) probably null Het
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Aldh3b1 T C 19: 3,971,275 (GRCm39) probably benign Het
Arih2 A G 9: 108,521,275 (GRCm39) S68P probably damaging Het
Cdcp3 T C 7: 130,783,753 (GRCm39) S49P possibly damaging Het
Col1a2 C T 6: 4,519,923 (GRCm39) probably benign Het
Cplane1 T C 15: 8,300,169 (GRCm39) S3159P unknown Het
Crocc C T 4: 140,747,661 (GRCm39) R1496H probably damaging Het
Cryl1 T C 14: 57,513,375 (GRCm39) E282G probably benign Het
Cyp11b1 T C 15: 74,708,270 (GRCm39) T402A probably damaging Het
Etfa C A 9: 55,389,613 (GRCm39) A254S probably damaging Het
Fcgbpl1 A T 7: 27,863,732 (GRCm39) L2501F probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hbb-bh1 C T 7: 103,492,254 (GRCm39) E22K possibly damaging Het
Hmcn2 A G 2: 31,350,222 (GRCm39) T5040A possibly damaging Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Igsf10 T A 3: 59,239,157 (GRCm39) L341F possibly damaging Het
Ints1 A G 5: 139,743,668 (GRCm39) S1592P possibly damaging Het
Itgam T C 7: 127,711,578 (GRCm39) I641T probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mapk3 T A 7: 126,359,978 (GRCm39) C19* probably null Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Med26 T G 8: 73,249,956 (GRCm39) K381T possibly damaging Het
Mki67 T C 7: 135,302,415 (GRCm39) E873G possibly damaging Het
Mrgpra9 T C 7: 46,884,828 (GRCm39) I280V probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Pam A C 1: 97,850,854 (GRCm39) L168R probably damaging Het
Pikfyve G A 1: 65,292,676 (GRCm39) V1376M probably damaging Het
Pomt2 A T 12: 87,175,743 (GRCm39) N400K probably damaging Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rc3h2 A G 2: 37,268,971 (GRCm39) S832P possibly damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Rspo2 T A 15: 42,941,510 (GRCm39) T138S probably benign Het
Skint5 A G 4: 113,381,289 (GRCm39) probably benign Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Spata31d1d T C 13: 59,874,769 (GRCm39) E922G possibly damaging Het
Spc25 T C 2: 69,030,331 (GRCm39) H104R probably benign Het
Sptssa A T 12: 54,703,267 (GRCm39) M1K probably null Het
Srrm2 G T 17: 24,034,658 (GRCm39) probably benign Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmem181c-ps A G 17: 6,888,608 (GRCm39) noncoding transcript Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Trio T A 15: 27,854,998 (GRCm39) Q728L probably damaging Het
Txk T C 5: 72,881,794 (GRCm39) N154S probably damaging Het
Vwf T A 6: 125,662,809 (GRCm39) V2731E probably benign Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign Het
Zgrf1 T C 3: 127,392,356 (GRCm39) V1292A 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
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
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'- TGAGCTTGCTCTCTTTTGAAGC -3'

Sequencing Primer
(F):5'- AGCAACCAGTGTCCCCGTTG -3'
(R):5'- AGTTAAACAGATTGTGTGCTCCTTCC -3'
Posted On 2014-12-29