Incidental Mutation 'R4416:Rho'
ID 326838
Institutional Source Beutler Lab
Gene Symbol Rho
Ensembl Gene ENSMUSG00000030324
Gene Name rhodopsin
Synonyms opsin 2, Noerg1, Rod Opsin, Long Wavelength Sensitive opsin, LWS opsin, L opsin, Red Opsin, Ops, RP4, Opn2
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R4416 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 115908709-115916997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115912191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 76 (V76I)
Ref Sequence ENSEMBL: ENSMUSP00000144768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032471] [ENSMUST00000203877] [ENSMUST00000204493] [ENSMUST00000204711]
AlphaFold P15409
Predicted Effect probably benign
Transcript: ENSMUST00000032471
AA Change: V218I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
AA Change: V218I

Pfam:Rhodopsin_N 2 37 1e-23 PFAM
Pfam:7TM_GPCR_Srv 40 323 1.2e-12 PFAM
Pfam:7TM_GPCR_Srw 42 324 7.9e-12 PFAM
Pfam:7TM_GPCR_Srsx 48 321 4.9e-11 PFAM
Pfam:7tm_1 54 306 5.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203531
Predicted Effect probably benign
Transcript: ENSMUST00000203877
AA Change: V59I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324
AA Change: V59I

Pfam:7tm_1 6 147 1.6e-17 PFAM
Pfam:7TM_GPCR_Srw 19 165 1.2e-8 PFAM
Pfam:7TM_GPCR_Srsx 25 162 1.2e-4 PFAM
Pfam:7TM_GPCR_Srv 29 164 7.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203894
Predicted Effect probably benign
Transcript: ENSMUST00000204493
SMART Domains Protein: ENSMUSP00000145464
Gene: ENSMUSG00000030324

low complexity region 20 41 N/A INTRINSIC
low complexity region 48 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204711
AA Change: V76I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324
AA Change: V76I

Pfam:7tm_1 1 164 4.1e-24 PFAM
Pfam:7TM_GPCR_Srw 11 182 5.4e-9 PFAM
Pfam:7TM_GPCR_Srv 13 181 1.6e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null homozygotes fail to develop retinal rod outer segments and lose their photoreceptors while heterozygotes exhibit some disorganization of their photoreceptors and a shortening of the outer segments with age. Some point mutants have only light-induced photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A probably benign Het
Other mutations in Rho
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02432:Rho APN 6 115,909,146 (GRCm39) missense probably damaging 0.99
IGL02480:Rho APN 6 115,912,505 (GRCm39) missense probably benign 0.20
IGL02625:Rho APN 6 115,912,158 (GRCm39) missense possibly damaging 0.95
bemr3 UTSW 6 115,912,092 (GRCm39) missense probably damaging 1.00
R0165:Rho UTSW 6 115,909,188 (GRCm39) missense probably damaging 1.00
R1167:Rho UTSW 6 115,912,384 (GRCm39) missense probably damaging 0.98
R1169:Rho UTSW 6 115,909,199 (GRCm39) missense probably damaging 1.00
R1312:Rho UTSW 6 115,912,566 (GRCm39) missense probably damaging 1.00
R2393:Rho UTSW 6 115,912,352 (GRCm39) splice site probably benign
R3895:Rho UTSW 6 115,910,863 (GRCm39) missense probably damaging 1.00
R4414:Rho UTSW 6 115,912,191 (GRCm39) missense probably benign
R5753:Rho UTSW 6 115,912,448 (GRCm39) missense probably damaging 1.00
R6483:Rho UTSW 6 115,909,218 (GRCm39) missense possibly damaging 0.78
R6552:Rho UTSW 6 115,908,709 (GRCm39) splice site probably null
R6719:Rho UTSW 6 115,910,854 (GRCm39) missense possibly damaging 0.58
R7030:Rho UTSW 6 115,912,504 (GRCm39) missense possibly damaging 0.93
R7354:Rho UTSW 6 115,912,464 (GRCm39) nonsense probably null
R7566:Rho UTSW 6 115,909,135 (GRCm39) missense probably damaging 1.00
R7674:Rho UTSW 6 115,909,294 (GRCm39) missense probably damaging 1.00
R7699:Rho UTSW 6 115,912,200 (GRCm39) missense probably damaging 0.98
R7700:Rho UTSW 6 115,912,200 (GRCm39) missense probably damaging 0.98
R8477:Rho UTSW 6 115,912,346 (GRCm39) splice site probably null
R8745:Rho UTSW 6 115,912,483 (GRCm39) missense probably damaging 1.00
R9783:Rho UTSW 6 115,910,920 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07