Incidental Mutation 'IGL01368:Rrh'
ID76027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrh
Ensembl Gene ENSMUSG00000028012
Gene Nameretinal pigment epithelium derived rhodopsin homolog
SynonymsPeropsin
Accession Numbers

Genbank: NM_009102.3; Ensembl: ENSMUST00000029648, ENSMUST00000078035 ,ENSMUST00000090295, ENSMUST00000171313

Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL01368
Quality Score
Status
Chromosome3
Chromosomal Location129804408-129822587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129808969 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 229 (D229G)
Ref Sequence ENSEMBL: ENSMUSP00000143054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029648] [ENSMUST00000171313] [ENSMUST00000179187] [ENSMUST00000185462] [ENSMUST00000196902] [ENSMUST00000200079]
Predicted Effect probably benign
Transcript: ENSMUST00000029648
AA Change: D368G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: D368G

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: D326G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: D326G

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 probably benign
Transcript: ENSMUST00000179187
SMART Domains Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 20 61 2.7e-1 SMART
LRR 80 103 6.96e0 SMART
LRR 104 127 3.27e1 SMART
LRR_TYP 128 151 4.47e-3 SMART
LRR_TYP 152 175 7.37e-4 SMART
LRRCT 201 252 4.65e-2 SMART
Blast:IG 260 297 9e-13 BLAST
low complexity region 298 311 N/A INTRINSIC
FN3 364 443 1.85e0 SMART
transmembrane domain 462 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185462
SMART Domains Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 20 61 1.3e-3 SMART
LRR 80 103 2.9e-2 SMART
LRR 104 127 1.4e-1 SMART
LRR_TYP 128 151 1.9e-5 SMART
LRR_TYP 152 175 3.2e-6 SMART
LRRCT 201 252 2.3e-4 SMART
IGc2 266 335 4.7e-11 SMART
low complexity region 340 352 N/A INTRINSIC
low complexity region 362 376 N/A INTRINSIC
low complexity region 408 432 N/A INTRINSIC
FN3 485 564 9e-3 SMART
transmembrane domain 583 605 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196317
Predicted Effect probably benign
Transcript: ENSMUST00000196902
AA Change: D326G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: D326G

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: ENSMUST00000197535
Predicted Effect probably benign
Transcript: ENSMUST00000200079
AA Change: D229G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
AA Change: D229G

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Pfam:7tm_1 30 197 3.1e-22 PFAM
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Rrh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Rrh APN 3 129822425 missense possibly damaging 0.53
IGL02206:Rrh APN 3 129811697 missense probably benign 0.40
IGL02577:Rrh APN 3 129815723 missense probably damaging 0.98
B6584:Rrh UTSW 3 129811742 missense probably damaging 1.00
R1822:Rrh UTSW 3 129812633 missense probably damaging 0.99
R2114:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2115:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2116:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2484:Rrh UTSW 3 129822391 missense probably damaging 1.00
R2913:Rrh UTSW 3 129815609 missense probably damaging 0.99
R3236:Rrh UTSW 3 129811711 missense probably damaging 1.00
R3237:Rrh UTSW 3 129811711 missense probably damaging 1.00
R5221:Rrh UTSW 3 129815631 missense probably damaging 0.99
R5270:Rrh UTSW 3 129813349 missense probably benign 0.05
R7036:Rrh UTSW 3 129815693 missense possibly damaging 0.54
R7334:Rrh UTSW 3 129808982 missense probably benign 0.00
R7339:Rrh UTSW 3 129810613 missense probably damaging 1.00
R7779:Rrh UTSW 3 129815320 missense probably benign 0.02
Posted On2013-10-07