Incidental Mutation 'R5265:Or5h19'
ID 401678
Institutional Source Beutler Lab
Gene Symbol Or5h19
Ensembl Gene ENSMUSG00000043357
Gene Name olfactory receptor family 5 subfamily H member 19
Synonyms Olfr187, GA_x54KRFPKG5P-55265713-55264787, MOR183-8
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58856143-58860112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58856506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 198 (V198D)
Ref Sequence ENSEMBL: ENSMUSP00000147035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206428] [ENSMUST00000207673]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000054385
AA Change: V198D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052477
Gene: ENSMUSG00000043357
AA Change: V198D

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2e-50 PFAM
Pfam:7tm_1 40 289 8.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206408
Predicted Effect possibly damaging
Transcript: ENSMUST00000206428
AA Change: V198D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207673
AA Change: V198D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.3588 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging Het
Other mutations in Or5h19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Or5h19 APN 16 58,856,269 (GRCm39) missense probably damaging 1.00
R0218:Or5h19 UTSW 16 58,856,456 (GRCm39) missense probably benign 0.00
R1023:Or5h19 UTSW 16 58,856,178 (GRCm39) missense probably benign 0.00
R1086:Or5h19 UTSW 16 58,856,626 (GRCm39) missense probably damaging 1.00
R1472:Or5h19 UTSW 16 58,856,920 (GRCm39) missense probably damaging 1.00
R4710:Or5h19 UTSW 16 58,856,638 (GRCm39) missense possibly damaging 0.94
R4738:Or5h19 UTSW 16 58,856,558 (GRCm39) missense probably benign 0.00
R6053:Or5h19 UTSW 16 58,856,351 (GRCm39) missense probably damaging 1.00
R6704:Or5h19 UTSW 16 58,856,225 (GRCm39) missense probably damaging 1.00
R6854:Or5h19 UTSW 16 58,856,428 (GRCm39) missense possibly damaging 0.75
R7178:Or5h19 UTSW 16 58,856,296 (GRCm39) missense probably benign 0.06
R7198:Or5h19 UTSW 16 58,856,456 (GRCm39) missense probably benign 0.00
R7404:Or5h19 UTSW 16 58,856,603 (GRCm39) missense possibly damaging 0.81
R7462:Or5h19 UTSW 16 58,856,379 (GRCm39) nonsense probably null
R7938:Or5h19 UTSW 16 58,856,325 (GRCm39) nonsense probably null
R8785:Or5h19 UTSW 16 58,856,530 (GRCm39) missense probably damaging 1.00
R8790:Or5h19 UTSW 16 58,856,580 (GRCm39) missense possibly damaging 0.96
R8912:Or5h19 UTSW 16 58,856,263 (GRCm39) missense probably benign 0.21
R9198:Or5h19 UTSW 16 58,856,263 (GRCm39) missense probably benign 0.21
R9234:Or5h19 UTSW 16 58,856,789 (GRCm39) missense probably benign 0.05
R9368:Or5h19 UTSW 16 58,856,678 (GRCm39) missense probably benign 0.04
R9568:Or5h19 UTSW 16 58,856,213 (GRCm39) missense probably damaging 1.00
R9679:Or5h19 UTSW 16 58,856,521 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTTCTGAAGATGCAGGGTGC -3'
(R):5'- CTACCCAGTAGTTATGACCAATGG -3'

Sequencing Primer
(F):5'- GCAGGGTGCACATACATGAAG -3'
(R):5'- CAATGGTCTGTGTGTGTGGCTAATAG -3'
Posted On 2016-07-06