Incidental Mutation 'R1906:Olfr1219'
ID214345
Institutional Source Beutler Lab
Gene Symbol Olfr1219
Ensembl Gene ENSMUSG00000075104
Gene Nameolfactory receptor 1219
SynonymsMOR233-6, GA_x6K02T2Q125-50555603-50554668
MMRRC Submission 039925-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R1906 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location89072241-89083513 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89075070 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 7 (V7A)
Ref Sequence ENSEMBL: ENSMUSP00000150043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099797] [ENSMUST00000213724] [ENSMUST00000214442] [ENSMUST00000215225] [ENSMUST00000217421]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099797
AA Change: V7A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097385
Gene: ENSMUSG00000075104
AA Change: V7A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3e-46 PFAM
Pfam:7tm_1 39 286 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213724
AA Change: V7A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214442
AA Change: V7A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215225
AA Change: V7A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217421
AA Change: V7A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,985 T923I probably benign Het
Abhd13 T A 8: 9,988,170 C256S probably benign Het
Adamts5 C T 16: 85,868,685 W576* probably null Het
Adnp A T 2: 168,182,367 S1003T probably benign Het
AI987944 C T 7: 41,375,126 R146Q probably benign Het
Apol6 G T 15: 77,050,860 V110F probably damaging Het
Arhgap27 A G 11: 103,332,925 F651L probably damaging Het
Atm T C 9: 53,506,568 D813G probably damaging Het
Casd1 T A 6: 4,641,979 I752N probably damaging Het
Cdr2 A G 7: 120,982,001 Y18H probably damaging Het
Cntn4 T C 6: 106,353,646 F75S probably benign Het
Col20a1 G A 2: 180,998,697 R549H probably benign Het
Col28a1 A T 6: 7,999,644 N1024K probably benign Het
Ddx58 T C 4: 40,206,054 K846R probably benign Het
Dnah10 T A 5: 124,800,984 V2654D probably damaging Het
Dnph1 A T 17: 46,496,861 I18F probably damaging Het
Dsn1 G A 2: 156,996,243 R334W probably damaging Het
Egf T A 3: 129,725,224 K325N probably benign Het
Eps15 T G 4: 109,324,201 S311A possibly damaging Het
Fmo3 G T 1: 162,966,906 D198E probably damaging Het
Folh1 C G 7: 86,742,166 probably null Het
Foxn1 A G 11: 78,371,810 probably null Het
Gm10604 T G 4: 11,979,989 D105A unknown Het
Gpx8 A G 13: 113,045,576 C108R probably damaging Het
Herc2 A T 7: 56,114,864 I1013L probably benign Het
Hyal4 T G 6: 24,756,111 N109K probably damaging Het
Il22ra1 T G 4: 135,751,233 C538W probably damaging Het
Ints13 A T 6: 146,552,370 probably null Het
Krt75 T A 15: 101,573,366 T156S possibly damaging Het
Lama2 A C 10: 27,056,527 probably null Het
Lifr G T 15: 7,188,131 V847L probably damaging Het
Lmf1 T A 17: 25,612,335 I185N probably damaging Het
Mast1 G A 8: 84,916,266 R967C probably damaging Het
Ms4a15 T C 19: 10,983,280 I94V probably benign Het
Mycbpap A T 11: 94,505,621 M131K probably benign Het
Ncor1 A T 11: 62,349,385 M920K possibly damaging Het
Neb A G 2: 52,308,526 Y437H probably damaging Het
Npy5r A T 8: 66,681,473 W223R probably damaging Het
Olfr1333 G A 4: 118,830,270 H56Y probably damaging Het
Olfr248 C A 1: 174,391,164 L32M probably damaging Het
Olfr804 T G 10: 129,705,496 V206G probably benign Het
Polg T C 7: 79,460,322 K353E probably damaging Het
Proz C G 8: 13,073,686 probably null Het
Pus7 T C 5: 23,778,211 D86G probably damaging Het
Rhpn1 T C 15: 75,711,824 V386A probably benign Het
Sptbn4 A G 7: 27,391,431 probably null Het
Srp68 A T 11: 116,250,761 I424N probably damaging Het
Stard9 A G 2: 120,696,427 E1055G probably benign Het
Taf4b A G 18: 14,822,102 I571V probably benign Het
Tas2r107 T C 6: 131,659,988 M33V probably benign Het
Thap12 T C 7: 98,716,740 L705P probably damaging Het
Tom1 T C 8: 75,051,590 V100A probably damaging Het
Tox3 A G 8: 90,248,429 probably benign Het
Vmn2r82 A G 10: 79,396,510 N781S probably damaging Het
Vwa5b1 A T 4: 138,600,236 V343E possibly damaging Het
Zbbx A G 3: 75,071,740 Y467H probably damaging Het
Zbtb46 G A 2: 181,423,839 R173W probably damaging Het
Zfp112 A G 7: 24,122,295 D20G probably benign Het
Zfp777 A C 6: 48,042,061 M313R probably damaging Het
Other mutations in Olfr1219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Olfr1219 APN 2 89074201 missense probably benign 0.04
R0437:Olfr1219 UTSW 2 89074612 missense probably benign 0.00
R0653:Olfr1219 UTSW 2 89074464 missense possibly damaging 0.90
R1637:Olfr1219 UTSW 2 89075052 missense probably damaging 1.00
R1837:Olfr1219 UTSW 2 89074832 nonsense probably null
R2234:Olfr1219 UTSW 2 89074248 missense probably damaging 1.00
R2351:Olfr1219 UTSW 2 89074399 missense possibly damaging 0.74
R2420:Olfr1219 UTSW 2 89074992 missense possibly damaging 0.78
R2421:Olfr1219 UTSW 2 89074992 missense possibly damaging 0.78
R3438:Olfr1219 UTSW 2 89074363 missense probably benign 0.08
R4470:Olfr1219 UTSW 2 89075038 missense probably benign 0.01
R4607:Olfr1219 UTSW 2 89074312 missense probably benign 0.08
R4608:Olfr1219 UTSW 2 89074312 missense probably benign 0.08
R4693:Olfr1219 UTSW 2 89075068 missense possibly damaging 0.69
R5382:Olfr1219 UTSW 2 89074735 missense probably damaging 1.00
R5460:Olfr1219 UTSW 2 89074864 missense probably benign 0.00
R5504:Olfr1219 UTSW 2 89074680 missense probably benign 0.00
R6053:Olfr1219 UTSW 2 89074554 missense probably damaging 1.00
R7057:Olfr1219 UTSW 2 89074464 missense possibly damaging 0.56
R7323:Olfr1219 UTSW 2 89074467 missense probably damaging 0.99
R7606:Olfr1219 UTSW 2 89075297 start gained probably benign
T0722:Olfr1219 UTSW 2 89074959 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GTGACAGTAGAAGAAGTTAATGCATCC -3'
(R):5'- CAGGTTGCACAACTATTGCC -3'

Sequencing Primer
(F):5'- TAGAAGAAGTTAATGCATCCAGTAAG -3'
(R):5'- TGCACAACTATTGCCTTCAAAAATC -3'
Posted On2014-07-14