Incidental Mutation 'R6991:Olfr1443'
ID 543880
Institutional Source Beutler Lab
Gene Symbol Olfr1443
Ensembl Gene ENSMUSG00000045030
Gene Name olfactory receptor 1443
Synonyms MOR202-8, GA_x6K02T2RE5P-3006492-3007430
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12678112-12683851 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12680748 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 213 (L213F)
Ref Sequence ENSEMBL: ENSMUSP00000150063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]
AlphaFold Q8VFW8
Predicted Effect probably benign
Transcript: ENSMUST00000049724
AA Change: L213F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030
AA Change: L213F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.5e-6 PFAM
Pfam:7tm_1 39 288 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207341
Predicted Effect probably benign
Transcript: ENSMUST00000208494
Predicted Effect probably benign
Transcript: ENSMUST00000208657
Predicted Effect probably benign
Transcript: ENSMUST00000213486
AA Change: L213F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215134
AA Change: L213F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,580,446 V278D probably damaging Het
2410089E03Rik A G 15: 8,252,206 E2843G unknown Het
9930021J03Rik A G 19: 29,719,108 L995S possibly damaging Het
Akap12 G T 10: 4,357,122 E1311* probably null Het
Ankdd1a T A 9: 65,508,675 D186V probably benign Het
Birc6 A G 17: 74,562,095 E346G probably damaging Het
Ccr7 A C 11: 99,145,304 V264G probably damaging Het
Col7a1 T C 9: 108,983,919 probably null Het
Coq8a T C 1: 180,179,068 T132A probably benign Het
Cyp2b10 G A 7: 25,917,355 S407N probably benign Het
Ddi2 A G 4: 141,685,250 V117A probably benign Het
Ddx42 G A 11: 106,239,144 V421I probably damaging Het
Dip2c T A 13: 9,551,860 L285* probably null Het
Dip2c C T 13: 9,634,832 S1232F probably damaging Het
Dner T A 1: 84,476,402 R402* probably null Het
Dpysl3 A T 18: 43,353,891 I317N probably damaging Het
Dusp23 T A 1: 172,631,657 Y146F probably benign Het
Eef1a2 C A 2: 181,148,628 V412L possibly damaging Het
Epha7 C T 4: 28,821,489 T218I probably damaging Het
Gigyf2 T A 1: 87,407,136 C284S probably damaging Het
Gm16427 T A 5: 93,484,374 N107I probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,649,576 probably benign Het
Hao2 T A 3: 98,876,752 E327V probably damaging Het
Hdhd5 A G 6: 120,510,169 V409A probably damaging Het
Kif9 T C 9: 110,494,622 Y236H probably damaging Het
Kri1 T C 9: 21,287,754 probably benign Het
Lig4 A T 8: 9,971,098 V894E probably damaging Het
Lrriq1 T C 10: 103,187,458 N982S probably damaging Het
Mapk8 T C 14: 33,410,884 I32V possibly damaging Het
Mast4 C T 13: 102,804,647 V301I probably damaging Het
Mstn T C 1: 53,061,941 I59T probably benign Het
Mtrf1l T C 10: 5,813,384 E315G probably damaging Het
Notch4 G T 17: 34,584,800 E1515* probably null Het
Npw A C 17: 24,658,055 V124G probably benign Het
Nxph3 A G 11: 95,511,418 S57P probably damaging Het
Olfr1000 T C 2: 85,608,248 I221V possibly damaging Het
Olfr1145 G A 2: 87,810,443 D208N possibly damaging Het
Olfr493 T A 7: 108,346,088 N298Y possibly damaging Het
Olfr677 T C 7: 105,056,564 I106T probably damaging Het
Opn4 A T 14: 34,593,907 L390M probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 probably benign Het
Pla2g2e G A 4: 138,880,675 C62Y probably damaging Het
Plcb4 G A 2: 135,910,194 V107M probably damaging Het
Prorsd1 A C 11: 29,514,486 probably benign Het
Prox2 A G 12: 85,087,391 L587P probably benign Het
Prr22 A G 17: 56,771,345 D166G possibly damaging Het
Ptprz1 G A 6: 23,002,687 R1592Q probably benign Het
Rarg C G 15: 102,241,915 R74P probably damaging Het
Rcan1 A G 16: 92,397,363 V54A probably benign Het
Rmdn2 A G 17: 79,621,310 probably benign Het
Sec16a G A 2: 26,430,486 R1361C probably damaging Het
Serpina1a T C 12: 103,853,833 T385A probably benign Het
Slc44a3 T C 3: 121,532,165 Y12C probably benign Het
Smg1 C A 7: 118,167,868 probably benign Het
Spock3 A G 8: 63,355,381 *437W probably null Het
Sugct T A 13: 17,554,380 Q220H probably benign Het
Tesk1 A G 4: 43,447,006 T465A probably benign Het
Tnks C A 8: 34,834,493 R1274I probably damaging Het
Trp53bp1 C T 2: 121,208,040 R1439H probably damaging Het
Vmn1r16 G T 6: 57,322,884 S251* probably null Het
Vmn2r15 T A 5: 109,293,314 Q226L probably damaging Het
Vmn2r67 T G 7: 85,155,745 Y53S possibly damaging Het
Vmn2r99 A G 17: 19,378,110 N132S probably benign Het
Wdr73 T G 7: 80,891,856 T313P probably benign Het
Zfp65 C T 13: 67,708,521 R213Q probably damaging Het
Other mutations in Olfr1443
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Olfr1443 APN 19 12680749 missense probably benign 0.02
IGL01392:Olfr1443 APN 19 12680803 missense probably benign 0.42
IGL01470:Olfr1443 APN 19 12680671 missense possibly damaging 0.91
IGL03106:Olfr1443 APN 19 12680923 missense possibly damaging 0.61
R2036:Olfr1443 UTSW 19 12680801 missense probably damaging 1.00
R3942:Olfr1443 UTSW 19 12680404 missense probably benign 0.03
R5459:Olfr1443 UTSW 19 12680435 missense probably damaging 1.00
R5643:Olfr1443 UTSW 19 12680972 missense probably damaging 1.00
R5644:Olfr1443 UTSW 19 12680972 missense probably damaging 1.00
R6879:Olfr1443 UTSW 19 12680771 missense probably benign 0.18
R7084:Olfr1443 UTSW 19 12680834 missense probably damaging 0.98
R7352:Olfr1443 UTSW 19 12680751 missense possibly damaging 0.78
R7749:Olfr1443 UTSW 19 12680212 missense probably benign 0.10
R8133:Olfr1443 UTSW 19 12680480 missense probably damaging 1.00
R8163:Olfr1443 UTSW 19 12680188 missense probably benign 0.01
R8941:Olfr1443 UTSW 19 12680107 start gained probably benign
R9109:Olfr1443 UTSW 19 12680826 nonsense probably null
R9176:Olfr1443 UTSW 19 12680236 missense probably benign 0.14
R9298:Olfr1443 UTSW 19 12680826 nonsense probably null
R9414:Olfr1443 UTSW 19 12680348 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTGCATGTCTGACCATGG -3'
(R):5'- CACGATTTTGTCAGTGTCCATGG -3'

Sequencing Primer
(F):5'- GAATTCCTCTATCCATACTGGGGAC -3'
(R):5'- CATGGAGTGGCTGGAGC -3'
Posted On 2019-05-13