Incidental Mutation 'R8400:Olfr1295'
ID 647800
Institutional Source Beutler Lab
Gene Symbol Olfr1295
Ensembl Gene ENSMUSG00000108919
Gene Name olfactory receptor 1295
Synonyms GA_x6K02T2Q125-72616944-72616006, MOR248-10
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8400 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 111561423-111569681 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111565402 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 14 (L14H)
Ref Sequence ENSEMBL: ENSMUSP00000146618 (fasta)
AlphaFold Q8VF48
Predicted Effect probably damaging
Transcript: ENSMUST00000207283
AA Change: L14H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207786
AA Change: L14H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217772
AA Change: L14H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,293,925 M1929I probably benign Het
Abca13 T C 11: 9,298,218 I2655T probably damaging Het
Acad10 A G 5: 121,626,205 V887A possibly damaging Het
Acot10 T C 15: 20,666,172 E161G possibly damaging Het
Astn1 C T 1: 158,657,100 P919L probably benign Het
Atp1a4 T A 1: 172,234,494 D688V probably damaging Het
C4bp C A 1: 130,636,747 C400F probably damaging Het
Col6a6 A C 9: 105,774,796 D1005E probably damaging Het
Csnk1g3 C T 18: 53,953,288 R422C probably benign Het
Cutc T C 19: 43,753,205 S15P probably benign Het
Dgkb T C 12: 38,602,838 probably null Het
Disc1 T C 8: 125,232,993 V748A probably benign Het
Dmbt1 C G 7: 131,082,587 D778E unknown Het
Dmxl2 T C 9: 54,383,753 Y2471C probably benign Het
Fam185a T A 5: 21,438,816 N243K probably benign Het
Fchsd2 A T 7: 101,253,573 Q386L possibly damaging Het
Gm904 C A 13: 50,643,417 P49Q probably damaging Het
H2-Q10 C T 17: 35,470,477 R59C probably damaging Het
Ier5l A G 2: 30,473,093 Y307H possibly damaging Het
Kmt2e C A 5: 23,497,092 T906K probably benign Het
Kndc1 C T 7: 139,913,518 R467W probably damaging Het
Muc5ac C A 7: 141,810,476 T2508K probably damaging Het
Nlrp9a A T 7: 26,565,006 M784L probably benign Het
Nlrp9b T A 7: 20,024,012 C391* probably null Het
Nubp2 A C 17: 24,884,465 M146R probably damaging Het
Olfr1359 G A 13: 21,703,915 V305M probably benign Het
Olfr1419 T A 19: 11,871,214 M1L probably damaging Het
Olfr43 C T 11: 74,206,395 V274M possibly damaging Het
Olfr694 T A 7: 106,689,669 S21C probably benign Het
Olfr857 A T 9: 19,713,093 N89Y probably benign Het
Otud1 T C 2: 19,658,378 V106A possibly damaging Het
Pcdhac1 T A 18: 37,092,400 Y755* probably null Het
Pkd1l3 C T 8: 109,623,888 P455L possibly damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,283,572 probably benign Het
Samhd1 T C 2: 157,099,433 E648G probably benign Het
Smarca5 T C 8: 80,709,127 T794A probably benign Het
Spc24 A T 9: 21,757,730 L87H probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 probably null Het
Stra6l G A 4: 45,864,905 R77Q probably damaging Het
Tdrd1 G A 19: 56,848,649 V472M probably benign Het
Tsc2 A T 17: 24,604,987 I948K possibly damaging Het
Ttc39d T C 17: 80,216,005 V31A probably benign Het
Vmn1r158 A T 7: 22,789,880 C301* probably null Het
Vmn2r22 A T 6: 123,637,527 L368* probably null Het
Vmn2r79 A G 7: 87,002,100 T236A probably benign Het
Vwa1 T C 4: 155,772,768 H191R probably benign Het
Zdbf2 T A 1: 63,304,976 V838E possibly damaging Het
Other mutations in Olfr1295
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Olfr1295 APN 2 111564907 missense probably damaging 1.00
IGL02426:Olfr1295 APN 2 111564538 missense probably benign
IGL02638:Olfr1295 APN 2 111564904 missense probably damaging 1.00
IGL02743:Olfr1295 APN 2 111564543 missense possibly damaging 0.95
IGL03161:Olfr1295 APN 2 111565331 missense possibly damaging 0.78
G1patch:Olfr1295 UTSW 2 111564907 missense probably damaging 1.00
PIT4377001:Olfr1295 UTSW 2 111565211 missense probably damaging 0.98
R0448:Olfr1295 UTSW 2 111565214 missense probably benign 0.42
R1634:Olfr1295 UTSW 2 111565346 missense probably benign 0.00
R2065:Olfr1295 UTSW 2 111564712 missense probably damaging 0.99
R5308:Olfr1295 UTSW 2 111564554 missense probably damaging 0.99
R5534:Olfr1295 UTSW 2 111565004 missense probably benign 0.00
R5990:Olfr1295 UTSW 2 111564674 missense probably damaging 0.99
R6725:Olfr1295 UTSW 2 111564907 missense probably damaging 1.00
R7492:Olfr1295 UTSW 2 111564821 missense probably benign 0.00
R8116:Olfr1295 UTSW 2 111565438 missense probably benign 0.01
R8493:Olfr1295 UTSW 2 111564979 missense probably damaging 1.00
R9636:Olfr1295 UTSW 2 111565441 start codon destroyed probably null 1.00
R9736:Olfr1295 UTSW 2 111565281 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CATATCAACAAAGGACAAGTTGGC -3'
(R):5'- TGAACTTTACCTGGGGAAACAATG -3'

Sequencing Primer
(F):5'- TTGGCCAACAAGAAGTACATGG -3'
(R):5'- CTTTACCTGGGGAAACAATGTCACTC -3'
Posted On 2020-09-02