Incidental Mutation 'R7305:Olfr1250'
ID567211
Institutional Source Beutler Lab
Gene Symbol Olfr1250
Ensembl Gene ENSMUSG00000075078
Gene Nameolfactory receptor 1250
SynonymsGA_x6K02T2Q125-51098877-51097933, MOR231-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R7305 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location89653773-89661467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89656502 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 313 (H313L)
Ref Sequence ENSEMBL: ENSMUSP00000107152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099768] [ENSMUST00000111527] [ENSMUST00000215730]
Predicted Effect probably benign
Transcript: ENSMUST00000099768
AA Change: H313L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097356
Gene: ENSMUSG00000075078
AA Change: H313L

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.1e-28 PFAM
Pfam:7tm_4 137 278 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111527
AA Change: H313L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107152
Gene: ENSMUSG00000075078
AA Change: H313L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.2e-50 PFAM
Pfam:7tm_1 39 285 8.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215730
AA Change: H313L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A T 10: 82,285,119 I4019K probably benign Het
9130011E15Rik A T 19: 45,892,121 M508K probably benign Het
Abhd16b A T 2: 181,493,416 D37V possibly damaging Het
Ankhd1 A G 18: 36,632,205 D87G Het
Ankrd31 A G 13: 96,878,971 S1583G probably damaging Het
Ankub1 T C 3: 57,692,517 probably benign Het
Apba3 A G 10: 81,271,233 D264G probably damaging Het
Asap1 G A 15: 64,130,250 T404M probably damaging Het
Cnot3 A T 7: 3,645,480 probably benign Het
Cxxc1 A G 18: 74,219,396 Y349C probably benign Het
Cyfip1 AGTGT AGT 7: 55,928,189 probably null Het
Cyp3a57 A G 5: 145,370,985 I184V probably benign Het
D130052B06Rik GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG GTCTACACTGTCCTG 11: 33,623,355 probably null Het
Dab1 T A 4: 104,713,790 D210E Het
Elavl1 G A 8: 4,325,199 probably benign Het
Emilin1 C T 5: 30,917,089 Q225* probably null Het
Eml6 G T 11: 29,777,258 A1288E probably benign Het
Eno1 T C 4: 150,245,339 probably null Het
Eprs C T 1: 185,379,701 R303C probably damaging Het
Eps15l1 G A 8: 72,373,034 A651V probably benign Het
Etl4 A T 2: 20,709,557 I156F probably damaging Het
Faim2 A T 15: 99,513,933 I171N probably damaging Het
Fam105a A G 15: 27,658,233 C184R probably benign Het
Fam135a T A 1: 24,030,858 N381I probably damaging Het
Fam160a1 G T 3: 85,730,524 P156Q probably damaging Het
Fam71d A G 12: 78,715,035 K158E possibly damaging Het
Gabrg3 T A 7: 56,735,085 M243L probably benign Het
Gm5134 A G 10: 76,000,399 I405V probably damaging Het
Gm6614 G A 6: 141,992,494 A253V probably damaging Het
Gm9376 A T 14: 118,267,356 K67* probably null Het
Grm8 A T 6: 27,761,355 I290K possibly damaging Het
Hao1 T A 2: 134,548,201 M73L probably benign Het
Herc1 A G 9: 66,461,868 D452G Het
Idh3b C A 2: 130,281,493 K192N possibly damaging Het
Igkv6-23 A G 6: 70,260,569 S63P probably benign Het
Itgb2 A C 10: 77,548,564 D173A probably damaging Het
Jmjd8 A T 17: 25,830,327 T255S probably benign Het
Lamc3 A C 2: 31,930,702 E1243A probably benign Het
Map1a A G 2: 121,299,458 T252A probably damaging Het
Mrgpra1 C A 7: 47,335,455 A159S probably benign Het
Ndst3 T C 3: 123,601,482 I500V possibly damaging Het
Nhsl1 A G 10: 18,531,686 T1523A possibly damaging Het
Nr2f1 A G 13: 78,195,179 I322T probably damaging Het
Nup210 T C 6: 91,087,966 E184G probably damaging Het
Obsl1 C T 1: 75,493,946 W1022* probably null Het
Olfr166 T A 16: 19,487,699 I287N probably damaging Het
Olfr470 A T 7: 107,845,365 Y123N probably damaging Het
Olfr551 G T 7: 102,587,955 Q263K possibly damaging Het
Olfr802 A T 10: 129,682,280 I153N probably damaging Het
Olfr808 T A 10: 129,767,851 Y118* probably null Het
Oxr1 C T 15: 41,813,608 P187L not run Het
Parp8 A G 13: 116,894,925 L417P possibly damaging Het
Pdia6 A G 12: 17,274,508 Q120R probably benign Het
Ppp3cc T C 14: 70,240,803 N290S probably benign Het
Prdm5 C A 6: 65,831,260 S63R possibly damaging Het
Prr14l T C 5: 32,831,101 D350G probably benign Het
Pwwp2a T C 11: 43,717,051 L497S probably damaging Het
R3hdm2 A G 10: 127,476,678 N430D probably benign Het
Rad51ap2 A G 12: 11,457,343 N422S possibly damaging Het
Rbbp8 G A 18: 11,672,581 probably null Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,579,918 probably benign Het
Slc22a6 G A 19: 8,622,158 probably null Het
Slc28a3 T A 13: 58,566,231 E440V possibly damaging Het
Slc30a5 A T 13: 100,811,424 I482K probably damaging Het
Slco1a1 A T 6: 141,924,497 F305Y probably damaging Het
Slco4c1 T C 1: 96,828,965 N544S probably damaging Het
Smpd4 T A 16: 17,641,783 I656N probably damaging Het
Taok1 A T 11: 77,541,674 L771* probably null Het
Tmem231 T C 8: 111,915,295 D209G possibly damaging Het
Tmem25 A G 9: 44,795,408 probably null Het
Tmem79 T C 3: 88,333,411 T77A probably benign Het
Topbp1 A T 9: 103,328,637 T825S probably damaging Het
Trpm6 A T 19: 18,876,091 Q1825L probably benign Het
Uba1y T A Y: 821,348 D110E probably damaging Het
Utrn A T 10: 12,385,536 N3422K probably benign Het
Vmn1r219 A T 13: 23,163,144 M168L probably benign Het
Vmn2r62 T C 7: 42,764,811 H736R possibly damaging Het
Wdr1 T C 5: 38,540,092 H291R possibly damaging Het
Zan T C 5: 137,415,139 T3177A unknown Het
Zbtb21 T C 16: 97,951,295 H596R possibly damaging Het
Other mutations in Olfr1250
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Olfr1250 APN 2 89657076 missense probably damaging 0.98
IGL01608:Olfr1250 APN 2 89656491 utr 3 prime probably benign
IGL01913:Olfr1250 APN 2 89657340 missense probably benign 0.01
IGL02458:Olfr1250 APN 2 89657348 missense probably damaging 1.00
R0102:Olfr1250 UTSW 2 89656655 missense probably benign 0.10
R0621:Olfr1250 UTSW 2 89657115 nonsense probably null
R0826:Olfr1250 UTSW 2 89656837 missense possibly damaging 0.49
R5460:Olfr1250 UTSW 2 89657070 missense probably damaging 1.00
R5720:Olfr1250 UTSW 2 89656955 missense probably benign 0.20
R6044:Olfr1250 UTSW 2 89657172 missense probably damaging 1.00
R6965:Olfr1250 UTSW 2 89656665 missense probably damaging 1.00
R7069:Olfr1250 UTSW 2 89656566 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATCAACTTTTGTAGCAAGAGAC -3'
(R):5'- TGCAGCTCCCACATCATG -3'

Sequencing Primer
(F):5'- CAAAACCAGAAGTGTAGTGAGTACC -3'
(R):5'- CACATCATGGTGGTTGTTCTC -3'
Posted On2019-06-26