Incidental Mutation 'R9322:Olfr748'
ID 706282
Institutional Source Beutler Lab
Gene Symbol Olfr748
Ensembl Gene ENSMUSG00000060084
Gene Name olfactory receptor 748
Synonyms GA_x6K02T2PMLR-6454789-6455712, MOR106-9P
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 50707373-50713797 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50711050 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 240 (T240N)
Ref Sequence ENSEMBL: ENSMUSP00000149491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073561] [ENSMUST00000213101]
AlphaFold E9Q9Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000073561
AA Change: T240N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: T240N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.6e-52 PFAM
Pfam:7tm_1 41 290 2.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213101
AA Change: T240N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,301,505 V727A probably damaging Het
Arhgef33 T A 17: 80,370,389 L455* probably null Het
Arnt T C 3: 95,490,618 S591P probably benign Het
Asic4 A G 1: 75,469,818 M335V probably benign Het
Atp1a2 A G 1: 172,280,058 S665P possibly damaging Het
Cat T C 2: 103,472,988 N148S probably damaging Het
Ccdc9 T C 7: 16,278,435 D274G probably damaging Het
Csnk1g2 T C 10: 80,639,144 Y332H probably damaging Het
Csrnp1 T C 9: 119,972,787 E402G probably damaging Het
Dchs2 T A 3: 83,281,694 I1455N possibly damaging Het
Dnah12 A T 14: 26,770,977 I1232F possibly damaging Het
Dsn1 C T 2: 157,001,749 V144I possibly damaging Het
Epha6 A T 16: 60,424,755 S360R probably damaging Het
Fasl A T 1: 161,781,943 L158Q probably damaging Het
Filip1 A T 9: 79,819,732 V535E probably benign Het
Fmo5 A T 3: 97,638,874 K168* probably null Het
Gm11639 A T 11: 104,874,373 E2501V probably benign Het
Gm5157 T G 7: 21,185,506 K37N probably benign Het
Gm6583 T A 5: 112,355,406 Y144F probably damaging Het
Grm8 T A 6: 27,363,729 I596F possibly damaging Het
Il23a T C 10: 128,297,121 E123G probably benign Het
Itpr2 T C 6: 146,325,089 T1386A probably benign Het
Krt79 T A 15: 101,931,810 Q317L possibly damaging Het
Lhx4 A G 1: 155,702,607 I263T probably benign Het
Med4 T C 14: 73,510,161 L34P probably damaging Het
Mid1 C G X: 169,985,007 P384A probably benign Het
Mief2 A T 11: 60,731,018 H138L possibly damaging Het
Narfl G C 17: 25,779,574 Q217H probably damaging Het
Nat3 A T 8: 67,547,510 K14* probably null Het
Nbeal1 T A 1: 60,258,659 I1216N possibly damaging Het
Nlrp1b T C 11: 71,217,292 E461G probably benign Het
Olfr259 T C 2: 87,108,217 T57A probably damaging Het
Olfr481 C T 7: 108,081,520 T242M probably damaging Het
Pdha2 C A 3: 141,210,789 M319I probably benign Het
Pik3r2 A G 8: 70,774,850 V43A possibly damaging Het
Psd T A 19: 46,313,441 E902V probably damaging Het
Psme3 A C 11: 101,320,611 H198P probably damaging Het
Rlbp1 T C 7: 79,377,255 D219G possibly damaging Het
Scn1b C A 7: 31,125,092 W57L probably damaging Het
Sfrp2 T C 3: 83,766,699 I53T probably damaging Het
Skiv2l T C 17: 34,847,463 probably null Het
Slc18a3 A G 14: 32,463,325 I367T probably benign Het
Slc44a2 A T 9: 21,346,950 R499W probably damaging Het
St18 A G 1: 6,795,523 D75G probably benign Het
Trim67 C A 8: 124,823,228 Y532* probably null Het
Ttc16 C T 2: 32,774,940 probably benign Het
Usp7 A T 16: 8,699,260 S487T probably damaging Het
Vmn2r104 T C 17: 20,042,825 T125A probably benign Het
Vmn2r70 T C 7: 85,559,290 T660A possibly damaging Het
Zer1 A T 2: 30,110,911 V166D probably benign Het
Other mutations in Olfr748
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Olfr748 APN 14 50710993 missense possibly damaging 0.95
IGL02965:Olfr748 APN 14 50711196 missense probably damaging 1.00
R0576:Olfr748 UTSW 14 50711204 missense probably damaging 0.98
R1184:Olfr748 UTSW 14 50710614 missense probably benign 0.01
R2129:Olfr748 UTSW 14 50710636 missense probably damaging 0.99
R2895:Olfr748 UTSW 14 50710516 missense probably damaging 0.99
R2896:Olfr748 UTSW 14 50710516 missense probably damaging 0.99
R4017:Olfr748 UTSW 14 50710876 missense probably benign 0.03
R5053:Olfr748 UTSW 14 50710511 nonsense probably null
R5057:Olfr748 UTSW 14 50711212 missense probably damaging 1.00
R5113:Olfr748 UTSW 14 50710914 missense probably benign 0.00
R5294:Olfr748 UTSW 14 50710443 missense possibly damaging 0.95
R5294:Olfr748 UTSW 14 50710779 missense probably benign 0.01
R5499:Olfr748 UTSW 14 50710867 missense probably damaging 1.00
R5582:Olfr748 UTSW 14 50710968 missense probably damaging 1.00
R5727:Olfr748 UTSW 14 50710360 missense possibly damaging 0.74
R6797:Olfr748 UTSW 14 50711106 missense probably damaging 1.00
R7685:Olfr748 UTSW 14 50710758 missense possibly damaging 0.95
R7717:Olfr748 UTSW 14 50710762 missense probably damaging 1.00
R7778:Olfr748 UTSW 14 50710471 missense possibly damaging 0.60
R8276:Olfr748 UTSW 14 50710830 missense probably benign 0.28
R8839:Olfr748 UTSW 14 50710500 missense possibly damaging 0.73
R9358:Olfr748 UTSW 14 50710345 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGACCCACTAATGGTCCTG -3'
(R):5'- GTGTCCCATAGTCAGGTAATAAAACC -3'

Sequencing Primer
(F):5'- GACCCACTAATGGTCCTGTCCTG -3'
(R):5'- ATGGAGGGCATATTTCATATCCTTG -3'
Posted On 2022-04-18