Incidental Mutation 'R8268:Or4a68'
ID 639527
Institutional Source Beutler Lab
Gene Symbol Or4a68
Ensembl Gene ENSMUSG00000111174
Gene Name olfactory receptor family 4 subfamily A member 68
Synonyms Olfr1240, MOR231-8, GA_x6K02T2Q125-50883183-50882239
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R8268 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89269614-89270687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89269780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 281 (N281S)
Ref Sequence ENSEMBL: ENSMUSP00000150256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000215362] [ENSMUST00000216123]
AlphaFold Q8VG73
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187363
AA Change: N281S
SMART Domains Protein: ENSMUSP00000139968
Gene: ENSMUSG00000099909
AA Change: N281S

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 2e-28 PFAM
Pfam:7tm_4 137 278 1.2e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215362
AA Change: N281S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216123
AA Change: N281S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,909,961 (GRCm39) C396S probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Sh3pxd2a C T 19: 47,256,033 (GRCm39) R923H probably benign Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stard3nl A G 13: 19,560,629 (GRCm39) S49P probably damaging Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Tmem167 T C 13: 90,252,554 (GRCm39) F70S probably damaging Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G probably benign Het
Other mutations in Or4a68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Or4a68 APN 2 89,270,144 (GRCm39) missense probably benign 0.00
IGL01767:Or4a68 APN 2 89,270,144 (GRCm39) missense probably benign 0.00
R0375:Or4a68 UTSW 2 89,269,740 (GRCm39) missense probably benign 0.00
R0417:Or4a68 UTSW 2 89,270,519 (GRCm39) missense possibly damaging 0.88
R0501:Or4a68 UTSW 2 89,270,060 (GRCm39) missense probably benign 0.09
R0586:Or4a68 UTSW 2 89,269,698 (GRCm39) missense possibly damaging 0.55
R0624:Or4a68 UTSW 2 89,270,482 (GRCm39) missense possibly damaging 0.94
R1168:Or4a68 UTSW 2 89,270,213 (GRCm39) nonsense probably null
R1728:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1729:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1730:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1739:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1762:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1783:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R1785:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R2038:Or4a68 UTSW 2 89,269,689 (GRCm39) missense probably benign 0.00
R2049:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R2069:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R2140:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R2142:Or4a68 UTSW 2 89,269,927 (GRCm39) missense probably benign 0.00
R2215:Or4a68 UTSW 2 89,270,381 (GRCm39) missense probably benign 0.00
R3714:Or4a68 UTSW 2 89,269,727 (GRCm39) missense probably damaging 1.00
R4304:Or4a68 UTSW 2 89,270,542 (GRCm39) missense probably damaging 0.96
R4437:Or4a68 UTSW 2 89,269,698 (GRCm39) missense possibly damaging 0.55
R4825:Or4a68 UTSW 2 89,270,209 (GRCm39) missense probably benign 0.01
R4857:Or4a68 UTSW 2 89,269,967 (GRCm39) missense probably damaging 1.00
R4865:Or4a68 UTSW 2 89,270,003 (GRCm39) missense possibly damaging 0.88
R5588:Or4a68 UTSW 2 89,269,760 (GRCm39) missense probably damaging 1.00
R5730:Or4a68 UTSW 2 89,269,780 (GRCm39) missense probably damaging 1.00
R7206:Or4a68 UTSW 2 89,270,801 (GRCm39) start gained probably benign
R7365:Or4a68 UTSW 2 89,270,542 (GRCm39) missense probably benign 0.01
R7574:Or4a68 UTSW 2 89,269,745 (GRCm39) missense possibly damaging 0.94
R8007:Or4a68 UTSW 2 89,270,684 (GRCm39)
R8559:Or4a68 UTSW 2 89,270,528 (GRCm39) missense probably benign 0.03
R8812:Or4a68 UTSW 2 89,270,209 (GRCm39) missense probably benign 0.01
R9269:Or4a68 UTSW 2 89,270,276 (GRCm39) missense probably damaging 0.99
R9534:Or4a68 UTSW 2 89,269,999 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AAGAATCCCAGTGGCATGCTG -3'
(R):5'- GGAGCAATTTGTATGACGGTC -3'

Sequencing Primer
(F):5'- GCATCACCCTTTGTTAGAACG -3'
(R):5'- GCAATTTGTATGACGGTCTTTATCC -3'
Posted On 2020-07-28