Incidental Mutation 'PIT4403001:Or4k40'
ID 555452
Institutional Source Beutler Lab
Gene Symbol Or4k40
Ensembl Gene ENSMUSG00000096703
Gene Name olfactory receptor family 4 subfamily K member 40
Synonyms MOR248-21, Olfr1286, GA_x6K02T2Q125-72472405-72471488
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # PIT4403001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 111250377-111251294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111251165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 44 (F44I)
Ref Sequence ENSEMBL: ENSMUSP00000144852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099617] [ENSMUST00000184954] [ENSMUST00000213210]
AlphaFold Q7TQY2
Predicted Effect probably benign
Transcript: ENSMUST00000099617
AA Change: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: F44I

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.4e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 301 3.4e-7 PFAM
Pfam:7tm_1 41 287 1.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184954
AA Change: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: F44I

DomainStartEndE-ValueType
Pfam:7tm_4 1 264 7.6e-38 PFAM
Pfam:7tm_1 5 251 7.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213210
AA Change: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.9%
  • 20x: 73.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 T C 3: 138,129,939 (GRCm39) V255A probably damaging Het
Ahnak T C 19: 8,983,540 (GRCm39) I1608T possibly damaging Het
Atm A T 9: 53,412,282 (GRCm39) D955E probably benign Het
Cacybp A G 1: 160,033,764 (GRCm39) S113P probably damaging Het
Cenpu C T 8: 47,015,564 (GRCm39) P160S possibly damaging Het
Clstn3 C T 6: 124,434,982 (GRCm39) G348D probably damaging Het
Cmtr1 T G 17: 29,917,047 (GRCm39) probably null Het
Dlgap2 T C 8: 14,881,528 (GRCm39) S867P probably damaging Het
Fbn1 A T 2: 125,184,831 (GRCm39) C1654S probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Garnl3 A T 2: 32,880,770 (GRCm39) L874Q probably damaging Het
Gcm2 A G 13: 41,256,315 (GRCm39) V478A probably benign Het
Gm1527 T C 3: 28,972,134 (GRCm39) I417T possibly damaging Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Ighv1-4 A G 12: 114,450,824 (GRCm39) S95P probably damaging Het
Jak3 C T 8: 72,136,993 (GRCm39) T723I probably benign Het
Jup A G 11: 100,268,913 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,611 (GRCm39) L285S probably damaging Het
Kmt2b G A 7: 30,285,114 (GRCm39) P593S probably damaging Het
Matcap1 T C 8: 106,011,376 (GRCm39) N253D probably benign Het
Mstn T C 1: 53,100,944 (GRCm39) M7T probably benign Het
Myh2 A T 11: 67,077,533 (GRCm39) K889N probably benign Het
Myo5a A G 9: 75,124,805 (GRCm39) T1787A probably damaging Het
Nlrp14 A T 7: 106,784,099 (GRCm39) Q607L possibly damaging Het
Ntf3 C T 6: 126,078,789 (GRCm39) R239Q probably damaging Het
Nup85 G T 11: 115,472,646 (GRCm39) R492L probably damaging Het
Ogfod3 A C 11: 121,087,561 (GRCm39) probably null Het
Or1j18 T A 2: 36,624,930 (GRCm39) I199K probably damaging Het
Or4c115 T A 2: 88,927,420 (GRCm39) M284L probably benign Het
Or52h2 A G 7: 103,838,667 (GRCm39) V249A probably benign Het
Or8d1 T C 9: 38,766,676 (GRCm39) I106T probably benign Het
Oxct2a A T 4: 123,216,237 (GRCm39) D381E probably damaging Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pdgfc C T 3: 81,082,268 (GRCm39) P154S probably damaging Het
Phkg1 T C 5: 129,894,772 (GRCm39) T260A probably benign Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Plekhj1 C T 10: 80,632,293 (GRCm39) D150N unknown Het
Plppr1 T G 4: 49,337,648 (GRCm39) N316K probably benign Het
Pola2 A C 19: 6,009,074 (GRCm39) S95A possibly damaging Het
Polq G A 16: 36,880,949 (GRCm39) D1038N probably benign Het
Prim1 A T 10: 127,858,745 (GRCm39) I218L probably benign Het
Prkcz A G 4: 155,377,613 (GRCm39) probably null Het
Ptgr1 T C 4: 58,968,794 (GRCm39) K282E probably benign Het
Rbm5 A G 9: 107,637,535 (GRCm39) M132T probably damaging Het
Scn2a C T 2: 65,542,252 (GRCm39) T785M probably damaging Het
Setx A G 2: 29,023,967 (GRCm39) E141G probably damaging Het
Slc24a2 A G 4: 86,950,523 (GRCm39) F425L probably benign Het
Smarcc2 A T 10: 128,298,893 (GRCm39) H92L probably damaging Het
Tatdn1 C G 15: 58,777,596 (GRCm39) E220Q probably damaging Het
Tmc7 C A 7: 118,146,623 (GRCm39) Q488H probably benign Het
Tmc7 T G 7: 118,146,624 (GRCm39) Q488P possibly damaging Het
Tmem45b C T 9: 31,338,188 (GRCm39) D264N probably benign Het
Tmtc4 A C 14: 123,210,641 (GRCm39) S72R probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Ubac1 A T 2: 25,896,609 (GRCm39) M302K probably benign Het
Ubox5 A G 2: 130,442,597 (GRCm39) I30T probably damaging Het
Vwce A G 19: 10,615,461 (GRCm39) N114S possibly damaging Het
Xpo5 T A 17: 46,550,495 (GRCm39) D992E probably benign Het
Zfhx2 G A 14: 55,312,437 (GRCm39) P86S probably benign Het
Zfp335 T C 2: 164,735,636 (GRCm39) H1106R possibly damaging Het
Zfp653 T A 9: 21,977,053 (GRCm39) Q166L probably damaging Het
Zp3r T A 1: 130,510,609 (GRCm39) N436I possibly damaging Het
Other mutations in Or4k40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Or4k40 APN 2 111,251,237 (GRCm39) missense probably benign 0.04
IGL01953:Or4k40 APN 2 111,250,657 (GRCm39) missense probably benign 0.22
IGL02251:Or4k40 APN 2 111,250,657 (GRCm39) missense probably damaging 0.99
IGL02514:Or4k40 APN 2 111,251,117 (GRCm39) missense probably damaging 1.00
IGL02868:Or4k40 APN 2 111,250,838 (GRCm39) missense possibly damaging 0.55
R0630:Or4k40 UTSW 2 111,251,191 (GRCm39) missense probably damaging 1.00
R1442:Or4k40 UTSW 2 111,250,438 (GRCm39) missense probably damaging 1.00
R1712:Or4k40 UTSW 2 111,251,003 (GRCm39) missense probably benign 0.22
R2510:Or4k40 UTSW 2 111,250,796 (GRCm39) missense possibly damaging 0.74
R4399:Or4k40 UTSW 2 111,251,144 (GRCm39) missense probably benign 0.00
R4984:Or4k40 UTSW 2 111,251,192 (GRCm39) missense probably damaging 1.00
R5186:Or4k40 UTSW 2 111,251,119 (GRCm39) missense probably damaging 1.00
R6044:Or4k40 UTSW 2 111,250,423 (GRCm39) missense probably damaging 1.00
R6107:Or4k40 UTSW 2 111,251,000 (GRCm39) missense probably benign 0.01
R6372:Or4k40 UTSW 2 111,251,147 (GRCm39) missense probably benign 0.12
R7230:Or4k40 UTSW 2 111,251,261 (GRCm39) missense probably damaging 1.00
R8464:Or4k40 UTSW 2 111,251,192 (GRCm39) missense probably damaging 1.00
R8481:Or4k40 UTSW 2 111,250,994 (GRCm39) missense possibly damaging 0.95
R8688:Or4k40 UTSW 2 111,250,958 (GRCm39) missense probably benign 0.19
R9072:Or4k40 UTSW 2 111,250,705 (GRCm39) missense possibly damaging 0.88
R9073:Or4k40 UTSW 2 111,250,705 (GRCm39) missense possibly damaging 0.88
R9479:Or4k40 UTSW 2 111,251,013 (GRCm39) missense probably damaging 1.00
R9629:Or4k40 UTSW 2 111,251,137 (GRCm39) missense probably benign
R9682:Or4k40 UTSW 2 111,250,737 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- ACGATCTGGCTCATACACCC -3'
(R):5'- AATGTGGGCTGGATAAGTTGCTAAG -3'

Sequencing Primer
(F):5'- GATCTGGCTCATACACCCTACAAAGG -3'
(R):5'- TCAGGAGTCTTTGGTTCAACTC -3'
Posted On 2019-06-07