Incidental Mutation 'R4754:Or4a72'
ID 357771
Institutional Source Beutler Lab
Gene Symbol Or4a72
Ensembl Gene ENSMUSG00000111456
Gene Name olfactory receptor family 4 subfamily A member 72
Synonyms GA_x6K02T2Q125-51020951-51020028, MOR231-12, Olfr1245
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R4754 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89405056-89406117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89405391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 226 (H226Q)
Ref Sequence ENSEMBL: ENSMUSP00000150791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214870] [ENSMUST00000217402]
AlphaFold A0A1L1SQJ6
Predicted Effect probably benign
Transcript: ENSMUST00000099766
AA Change: H226Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: H226Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 6e-49 PFAM
Pfam:7tm_1 39 285 2.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214870
AA Change: H226Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217402
AA Change: H226Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (107/109)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,837 (GRCm39) Y63C probably damaging Het
Abcb4 C A 5: 8,960,717 (GRCm39) F266L probably damaging Het
Adam8 A T 7: 139,564,693 (GRCm39) I681N possibly damaging Het
Adgrf3 T A 5: 30,402,615 (GRCm39) probably null Het
Ang2 A G 14: 51,432,974 (GRCm39) V136A probably damaging Het
Ankar C T 1: 72,737,853 (GRCm39) G110R probably damaging Het
Ap3b1 T C 13: 94,540,468 (GRCm39) L130P probably damaging Het
Apc2 T G 10: 80,150,192 (GRCm39) W1749G probably benign Het
Asb2 T C 12: 103,290,096 (GRCm39) N565S possibly damaging Het
B3gnt7 C A 1: 86,233,279 (GRCm39) T58K probably benign Het
Bltp1 C T 3: 37,076,615 (GRCm39) Q3663* probably null Het
Brpf1 T A 6: 113,297,408 (GRCm39) N876K possibly damaging Het
Ccdc157 T C 11: 4,098,994 (GRCm39) I69V possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh20 A T 1: 104,912,410 (GRCm39) I555F probably damaging Het
Cfap73 T C 5: 120,767,729 (GRCm39) D274G probably damaging Het
Chd5 T A 4: 152,462,203 (GRCm39) I1310N probably damaging Het
Ckap2 T A 8: 22,658,911 (GRCm39) I611F possibly damaging Het
Cpeb2 A G 5: 43,443,200 (GRCm39) I964V possibly damaging Het
Ctbp2 C A 7: 132,625,287 (GRCm39) probably null Het
Dhrs2 A T 14: 55,476,205 (GRCm39) I142F probably damaging Het
Dnah5 T A 15: 28,421,101 (GRCm39) probably null Het
Dst T C 1: 34,251,390 (GRCm39) S1822P probably damaging Het
Ect2 T C 3: 27,181,112 (GRCm39) K581E probably damaging Het
Edem1 C T 6: 108,818,658 (GRCm39) T222M probably damaging Het
Eif2ak1 A G 5: 143,838,621 (GRCm39) M592V probably damaging Het
Endou T G 15: 97,624,420 (GRCm39) D49A probably damaging Het
Ensa A G 3: 95,529,865 (GRCm39) probably benign Het
Evc2 G T 5: 37,544,375 (GRCm39) R708L probably damaging Het
Fam120b T A 17: 15,643,224 (GRCm39) C668S probably damaging Het
Fam135a A T 1: 24,067,835 (GRCm39) C798* probably null Het
Fam135b T C 15: 71,334,800 (GRCm39) D798G probably benign Het
Fshb A C 2: 106,887,627 (GRCm39) *131E probably null Het
G3bp2 C T 5: 92,202,768 (GRCm39) V441M possibly damaging Het
Galnt6 A T 15: 100,597,105 (GRCm39) F354I probably damaging Het
Gm1123 C A 9: 98,905,293 (GRCm39) probably null Het
Gm1123 A T 9: 98,905,294 (GRCm39) probably null Het
Gm15130 T C 2: 110,973,207 (GRCm39) N115S unknown Het
Gm7104 A G 12: 88,252,765 (GRCm39) noncoding transcript Het
Gm9762 A T 3: 78,873,728 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,756,173 (GRCm39) T505A probably damaging Het
Grip2 A G 6: 91,756,163 (GRCm39) V508A probably damaging Het
Haus4 A G 14: 54,787,349 (GRCm39) probably null Het
Herc1 T A 9: 66,408,488 (GRCm39) D4571E probably benign Het
Hnrnpk T A 13: 58,546,950 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,321 (GRCm39) Y23C probably damaging Het
Kansl2-ps A G 7: 72,322,881 (GRCm39) noncoding transcript Het
Kcnma1 T C 14: 23,413,904 (GRCm39) D833G probably damaging Het
Kmt2e A T 5: 23,687,439 (GRCm39) I430F possibly damaging Het
Lama2 C A 10: 26,994,527 (GRCm39) R1794L possibly damaging Het
Mcpt1 T A 14: 56,256,137 (GRCm39) F59I probably damaging Het
Mib2 G T 4: 155,739,822 (GRCm39) T783K possibly damaging Het
Nlrp4g T C 9: 124,349,788 (GRCm38) noncoding transcript Het
Nudt16l2 A T 9: 105,021,592 (GRCm39) F151L probably benign Het
Obscn T C 11: 58,926,869 (GRCm39) I6352V possibly damaging Het
Or2j6 C T 7: 139,980,072 (GRCm39) A296T probably damaging Het
Or4k1 T A 14: 50,377,490 (GRCm39) N202I possibly damaging Het
Or4k1 T G 14: 50,377,491 (GRCm39) N202H probably benign Het
Or52a5 T C 7: 103,426,875 (GRCm39) I226V probably benign Het
Or5b125-ps1 T A 19: 13,056,225 (GRCm39) noncoding transcript Het
Pcdh10 G A 3: 45,335,072 (GRCm39) R462H probably damaging Het
Pcdhga12 C A 18: 37,899,604 (GRCm39) N145K probably damaging Het
Pik3r6 T A 11: 68,435,601 (GRCm39) L613Q probably damaging Het
Pknox2 T C 9: 36,821,016 (GRCm39) D282G probably damaging Het
Plod2 T G 9: 92,488,584 (GRCm39) Y624* probably null Het
Prkd3 C A 17: 79,264,043 (GRCm39) V684F probably damaging Het
Ptpn1 T A 2: 167,816,080 (GRCm39) V198D probably damaging Het
Ptpn12 G T 5: 21,203,587 (GRCm39) P397Q probably benign Het
Rad1 C A 15: 10,493,212 (GRCm39) probably benign Het
Rasl11a A G 5: 146,783,825 (GRCm39) D90G probably benign Het
Rnf181 A G 6: 72,337,543 (GRCm39) probably benign Het
Ryr3 T C 2: 112,587,984 (GRCm39) I2652M possibly damaging Het
Siglecg C T 7: 43,061,295 (GRCm39) probably benign Het
Slc22a3 T C 17: 12,726,082 (GRCm39) S44G probably benign Het
Slc38a1 A T 15: 96,474,663 (GRCm39) F463I probably damaging Het
Smg1 A T 7: 117,755,954 (GRCm39) probably benign Het
Syk T C 13: 52,766,295 (GRCm39) probably benign Het
Tasor A T 14: 27,183,052 (GRCm39) I504L probably benign Het
Tbc1d5 T C 17: 51,107,193 (GRCm39) I454M probably benign Het
Tmed6 C A 8: 107,790,362 (GRCm39) D146Y probably damaging Het
Tmem132e A T 11: 82,335,677 (GRCm39) K828* probably null Het
Tmprss15 A T 16: 78,851,012 (GRCm39) S294T probably damaging Het
Trp53bp1 A G 2: 121,038,360 (GRCm39) S1493P probably damaging Het
Tshb A T 3: 102,685,491 (GRCm39) I46N probably damaging Het
Tspan11 T C 6: 127,915,183 (GRCm39) V99A probably benign Het
Ttn T C 2: 76,545,905 (GRCm39) T24176A probably benign Het
Vmn1r8 T C 6: 57,012,952 (GRCm39) M1T probably null Het
Vmn2r104 A T 17: 20,261,030 (GRCm39) Y464* probably null Het
Vmn2r110 T C 17: 20,816,458 (GRCm39) T22A probably benign Het
Vmn2r17 T A 5: 109,600,715 (GRCm39) I671K probably damaging Het
Zbtb21 T C 16: 97,752,466 (GRCm39) N606D probably damaging Het
Zfy2 A T Y: 2,121,477 (GRCm39) S139T probably benign Het
Zkscan17 G A 11: 59,393,851 (GRCm39) R156* probably null Het
Zp2 A G 7: 119,737,541 (GRCm39) V248A probably benign Het
Other mutations in Or4a72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Or4a72 APN 2 89,405,767 (GRCm39) missense possibly damaging 0.68
IGL01690:Or4a72 APN 2 89,405,557 (GRCm39) missense probably benign 0.09
IGL02334:Or4a72 APN 2 89,405,668 (GRCm39) missense possibly damaging 0.95
IGL02435:Or4a72 APN 2 89,405,890 (GRCm39) missense probably damaging 0.99
IGL02793:Or4a72 APN 2 89,405,896 (GRCm39) missense probably damaging 1.00
IGL02875:Or4a72 APN 2 89,405,896 (GRCm39) missense probably damaging 1.00
IGL03218:Or4a72 APN 2 89,405,935 (GRCm39) missense probably benign 0.09
IGL03392:Or4a72 APN 2 89,405,593 (GRCm39) missense probably damaging 0.96
H8786:Or4a72 UTSW 2 89,405,623 (GRCm39) missense probably damaging 1.00
I0000:Or4a72 UTSW 2 89,405,497 (GRCm39) missense probably damaging 1.00
R0044:Or4a72 UTSW 2 89,405,974 (GRCm39) missense possibly damaging 0.68
R0190:Or4a72 UTSW 2 89,405,302 (GRCm39) missense probably damaging 0.98
R1585:Or4a72 UTSW 2 89,405,746 (GRCm39) missense possibly damaging 0.89
R1902:Or4a72 UTSW 2 89,405,947 (GRCm39) missense possibly damaging 0.77
R2018:Or4a72 UTSW 2 89,405,737 (GRCm39) missense probably damaging 0.97
R2019:Or4a72 UTSW 2 89,405,737 (GRCm39) missense probably damaging 0.97
R2020:Or4a72 UTSW 2 89,405,305 (GRCm39) missense possibly damaging 0.88
R2021:Or4a72 UTSW 2 89,405,305 (GRCm39) missense possibly damaging 0.88
R2030:Or4a72 UTSW 2 89,405,558 (GRCm39) missense probably benign 0.00
R2133:Or4a72 UTSW 2 89,405,600 (GRCm39) nonsense probably null
R3850:Or4a72 UTSW 2 89,405,378 (GRCm39) missense probably damaging 0.99
R4066:Or4a72 UTSW 2 89,405,523 (GRCm39) missense probably damaging 1.00
R4923:Or4a72 UTSW 2 89,406,023 (GRCm39) missense probably damaging 0.98
R5303:Or4a72 UTSW 2 89,405,345 (GRCm39) missense possibly damaging 0.88
R5574:Or4a72 UTSW 2 89,405,321 (GRCm39) missense possibly damaging 0.94
R6083:Or4a72 UTSW 2 89,406,016 (GRCm39) missense probably benign 0.42
R6188:Or4a72 UTSW 2 89,405,538 (GRCm39) nonsense probably null
R6724:Or4a72 UTSW 2 89,405,309 (GRCm39) missense probably benign 0.26
R6964:Or4a72 UTSW 2 89,405,333 (GRCm39) missense probably benign
R7066:Or4a72 UTSW 2 89,406,047 (GRCm39) missense probably damaging 0.98
R7401:Or4a72 UTSW 2 89,405,449 (GRCm39) missense probably benign 0.27
R8232:Or4a72 UTSW 2 89,405,938 (GRCm39) missense noncoding transcript
R8558:Or4a72 UTSW 2 89,405,329 (GRCm39) missense probably damaging 1.00
R8708:Or4a72 UTSW 2 89,405,623 (GRCm39) missense probably damaging 1.00
R9482:Or4a72 UTSW 2 89,405,953 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGATAGAATTTTGCACCAGAGC -3'
(R):5'- TGGTGGTTTTACACACTCTCTG -3'

Sequencing Primer
(F):5'- GCACCAGAGCTTTTTCATACAAG -3'
(R):5'- ACACACTCTCTGATTCAAATTGTC -3'
Posted On 2015-11-11