Incidental Mutation 'R6875:Or4f56'
ID 536350
Institutional Source Beutler Lab
Gene Symbol Or4f56
Ensembl Gene ENSMUSG00000074955
Gene Name olfactory receptor family 4 subfamily F member 56
Synonyms MOR245-8, Olfr1305, GA_x6K02T2Q125-72930843-72929905
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111703260-111704198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111703306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 298 (I298N)
Ref Sequence ENSEMBL: ENSMUSP00000149852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099608] [ENSMUST00000213405] [ENSMUST00000213737]
AlphaFold A2AVW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099608
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: I298N

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.4e-41 PFAM
Pfam:7TM_GPCR_Srsx 35 302 6.8e-7 PFAM
Pfam:7tm_1 41 287 4.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213405
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213737
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,154 (GRCm39) H270R probably damaging Het
Abcb1a T C 5: 8,751,628 (GRCm39) I336T probably benign Het
Adam19 T A 11: 46,003,702 (GRCm39) F177I probably benign Het
Ankrd53 T C 6: 83,745,155 (GRCm39) V455A probably damaging Het
Arrdc1 A G 2: 24,815,677 (GRCm39) S415P probably benign Het
Atp10a T C 7: 58,447,100 (GRCm39) L614P probably benign Het
Catsper1 G T 19: 5,393,991 (GRCm39) V668F probably damaging Het
Cluh T A 11: 74,552,744 (GRCm39) D596E probably damaging Het
Cnot10 A G 9: 114,444,175 (GRCm39) S407P probably benign Het
Commd6 T C 14: 101,871,786 (GRCm39) T86A probably damaging Het
D5Ertd579e A T 5: 36,762,001 (GRCm39) probably null Het
Eif3l A G 15: 78,969,760 (GRCm39) D252G probably damaging Het
Epha2 A T 4: 141,055,779 (GRCm39) S962C probably damaging Het
Fcho1 C A 8: 72,167,069 (GRCm39) probably null Het
Fgf23 G T 6: 127,050,179 (GRCm39) G63C probably damaging Het
Flnc A T 6: 29,445,748 (GRCm39) Y834F probably damaging Het
Gcn1 T C 5: 115,726,169 (GRCm39) L608P probably damaging Het
Hdac5 T A 11: 102,093,102 (GRCm39) E545V probably damaging Het
Hecw2 A T 1: 53,976,291 (GRCm39) M166K probably benign Het
Ikbkb T C 8: 23,155,909 (GRCm39) D586G probably damaging Het
Il36g G C 2: 24,078,633 (GRCm39) probably null Het
Ipo13 A T 4: 117,762,108 (GRCm39) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kat6a G A 8: 23,422,377 (GRCm39) A896T probably benign Het
Kif28 A G 1: 179,563,559 (GRCm39) I139T probably damaging Het
Klhl25 A G 7: 75,516,090 (GRCm39) E332G probably damaging Het
Krt8 C T 15: 101,906,343 (GRCm39) A389T probably benign Het
Msrb3 T C 10: 120,620,011 (GRCm39) S175G probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nckap5 A G 1: 125,950,931 (GRCm39) S1519P probably benign Het
Npnt T A 3: 132,615,671 (GRCm39) D124V probably damaging Het
Nr1d1 A T 11: 98,661,662 (GRCm39) probably null Het
Ogdh A G 11: 6,290,477 (GRCm39) Y365C probably benign Het
Phf21b A T 15: 84,671,647 (GRCm39) C416S probably damaging Het
Prpsap1 A G 11: 116,362,264 (GRCm39) S373P probably damaging Het
Qrfprl A T 6: 65,433,320 (GRCm39) N380I probably benign Het
Rab28 T C 5: 41,860,877 (GRCm39) T26A probably damaging Het
Rbbp8nl A G 2: 179,921,019 (GRCm39) I455T probably benign Het
Rnft2 G A 5: 118,366,883 (GRCm39) A285V possibly damaging Het
Rrp36 G T 17: 46,983,297 (GRCm39) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn5a A G 9: 119,315,710 (GRCm39) L1666P probably damaging Het
Siglecf A C 7: 43,004,624 (GRCm39) T318P probably benign Het
Slc22a1 C T 17: 12,886,192 (GRCm39) W147* probably null Het
Smchd1 T C 17: 71,660,501 (GRCm39) I1868V probably damaging Het
Snx21 A G 2: 164,633,822 (GRCm39) S203G probably damaging Het
Srl T C 16: 4,300,695 (GRCm39) K792R probably benign Het
Srrt A G 5: 137,296,935 (GRCm39) F100S probably benign Het
Stard9 G T 2: 120,527,917 (GRCm39) M1391I probably benign Het
Syne2 A G 12: 76,082,404 (GRCm39) E119G probably damaging Het
Syt11 G T 3: 88,669,462 (GRCm39) S143R possibly damaging Het
Tiparp T A 3: 65,439,063 (GRCm39) H126Q probably benign Het
Tulp2 C A 7: 45,168,038 (GRCm39) T150K probably benign Het
Ugt2b37 T A 5: 87,390,288 (GRCm39) Y386F probably benign Het
Usp31 C T 7: 121,248,863 (GRCm39) W860* probably null Het
Zfp317 A G 9: 19,554,961 (GRCm39) R30G probably damaging Het
Zfp709 C A 8: 72,642,851 (GRCm39) N93K possibly damaging Het
Other mutations in Or4f56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Or4f56 APN 2 111,703,295 (GRCm39) missense probably benign 0.03
IGL02198:Or4f56 APN 2 111,703,593 (GRCm39) missense probably damaging 1.00
IGL02277:Or4f56 APN 2 111,703,925 (GRCm39) missense possibly damaging 0.91
IGL02302:Or4f56 APN 2 111,703,887 (GRCm39) missense possibly damaging 0.76
IGL03348:Or4f56 APN 2 111,703,493 (GRCm39) missense probably damaging 0.99
PIT4131001:Or4f56 UTSW 2 111,703,649 (GRCm39) missense probably benign 0.02
R2144:Or4f56 UTSW 2 111,703,768 (GRCm39) missense probably damaging 0.96
R2860:Or4f56 UTSW 2 111,703,818 (GRCm39) nonsense probably null
R2861:Or4f56 UTSW 2 111,703,818 (GRCm39) nonsense probably null
R3785:Or4f56 UTSW 2 111,703,831 (GRCm39) missense probably damaging 0.99
R4474:Or4f56 UTSW 2 111,703,784 (GRCm39) missense possibly damaging 0.52
R4508:Or4f56 UTSW 2 111,703,947 (GRCm39) missense probably damaging 1.00
R4540:Or4f56 UTSW 2 111,703,546 (GRCm39) missense probably damaging 1.00
R4783:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R4784:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R4785:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R5410:Or4f56 UTSW 2 111,703,637 (GRCm39) missense probably damaging 1.00
R5491:Or4f56 UTSW 2 111,703,907 (GRCm39) missense probably benign 0.44
R7185:Or4f56 UTSW 2 111,704,167 (GRCm39) missense possibly damaging 0.89
R7992:Or4f56 UTSW 2 111,703,280 (GRCm39) missense probably benign
R9100:Or4f56 UTSW 2 111,703,606 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CCTAACAGGAGGTGATTGCC -3'
(R):5'- TGATTACTGCCAATAGTGGGTTC -3'

Sequencing Primer
(F):5'- CCTGAATGTGCTCAAAGGGTCTC -3'
(R):5'- TCAGGATGTTCATCCAAGGC -3'
Posted On 2018-10-18