Incidental Mutation 'R6960:Or4f4b'
ID 541691
Institutional Source Beutler Lab
Gene Symbol Or4f4b
Ensembl Gene ENSMUSG00000061195
Gene Name olfactory receptor family 4 subfamily F member 4B
Synonyms MOR245-6, GA_x6K02T2Q125-72534883-72535821, Olfr1289
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111313777-111314673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111314071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 127 (V127I)
Ref Sequence ENSEMBL: ENSMUSP00000146801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]
AlphaFold A0A288CFY5
Predicted Effect probably benign
Transcript: ENSMUST00000104889
SMART Domains Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.3e-43 PFAM
Pfam:7tm_1 41 287 2.5e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120021
AA Change: V127I

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207494
AA Change: V99I

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000214816
Predicted Effect probably benign
Transcript: ENSMUST00000217611
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Or4f4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Or4f4b APN 2 111,314,446 (GRCm39) missense probably damaging 1.00
IGL01682:Or4f4b APN 2 111,314,188 (GRCm39) missense probably damaging 1.00
IGL02028:Or4f4b APN 2 111,313,816 (GRCm39) missense probably benign 0.01
IGL02731:Or4f4b APN 2 111,313,873 (GRCm39) missense probably benign 0.00
IGL03035:Or4f4b APN 2 111,314,168 (GRCm39) missense probably benign 0.04
R1214:Or4f4b UTSW 2 111,314,237 (GRCm39) missense probably damaging 1.00
R1471:Or4f4b UTSW 2 111,314,351 (GRCm39) missense probably damaging 1.00
R1714:Or4f4b UTSW 2 111,314,008 (GRCm39) missense probably damaging 1.00
R2088:Or4f4b UTSW 2 111,314,623 (GRCm39) missense probably damaging 1.00
R2136:Or4f4b UTSW 2 111,313,961 (GRCm39) missense probably damaging 1.00
R2141:Or4f4b UTSW 2 111,313,975 (GRCm39) missense probably benign 0.23
R3945:Or4f4b UTSW 2 111,314,032 (GRCm39) nonsense probably null
R4276:Or4f4b UTSW 2 111,313,849 (GRCm39) missense probably damaging 1.00
R4562:Or4f4b UTSW 2 111,313,909 (GRCm39) missense probably benign 0.00
R4896:Or4f4b UTSW 2 111,314,005 (GRCm39) missense possibly damaging 0.82
R4946:Or4f4b UTSW 2 111,314,311 (GRCm39) missense possibly damaging 0.93
R5004:Or4f4b UTSW 2 111,314,005 (GRCm39) missense possibly damaging 0.82
R5686:Or4f4b UTSW 2 111,314,488 (GRCm39) missense probably damaging 1.00
R6032:Or4f4b UTSW 2 111,314,195 (GRCm39) missense probably damaging 1.00
R6032:Or4f4b UTSW 2 111,314,195 (GRCm39) missense probably damaging 1.00
R7293:Or4f4b UTSW 2 111,313,699 (GRCm39) splice site probably null
R7642:Or4f4b UTSW 2 111,313,823 (GRCm39) missense probably damaging 0.96
R8429:Or4f4b UTSW 2 111,313,840 (GRCm39) missense possibly damaging 0.55
R8447:Or4f4b UTSW 2 111,314,101 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATTGTGTTTGGAAACCTTC -3'
(R):5'- ACCACAGAAGGGTAAGCTTATAGC -3'

Sequencing Primer
(F):5'- TGTCATAACTGTGACCAATGACTCC -3'
(R):5'- GCTTATAGCAAAGGCCAATTGG -3'
Posted On 2018-11-28