Incidental Mutation 'R5991:Or4b1d'
ID 481997
Institutional Source Beutler Lab
Gene Symbol Or4b1d
Ensembl Gene ENSMUSG00000075066
Gene Name olfactory receptor family 4 subfamily B member 1D
Synonyms Olfr32, MOR227-9_p, MOR227-7P, MTPCR05, GA_x6K02T2Q125-51573576-51572650
MMRRC Submission 044171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5991 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89966617-89972640 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89968578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 302 (K302*)
Ref Sequence ENSEMBL: ENSMUSP00000149175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099755] [ENSMUST00000213293] [ENSMUST00000214973] [ENSMUST00000215153] [ENSMUST00000215659] [ENSMUST00000215765]
AlphaFold Q7TQZ0
Predicted Effect probably null
Transcript: ENSMUST00000099755
AA Change: K302*
SMART Domains Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: K302*

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.7e-52 PFAM
Pfam:7tm_1 38 284 6.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213293
Predicted Effect probably benign
Transcript: ENSMUST00000214973
Predicted Effect probably null
Transcript: ENSMUST00000215153
AA Change: K302*
Predicted Effect probably null
Transcript: ENSMUST00000215659
AA Change: K302*
Predicted Effect probably null
Transcript: ENSMUST00000215765
AA Change: K302*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,777,032 (GRCm39) R683Q probably damaging Het
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bbs2 G T 8: 94,824,914 (GRCm39) R23S probably benign Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Carmil2 A G 8: 106,418,023 (GRCm39) Q679R probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dnttip1 A T 2: 164,596,100 (GRCm39) Q115L possibly damaging Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc25a4 T C 8: 46,662,373 (GRCm39) Y95C probably damaging Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (GRCm39) probably null Het
Other mutations in Or4b1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Or4b1d APN 2 89,969,418 (GRCm39) missense probably benign 0.30
IGL01976:Or4b1d APN 2 89,969,268 (GRCm39) missense probably damaging 1.00
IGL02076:Or4b1d APN 2 89,969,159 (GRCm39) missense probably damaging 1.00
IGL03030:Or4b1d APN 2 89,969,006 (GRCm39) missense possibly damaging 0.93
IGL03235:Or4b1d APN 2 89,969,414 (GRCm39) missense possibly damaging 0.88
IGL03410:Or4b1d APN 2 89,969,489 (GRCm39) start gained probably benign
R1240:Or4b1d UTSW 2 89,969,157 (GRCm39) missense possibly damaging 0.48
R1511:Or4b1d UTSW 2 89,968,748 (GRCm39) missense probably benign 0.13
R1602:Or4b1d UTSW 2 89,969,399 (GRCm39) missense probably damaging 1.00
R1828:Or4b1d UTSW 2 89,968,931 (GRCm39) missense probably damaging 0.99
R2023:Or4b1d UTSW 2 89,969,200 (GRCm39) nonsense probably null
R2177:Or4b1d UTSW 2 89,968,808 (GRCm39) missense possibly damaging 0.70
R2679:Or4b1d UTSW 2 89,968,889 (GRCm39) missense possibly damaging 0.93
R4490:Or4b1d UTSW 2 89,969,261 (GRCm39) missense probably damaging 0.97
R4585:Or4b1d UTSW 2 89,968,558 (GRCm39) missense probably benign 0.01
R4586:Or4b1d UTSW 2 89,968,558 (GRCm39) missense probably benign 0.01
R4649:Or4b1d UTSW 2 89,969,432 (GRCm39) missense probably damaging 0.99
R4688:Or4b1d UTSW 2 89,969,343 (GRCm39) missense possibly damaging 0.80
R4694:Or4b1d UTSW 2 89,968,593 (GRCm39) nonsense probably null
R5245:Or4b1d UTSW 2 89,968,606 (GRCm39) missense probably damaging 1.00
R5509:Or4b1d UTSW 2 89,969,236 (GRCm39) missense probably damaging 1.00
R6004:Or4b1d UTSW 2 89,969,343 (GRCm39) missense probably benign 0.32
R6128:Or4b1d UTSW 2 89,968,954 (GRCm39) nonsense probably null
R6519:Or4b1d UTSW 2 89,969,156 (GRCm39) missense possibly damaging 0.90
R7472:Or4b1d UTSW 2 89,968,668 (GRCm39) missense probably damaging 1.00
R7892:Or4b1d UTSW 2 89,968,836 (GRCm39) missense probably benign 0.00
R8017:Or4b1d UTSW 2 89,969,170 (GRCm39) missense probably benign 0.02
R8046:Or4b1d UTSW 2 89,969,159 (GRCm39) missense probably damaging 1.00
R8464:Or4b1d UTSW 2 89,968,947 (GRCm39) missense possibly damaging 0.67
R8712:Or4b1d UTSW 2 89,969,114 (GRCm39) missense probably damaging 1.00
R8998:Or4b1d UTSW 2 89,969,472 (GRCm39) missense probably benign
R9789:Or4b1d UTSW 2 89,969,004 (GRCm39) missense probably benign 0.23
X0066:Or4b1d UTSW 2 89,968,734 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACACATTAGAGAAGTTCTATTCC -3'
(R):5'- CTCTCACATCATGGTGGTTGTCTTG -3'

Sequencing Primer
(F):5'- AAGTTCTATTCCTAAATCGTACACAC -3'
(R):5'- GTTGTCTTGTTCTTTGGACCTGCC -3'
Posted On 2017-06-26