Incidental Mutation 'R2177:Or4b1d'
ID 236918
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 040179-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R2177 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89966617-89972640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89968808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 225 (H225L)
Ref Sequence ENSEMBL: ENSMUSP00000149175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099755] [ENSMUST00000213293] [ENSMUST00000214973] [ENSMUST00000215153] [ENSMUST00000215659] [ENSMUST00000215765]
AlphaFold Q7TQZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099755
AA Change: H225L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: H225L

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.7e-52 PFAM
Pfam:7tm_1 38 284 6.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213293
AA Change: H225L

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000214973
Predicted Effect possibly damaging
Transcript: ENSMUST00000215153
AA Change: H225L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000215659
AA Change: H225L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215765
AA Change: H225L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,312 (GRCm39) N356K probably damaging Het
Acap2 C T 16: 30,952,346 (GRCm39) probably null Het
Adamts19 T C 18: 59,087,626 (GRCm39) L552P possibly damaging Het
Adamts2 T A 11: 50,668,055 (GRCm39) M539K probably damaging Het
Aplp1 A T 7: 30,141,946 (GRCm39) C210* probably null Het
Apoa1 A T 9: 46,141,371 (GRCm39) K156* probably null Het
AW551984 G A 9: 39,511,111 (GRCm39) R159C probably benign Het
Bok C T 1: 93,622,787 (GRCm39) Q112* probably null Het
Cemip2 T C 19: 21,789,149 (GRCm39) S528P possibly damaging Het
Cfap57 T G 4: 118,463,885 (GRCm39) I323L probably benign Het
Cfap69 T A 5: 5,675,803 (GRCm39) E270D probably damaging Het
Ch25h G T 19: 34,452,097 (GRCm39) L144M probably damaging Het
Clcn6 T A 4: 148,099,057 (GRCm39) I429F possibly damaging Het
Cpb1 T A 3: 20,320,611 (GRCm39) T115S probably benign Het
Csf1r T A 18: 61,248,015 (GRCm39) probably benign Het
Ddx6 A G 9: 44,539,028 (GRCm39) T279A probably damaging Het
Dnah8 A G 17: 30,872,367 (GRCm39) H452R probably benign Het
Dscam T A 16: 96,411,524 (GRCm39) D1784V probably damaging Het
Exo1 T A 1: 175,710,456 (GRCm39) probably null Het
Fcho1 A G 8: 72,164,905 (GRCm39) S459P probably damaging Het
Fxyd4 C T 6: 117,911,393 (GRCm39) A56T probably damaging Het
Gbf1 T C 19: 46,254,109 (GRCm39) S599P probably benign Het
Iqce T C 5: 140,677,348 (GRCm39) probably benign Het
Kat2a A G 11: 100,601,648 (GRCm39) F256L probably damaging Het
Klk1b1 G T 7: 43,618,695 (GRCm39) R24L possibly damaging Het
Krtap16-1 A G 11: 99,877,275 (GRCm39) V43A probably damaging Het
Maea C G 5: 33,529,034 (GRCm39) Q326E probably benign Het
Man1a2 A T 3: 100,539,847 (GRCm39) I308N probably damaging Het
Marf1 G T 16: 13,970,471 (GRCm39) R83S probably benign Het
Me3 A C 7: 89,282,278 (GRCm39) T54P probably benign Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Mmel1 A G 4: 154,978,560 (GRCm39) N664S probably damaging Het
Mrgprb2 A G 7: 48,202,128 (GRCm39) V199A probably benign Het
Mrpl36 T A 13: 73,479,588 (GRCm39) F33I probably benign Het
Nlrp4e A T 7: 23,054,686 (GRCm39) T947S probably benign Het
Or14c45 G A 7: 86,176,870 (GRCm39) V302I probably benign Het
Or8b55 A T 9: 38,727,482 (GRCm39) I228F possibly damaging Het
Parp4 A T 14: 56,896,746 (GRCm39) R1923S unknown Het
Pcm1 T C 8: 41,729,002 (GRCm39) V658A probably benign Het
Pkhd1l1 A G 15: 44,322,791 (GRCm39) S26G probably benign Het
Prom1 A T 5: 44,184,081 (GRCm39) H433Q possibly damaging Het
Rab7 T C 6: 87,982,063 (GRCm39) D104G probably damaging Het
Rabgap1l A G 1: 160,551,632 (GRCm39) V282A possibly damaging Het
Rdh13 T C 7: 4,430,666 (GRCm39) E264G possibly damaging Het
Rock1 C G 18: 10,070,263 (GRCm39) R1270T probably benign Het
Sdhaf4 C T 1: 24,035,370 (GRCm39) G93R probably damaging Het
Sec24a T C 11: 51,595,228 (GRCm39) T910A probably benign Het
Sesn1 A G 10: 41,779,778 (GRCm39) H345R possibly damaging Het
Snx4 T A 16: 33,106,428 (GRCm39) probably null Het
Tchh A G 3: 93,351,439 (GRCm39) E293G unknown Het
Ulk2 T A 11: 61,682,335 (GRCm39) T727S probably benign Het
Usp53 T C 3: 122,729,706 (GRCm39) E756G probably damaging Het
Vmn2r68 G A 7: 84,871,123 (GRCm39) A720V probably benign Het
Vmn2r79 A G 7: 86,645,839 (GRCm39) N56S possibly damaging Het
Washc5 A T 15: 59,235,118 (GRCm39) Y263* probably null Het
Zfp119b A T 17: 56,245,639 (GRCm39) C516S probably damaging 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
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
R5991:Or4b1d UTSW 2 89,968,578 (GRCm39) nonsense probably null
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'- CACCTCTGCATTTCTGAGTGTG -3'
(R):5'- AGTAGGCCCAAATGTCACCG -3'

Sequencing Primer
(F):5'- CCTCTGCATTTCTGAGTGTGTAGATG -3'
(R):5'- CCAAATGTCACCGGCTGG -3'
Posted On 2014-10-02