Incidental Mutation 'R4778:Or2ag1b'
ID 368086
Institutional Source Beutler Lab
Gene Symbol Or2ag1b
Ensembl Gene ENSMUSG00000064223
Gene Name olfactory receptor family 2 subfamily AG member 1B
Synonyms MOR283-9, GA_x6K02T2PBJ9-9067220-9066273, Olfr694
MMRRC Submission 042414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R4778 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 106287989-106288936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 106288874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 21 (S21R)
Ref Sequence ENSEMBL: ENSMUSP00000151027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052535] [ENSMUST00000082091] [ENSMUST00000216118] [ENSMUST00000216895]
AlphaFold K7N641
Predicted Effect probably damaging
Transcript: ENSMUST00000052535
AA Change: S21R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: S21R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.1e-43 PFAM
Pfam:7tm_1 41 290 9.1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082091
AA Change: S21R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: S21R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.6e-6 PFAM
Pfam:7tm_1 41 290 7.1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208331
Predicted Effect probably damaging
Transcript: ENSMUST00000216118
AA Change: S21R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216895
AA Change: S21R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.2798 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,615,342 (GRCm39) N1349S probably damaging Het
Ahnak T C 19: 8,989,339 (GRCm39) V3541A possibly damaging Het
Arhgap33 T A 7: 30,231,518 (GRCm39) T156S probably benign Het
Bltp1 T A 3: 36,991,214 (GRCm39) M897K possibly damaging Het
Card11 G T 5: 140,869,537 (GRCm39) probably null Het
Cdh3 T A 8: 107,270,458 (GRCm39) I445N probably damaging Het
Csrp3 T G 7: 48,482,311 (GRCm39) K169N probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Czib T C 4: 107,749,195 (GRCm39) V64A probably damaging Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Erc1 A T 6: 119,774,298 (GRCm39) probably null Het
Fat1 T C 8: 45,491,363 (GRCm39) V3808A probably benign Het
Fbxw19 T C 9: 109,323,714 (GRCm39) D87G probably damaging Het
Gm1123 T C 9: 98,900,560 (GRCm39) I99V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hand1 T C 11: 57,722,449 (GRCm39) D55G possibly damaging Het
Lrguk T A 6: 34,033,015 (GRCm39) I227K probably damaging Het
Mdn1 C T 4: 32,683,583 (GRCm39) R726* probably null Het
Minar1 T A 9: 89,485,155 (GRCm39) I81F probably damaging Het
Myo16 T A 8: 10,619,694 (GRCm39) V1415E probably damaging Het
Myof T C 19: 37,938,011 (GRCm39) D901G probably damaging Het
Naip1 A G 13: 100,563,156 (GRCm39) Y670H probably damaging Het
Nmd3 T A 3: 69,638,924 (GRCm39) Y171* probably null Het
Notch4 C T 17: 34,801,485 (GRCm39) A1111V possibly damaging Het
Nphp4 T A 4: 152,640,748 (GRCm39) D1038E probably benign Het
Or5p60 A T 7: 107,723,687 (GRCm39) I261N possibly damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pcsk6 G A 7: 65,608,893 (GRCm39) G252R probably damaging Het
Pole T G 5: 110,478,698 (GRCm39) H15Q probably benign Het
Pstpip1 A G 9: 56,035,904 (GRCm39) D383G possibly damaging Het
Ptprq T C 10: 107,426,883 (GRCm39) T1551A probably benign Het
Rasgrf2 A G 13: 92,131,780 (GRCm39) F626L probably damaging Het
Retreg1 C A 15: 25,971,871 (GRCm39) N394K possibly damaging Het
Rpl7-ps8 T A 15: 59,083,252 (GRCm39) noncoding transcript Het
Rpp14 T A 14: 8,090,203 (GRCm38) D42E probably benign Het
Rrp8 T A 7: 105,386,481 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Snx1 T C 9: 66,008,698 (GRCm39) probably benign Het
Stau1 A T 2: 166,805,442 (GRCm39) N51K probably benign Het
Tdrd5 T A 1: 156,083,157 (GRCm39) D960V probably damaging Het
Tex10 T C 4: 48,436,468 (GRCm39) D750G probably damaging Het
Tmem43 T C 6: 91,459,237 (GRCm39) V236A probably damaging Het
Tmem89 T C 9: 108,744,443 (GRCm39) V112A probably damaging Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Vmn1r41 A C 6: 89,724,257 (GRCm39) K266T probably damaging Het
Vmn2r65 T C 7: 84,592,801 (GRCm39) K469E possibly damaging Het
Zfp831 A G 2: 174,488,600 (GRCm39) T1092A possibly damaging Het
Zfp981 T A 4: 146,622,112 (GRCm39) S346T probably benign Het
Other mutations in Or2ag1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Or2ag1b APN 7 106,288,738 (GRCm39) missense probably damaging 1.00
IGL01759:Or2ag1b APN 7 106,288,540 (GRCm39) missense probably benign 0.04
IGL02435:Or2ag1b APN 7 106,288,710 (GRCm39) missense probably benign 0.26
IGL02569:Or2ag1b APN 7 106,288,849 (GRCm39) missense probably benign 0.19
IGL02611:Or2ag1b APN 7 106,287,996 (GRCm39) missense probably benign 0.11
IGL02726:Or2ag1b APN 7 106,288,577 (GRCm39) nonsense probably null
IGL02944:Or2ag1b APN 7 106,288,476 (GRCm39) missense probably damaging 1.00
IGL03155:Or2ag1b APN 7 106,288,446 (GRCm39) missense probably damaging 1.00
R0238:Or2ag1b UTSW 7 106,288,462 (GRCm39) missense probably benign 0.00
R0238:Or2ag1b UTSW 7 106,288,462 (GRCm39) missense probably benign 0.00
R0239:Or2ag1b UTSW 7 106,288,462 (GRCm39) missense probably benign 0.00
R0239:Or2ag1b UTSW 7 106,288,462 (GRCm39) missense probably benign 0.00
R0609:Or2ag1b UTSW 7 106,288,205 (GRCm39) missense probably damaging 1.00
R0655:Or2ag1b UTSW 7 106,288,632 (GRCm39) missense probably damaging 1.00
R1562:Or2ag1b UTSW 7 106,288,187 (GRCm39) missense probably benign 0.01
R1641:Or2ag1b UTSW 7 106,288,918 (GRCm39) missense probably benign 0.36
R2144:Or2ag1b UTSW 7 106,288,164 (GRCm39) missense probably damaging 0.99
R4416:Or2ag1b UTSW 7 106,288,218 (GRCm39) missense probably benign 0.07
R4444:Or2ag1b UTSW 7 106,288,353 (GRCm39) missense possibly damaging 0.60
R4445:Or2ag1b UTSW 7 106,288,353 (GRCm39) missense possibly damaging 0.60
R4567:Or2ag1b UTSW 7 106,288,420 (GRCm39) nonsense probably null
R4739:Or2ag1b UTSW 7 106,288,351 (GRCm39) nonsense probably null
R4908:Or2ag1b UTSW 7 106,288,740 (GRCm39) missense probably damaging 1.00
R5244:Or2ag1b UTSW 7 106,288,396 (GRCm39) missense probably benign 0.12
R5944:Or2ag1b UTSW 7 106,288,853 (GRCm39) nonsense probably null
R6260:Or2ag1b UTSW 7 106,288,079 (GRCm39) missense probably damaging 1.00
R6573:Or2ag1b UTSW 7 106,288,670 (GRCm39) missense probably benign 0.00
R6901:Or2ag1b UTSW 7 106,288,396 (GRCm39) missense probably benign 0.03
R7230:Or2ag1b UTSW 7 106,288,731 (GRCm39) missense possibly damaging 0.94
R7420:Or2ag1b UTSW 7 106,288,227 (GRCm39) missense possibly damaging 0.74
R7426:Or2ag1b UTSW 7 106,288,417 (GRCm39) missense possibly damaging 0.88
R8400:Or2ag1b UTSW 7 106,288,876 (GRCm39) missense probably benign 0.25
R8879:Or2ag1b UTSW 7 106,288,296 (GRCm39) missense probably damaging 1.00
R9284:Or2ag1b UTSW 7 106,288,416 (GRCm39) missense possibly damaging 0.88
R9304:Or2ag1b UTSW 7 106,288,880 (GRCm39) missense probably benign 0.04
U24488:Or2ag1b UTSW 7 106,288,296 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCTGAAGGGCACATCC -3'
(R):5'- AACCCTTGTTCTTAAGAGGCATACTG -3'

Sequencing Primer
(F):5'- CATCCCCCAAATGAGATAGTGTTATC -3'
(R):5'- GTTCTTAAGAGGCATACTGGGTAAC -3'
Posted On 2015-12-29