Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Or2ag15'

508556

Institutional Source

Beutler Lab

Gene Symbol

Or2ag15

Ensembl Gene

ENSMUSG00000051591

Gene Name

olfactory receptor family 2 subfamily AG member 15

Synonyms

GA_x6K02T2PBJ9-9119301-9118348, Olfr697, MOR283-5

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106340112-106341163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106340613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 176 (H176R)

Ref Sequence

ENSEMBL: ENSMUSP00000152039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050541] [ENSMUST00000217734]

AlphaFold

Q8VFM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050541
AA Change: H176R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055207
Gene: ENSMUSG00000051591
AA Change: H176R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4.7e-7	PFAM
Pfam:7tm_1	41	290	8.7e-26	PFAM
Pfam:7TM_GPCR_Srx	69	306	4.3e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217734
AA Change: H176R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Or2ag15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Or2ag15	APN	7	106,340,908 (GRCm39)	missense	probably benign	0.20
IGL00937:Or2ag15	APN	7	106,340,364 (GRCm39)	missense	probably damaging	1.00
IGL01368:Or2ag15	APN	7	106,340,829 (GRCm39)	missense	probably benign	0.19
IGL01410:Or2ag15	APN	7	106,340,706 (GRCm39)	missense	probably benign	0.19
IGL01415:Or2ag15	APN	7	106,340,706 (GRCm39)	missense	probably benign	0.19
IGL01962:Or2ag15	APN	7	106,340,991 (GRCm39)	missense	probably benign	0.12
IGL02654:Or2ag15	APN	7	106,340,555 (GRCm39)	nonsense	probably null
IGL02903:Or2ag15	APN	7	106,340,917 (GRCm39)	missense	probably damaging	1.00
IGL03347:Or2ag15	APN	7	106,340,177 (GRCm39)	utr 3 prime	probably benign
IGL03391:Or2ag15	APN	7	106,340,962 (GRCm39)	missense	probably damaging	1.00
R0139:Or2ag15	UTSW	7	106,340,832 (GRCm39)	missense	probably benign	0.05
R0142:Or2ag15	UTSW	7	106,340,972 (GRCm39)	missense	probably benign	0.36
R1293:Or2ag15	UTSW	7	106,341,058 (GRCm39)	missense	probably damaging	0.98
R1522:Or2ag15	UTSW	7	106,340,212 (GRCm39)	missense	probably benign	0.03
R1715:Or2ag15	UTSW	7	106,340,755 (GRCm39)	missense	probably damaging	1.00
R1959:Or2ag15	UTSW	7	106,340,601 (GRCm39)	missense	probably damaging	1.00
R1960:Or2ag15	UTSW	7	106,340,601 (GRCm39)	missense	probably damaging	1.00
R2031:Or2ag15	UTSW	7	106,341,105 (GRCm39)	missense	probably damaging	1.00
R4790:Or2ag15	UTSW	7	106,340,998 (GRCm39)	missense	probably benign	0.05
R5550:Or2ag15	UTSW	7	106,340,340 (GRCm39)	missense	probably benign	0.01
R6232:Or2ag15	UTSW	7	106,340,761 (GRCm39)	missense	probably damaging	0.96
R6643:Or2ag15	UTSW	7	106,340,911 (GRCm39)	missense	probably benign	0.06
R7831:Or2ag15	UTSW	7	106,340,620 (GRCm39)	missense	probably damaging	0.99
R8013:Or2ag15	UTSW	7	106,340,824 (GRCm39)	missense	probably benign	0.00
R8014:Or2ag15	UTSW	7	106,340,824 (GRCm39)	missense	probably benign	0.00
R8883:Or2ag15	UTSW	7	106,340,274 (GRCm39)	missense	possibly damaging	0.74
R9072:Or2ag15	UTSW	7	106,340,759 (GRCm39)	nonsense	probably null
RF018:Or2ag15	UTSW	7	106,340,692 (GRCm39)	missense	probably benign	0.02
X0020:Or2ag15	UTSW	7	106,340,343 (GRCm39)	missense	probably damaging	0.97
Z1088:Or2ag15	UTSW	7	106,340,350 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AACAGGTAACAAGGGCTTTCTTC -3'
(R):5'- TGGTGCAGAGGACCTTCTTC -3'

Sequencing Primer
(F):5'- CCTGCTCTCATTTGAAGGCATGTG -3'
(R):5'- CAGAGGACCTTCTTCTGGCTTTTATG -3'

Posted On

2018-03-15