Mutagenetix > Incidental Mutation

Incidental Mutation 'R3912:Or2ag18'

309457

Institutional Source

Beutler Lab

Gene Symbol

Or2ag18

Ensembl Gene

ENSMUSG00000094493

Gene Name

olfactory receptor family 2 subfamily AG member 18

Synonyms

Olfr700, MOR283-4, GA_x6K02T2PBJ9-9184187-9183237

MMRRC Submission

040910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106404717-106405667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106405072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 199 (V199D)

Ref Sequence

ENSEMBL: ENSMUSP00000150320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079936] [ENSMUST00000214840]

AlphaFold

Q8VFM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000079936
AA Change: V199D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078855
Gene: ENSMUSG00000094493
AA Change: V199D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.6e-5	PFAM
Pfam:7tm_1	41	290	3.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209339

Predicted Effect

probably damaging
Transcript: ENSMUST00000214840
AA Change: V199D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,806 (GRCm39)	S305G	probably damaging	Het
Acot12	A	G	13: 91,918,208 (GRCm39)	D167G	probably benign	Het
Adgra1	T	C	7: 139,425,630 (GRCm39)		probably null	Het
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Aopep	G	T	13: 63,304,520 (GRCm39)	E402*	probably null	Het
Atp2c2	A	G	8: 120,448,015 (GRCm39)	K103E	probably damaging	Het
Camkk1	A	G	11: 72,924,642 (GRCm39)	D285G	probably benign	Het
Ccdc158	G	C	5: 92,796,794 (GRCm39)	T514S	possibly damaging	Het
Cdhr5	T	A	7: 140,853,770 (GRCm39)	D210V	probably damaging	Het
Cndp1	C	T	18: 84,650,124 (GRCm39)	D190N	probably benign	Het
Eepd1	C	T	9: 25,394,600 (GRCm39)	T288M	probably damaging	Het
Erbin	G	T	13: 103,998,795 (GRCm39)	T197K	probably benign	Het
Erbin	G	A	13: 104,022,846 (GRCm39)		probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gbp3	C	T	3: 142,272,099 (GRCm39)		probably benign	Het
Gm14326	T	C	2: 177,587,658 (GRCm39)	K446R	probably damaging	Het
Herc2	T	C	7: 55,748,185 (GRCm39)	Y518H	probably damaging	Het
Id2	T	A	12: 25,145,871 (GRCm39)	K47*	probably null	Het
Ilf2	A	G	3: 90,394,367 (GRCm39)	N295S	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Mroh9	C	T	1: 162,893,638 (GRCm39)	C179Y	probably damaging	Het
Mrps18b	C	T	17: 36,221,831 (GRCm39)	V165I	probably benign	Het
Myrip	A	G	9: 120,261,682 (GRCm39)	S432G	probably benign	Het
Nutm2	C	T	13: 50,626,976 (GRCm39)	A377V	possibly damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Pax7	C	A	4: 139,508,209 (GRCm39)	W272L	probably benign	Het
Ppp1r12b	C	T	1: 134,815,056 (GRCm39)	E320K	probably damaging	Het
Prg4	T	C	1: 150,327,619 (GRCm39)	Y278C	probably damaging	Het
Pvr	T	C	7: 19,643,217 (GRCm39)	N339D	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Ryr2	A	G	13: 11,787,313 (GRCm39)	I1020T	probably damaging	Het
Scn4a	T	A	11: 106,211,542 (GRCm39)	I1492F	probably damaging	Het
Sec16a	C	T	2: 26,304,399 (GRCm39)	G2304D	probably damaging	Het
Shisa7	T	A	7: 4,833,239 (GRCm39)	R341*	probably null	Het
Slc19a3	T	A	1: 83,000,424 (GRCm39)	M198L	probably benign	Het
Slc26a8	T	A	17: 28,863,753 (GRCm39)	N669Y	possibly damaging	Het
Slco1a7	A	G	6: 141,673,362 (GRCm39)	F392S	probably damaging	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Susd4	A	T	1: 182,715,031 (GRCm39)	Y284F	probably damaging	Het
Tas1r1	A	T	4: 152,116,381 (GRCm39)	Y418N	probably damaging	Het
Tdrd12	A	G	7: 35,187,138 (GRCm39)	I584T	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Vmn1r39	C	T	6: 66,782,125 (GRCm39)	M27I	probably benign	Het
Vmn2r59	T	C	7: 41,695,744 (GRCm39)	T223A	probably benign	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Wnt3a	A	C	11: 59,140,828 (GRCm39)	D229E	possibly damaging	Het

Other mutations in Or2ag18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Or2ag18	APN	7	106,405,642 (GRCm39)	missense	probably benign	0.03
IGL01474:Or2ag18	APN	7	106,405,147 (GRCm39)	missense	probably benign	0.23
IGL01720:Or2ag18	APN	7	106,405,416 (GRCm39)	missense	probably damaging	0.99
R0501:Or2ag18	UTSW	7	106,405,018 (GRCm39)	missense	probably damaging	1.00
R2061:Or2ag18	UTSW	7	106,404,975 (GRCm39)	missense	probably benign	0.00
R2511:Or2ag18	UTSW	7	106,405,168 (GRCm39)	missense	probably damaging	1.00
R2876:Or2ag18	UTSW	7	106,405,204 (GRCm39)	missense	probably benign	0.00
R3816:Or2ag18	UTSW	7	106,405,027 (GRCm39)	missense	probably damaging	1.00
R3910:Or2ag18	UTSW	7	106,405,072 (GRCm39)	missense	probably damaging	1.00
R3911:Or2ag18	UTSW	7	106,405,072 (GRCm39)	missense	probably damaging	1.00
R4855:Or2ag18	UTSW	7	106,405,463 (GRCm39)	missense	probably benign	0.01
R4864:Or2ag18	UTSW	7	106,405,171 (GRCm39)	missense	probably damaging	1.00
R5101:Or2ag18	UTSW	7	106,405,420 (GRCm39)	missense	possibly damaging	0.53
R5335:Or2ag18	UTSW	7	106,404,941 (GRCm39)	missense	probably damaging	1.00
R6217:Or2ag18	UTSW	7	106,405,279 (GRCm39)	missense	probably damaging	1.00
R6880:Or2ag18	UTSW	7	106,405,019 (GRCm39)	missense	probably damaging	1.00
R7522:Or2ag18	UTSW	7	106,404,994 (GRCm39)	missense	probably damaging	0.99
R8260:Or2ag18	UTSW	7	106,405,234 (GRCm39)	missense	possibly damaging	0.95
R9086:Or2ag18	UTSW	7	106,405,126 (GRCm39)	missense	probably benign	0.07
R9224:Or2ag18	UTSW	7	106,405,489 (GRCm39)	missense	probably damaging	1.00
R9294:Or2ag18	UTSW	7	106,405,605 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGAGCTGGGGTGACAATTG -3'
(R):5'- AACCTAGGATCTGCTGGCTTG -3'

Sequencing Primer
(F):5'- CTGGGGTGACAATTGTGTAGAAAAC -3'
(R):5'- GGAGTGTTCATATCATGGACCC -3'

Posted On

2015-04-17