Mutagenetix > Incidental Mutation

Incidental Mutation 'R6463:Or2ag16'

517688

Institutional Source

Beutler Lab

Gene Symbol

Or2ag16

Ensembl Gene

ENSMUSG00000059087

Gene Name

olfactory receptor family 2 subfamily AG member 16

Synonyms

MOR283-3, GA_x6K02T2PBJ9-9130754-9129519, Olfr698

MMRRC Submission

045324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106351658-106352593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 106352008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 196 (E196Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074981] [ENSMUST00000214306] [ENSMUST00000216255]

AlphaFold

Q7TRN4

Predicted Effect

probably benign
Transcript: ENSMUST00000074981
AA Change: E196Q

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074509
Gene: ENSMUSG00000059087
AA Change: E196Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.4e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	305	9.8e-8	PFAM
Pfam:7tm_1	41	290	4.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214306
AA Change: E196Q

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215892

Predicted Effect

probably benign
Transcript: ENSMUST00000216255
AA Change: E196Q

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.3297

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

100% (51/51)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938 (GRCm39)	H48L	probably damaging	Het
Aifm3	A	G	16: 17,318,653 (GRCm39)	I185V	probably benign	Het
Asb7	A	T	7: 66,309,984 (GRCm39)	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,239,959 (GRCm39)	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,333 (GRCm39)	L1016*	probably null	Het
Cep63	C	A	9: 102,473,354 (GRCm39)	M504I	probably benign	Het
Chpf2	G	T	5: 24,794,524 (GRCm39)	L231F	probably damaging	Het
Cnot10	T	C	9: 114,454,970 (GRCm39)	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,381,365 (GRCm39)		probably benign	Het
Csl	T	C	10: 99,594,960 (GRCm39)	D35G	probably damaging	Het
Csmd3	T	C	15: 47,539,875 (GRCm39)	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,333,409 (GRCm39)	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,737,525 (GRCm39)		probably null	Het
Dnm1	T	C	2: 32,199,603 (GRCm39)		probably benign	Het
Elfn1	A	G	5: 139,958,040 (GRCm39)	Y348C	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha5	T	A	5: 84,254,569 (GRCm39)	I657F	probably damaging	Het
Fbp1	A	G	13: 63,012,824 (GRCm39)	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,229,481 (GRCm39)	N732S	probably damaging	Het
Itfg1	A	G	8: 86,462,780 (GRCm39)	S448P	probably benign	Het
Itprid1	A	G	6: 55,945,663 (GRCm39)	R795G	probably benign	Het
Izumo2	A	G	7: 44,358,498 (GRCm39)	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921 (GRCm39)	Y24C	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308 (GRCm39)	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,023,407 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Naglu	A	G	11: 100,968,177 (GRCm39)		probably null	Het
Nkx6-1	G	T	5: 101,807,342 (GRCm39)	H347N	probably damaging	Het
Ntpcr	A	G	8: 126,462,843 (GRCm39)	E20G	probably benign	Het
Oas2	T	C	5: 120,873,046 (GRCm39)	R670G	probably null	Het
Or10h1	G	A	17: 33,418,612 (GRCm39)	V197I	probably benign	Het
Or4p8	T	C	2: 88,727,462 (GRCm39)	I160V	probably benign	Het
Phldb2	A	C	16: 45,595,356 (GRCm39)	V902G	probably benign	Het
Rdh7	T	C	10: 127,721,650 (GRCm39)	R209G	probably benign	Het
Slc13a3	A	C	2: 165,287,573 (GRCm39)	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,434,014 (GRCm39)	I275F	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tmx4	T	C	2: 134,462,559 (GRCm39)	Y124C	probably damaging	Het
Trh	A	T	6: 92,219,824 (GRCm39)	M164K	possibly damaging	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Ttll7	G	A	3: 146,637,337 (GRCm39)	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,148,667 (GRCm39)	N100S	probably benign	Het
Ucp3	A	T	7: 100,129,476 (GRCm39)	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,489,435 (GRCm39)	H468L	probably benign	Het
Xaf1	G	A	11: 72,199,464 (GRCm39)	R67H	probably benign	Het
Ypel4	T	C	2: 84,567,087 (GRCm39)		probably benign	Het
Zfp687	A	G	3: 94,918,095 (GRCm39)	I559T	probably damaging	Het

Other mutations in Or2ag16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Or2ag16	APN	7	106,351,653 (GRCm39)	utr 3 prime	probably benign
IGL01901:Or2ag16	APN	7	106,351,752 (GRCm39)	missense	possibly damaging	0.52
IGL01912:Or2ag16	APN	7	106,352,199 (GRCm39)	missense	probably damaging	1.00
IGL01998:Or2ag16	APN	7	106,351,758 (GRCm39)	missense	possibly damaging	0.63
IGL02640:Or2ag16	APN	7	106,352,559 (GRCm39)	missense	probably damaging	1.00
IGL03195:Or2ag16	APN	7	106,351,980 (GRCm39)	missense	probably benign
R0255:Or2ag16	UTSW	7	106,352,196 (GRCm39)	missense	probably benign	0.19
R1104:Or2ag16	UTSW	7	106,351,989 (GRCm39)	missense	probably benign	0.37
R1796:Or2ag16	UTSW	7	106,351,756 (GRCm39)	missense	probably benign	0.02
R1909:Or2ag16	UTSW	7	106,352,202 (GRCm39)	missense	probably benign	0.21
R4133:Or2ag16	UTSW	7	106,352,286 (GRCm39)	missense	probably damaging	0.98
R5194:Or2ag16	UTSW	7	106,352,426 (GRCm39)	missense	probably benign	0.15
R5389:Or2ag16	UTSW	7	106,352,290 (GRCm39)	missense	probably damaging	0.99
R5426:Or2ag16	UTSW	7	106,351,773 (GRCm39)	missense	probably benign
R6162:Or2ag16	UTSW	7	106,352,227 (GRCm39)	missense	probably damaging	1.00
R6643:Or2ag16	UTSW	7	106,351,776 (GRCm39)	missense	probably benign	0.41
R6831:Or2ag16	UTSW	7	106,351,778 (GRCm39)	missense	probably damaging	0.99
R6972:Or2ag16	UTSW	7	106,351,906 (GRCm39)	missense	possibly damaging	0.60
R7392:Or2ag16	UTSW	7	106,352,589 (GRCm39)	missense	possibly damaging	0.69
R7717:Or2ag16	UTSW	7	106,351,843 (GRCm39)	missense	possibly damaging	0.58
R7852:Or2ag16	UTSW	7	106,351,845 (GRCm39)	missense	probably damaging	0.98
R8073:Or2ag16	UTSW	7	106,352,008 (GRCm39)	nonsense	probably null
R8245:Or2ag16	UTSW	7	106,352,374 (GRCm39)	missense	probably benign	0.03
R8698:Or2ag16	UTSW	7	106,352,571 (GRCm39)	missense	probably benign	0.05
R9192:Or2ag16	UTSW	7	106,352,430 (GRCm39)	missense	probably damaging	1.00
R9333:Or2ag16	UTSW	7	106,351,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGGAGTGACAATCGTGTAG -3'
(R):5'- GTCACAAAGTCTGCTGGCTC -3'

Sequencing Primer
(F):5'- CGTGTAGAAAACTGAGCTGATATTG -3'
(R):5'- CAAAGTCTGCTGGCTCATGATAGC -3'

Posted On

2018-05-21