Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Or2ag13'

369720

Institutional Source

Beutler Lab

Gene Symbol

Or2ag13

Ensembl Gene

ENSMUSG00000108948

Gene Name

olfactory receptor family 2 subfamily AG member 13

Synonyms

Olfr695, GA_x6K02T2PBJ9-9092181-9091234, MOR283-6

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106312939-106315552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106473444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 3 (P3S)

Ref Sequence

ENSEMBL: ENSMUSP00000150853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060879] [ENSMUST00000213721] [ENSMUST00000216009]

AlphaFold

Q8VFM3

Predicted Effect

probably benign
Transcript: ENSMUST00000060879
AA Change: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050694
Gene: ENSMUSG00000109058
AA Change: P3S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.2e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	296	1.8e-6	PFAM
Pfam:7tm_1	41	290	2.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213721
AA Change: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216009
AA Change: P3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217204

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,483,026 (GRCm39)	N327K	probably damaging	Het
Ank2	T	C	3: 126,730,410 (GRCm39)	T675A	probably benign	Het
Arap3	T	C	18: 38,106,296 (GRCm39)	T1516A	probably benign	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
C7	A	G	15: 5,088,887 (GRCm39)	V18A	probably benign	Het
Caap1	A	G	4: 94,389,497 (GRCm39)	V279A	probably benign	Het
Cacnb2	A	G	2: 14,879,591 (GRCm39)	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,713,458 (GRCm39)	S1166P	probably damaging	Het
Chgb	A	T	2: 132,635,219 (GRCm39)	H387L	probably benign	Het
Chp2	G	A	7: 121,820,123 (GRCm39)	R91Q	probably damaging	Het
Chuk	C	A	19: 44,065,686 (GRCm39)	G703*	probably null	Het
Clmn	T	C	12: 104,751,825 (GRCm39)	D210G	probably damaging	Het
Cyp4f18	A	G	8: 72,749,839 (GRCm39)	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,676,483 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,028,256 (GRCm39)	V411D	unknown	Het
Dkk2	C	T	3: 131,879,546 (GRCm39)	A75V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnase2a	T	C	8: 85,636,506 (GRCm39)	V187A	probably benign	Het
Dusp19	A	G	2: 80,461,289 (GRCm39)	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,477 (GRCm39)	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,660 (GRCm39)	M119V	possibly damaging	Het
Ice2	C	T	9: 69,314,400 (GRCm39)	R50C	probably damaging	Het
Ifi208	A	T	1: 173,510,403 (GRCm39)	E186V	probably damaging	Het
Ift122	A	G	6: 115,858,517 (GRCm39)	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223 (GRCm39)	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,365,582 (GRCm39)	C209S	probably benign	Het
Kmt2a	G	A	9: 44,732,553 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 102,980,739 (GRCm39)	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592 (GRCm39)	T247N	probably damaging	Het
Mctp2	T	G	7: 71,909,097 (GRCm39)	Q72P	possibly damaging	Het
Miga1	T	C	3: 151,996,443 (GRCm39)	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,291,641 (GRCm39)	N19K	probably benign	Het
Mylk	G	A	16: 34,715,295 (GRCm39)	R541Q	probably damaging	Het
Nav3	T	C	10: 109,659,413 (GRCm39)	T735A	probably benign	Het
Nlgn1	T	A	3: 25,490,194 (GRCm39)	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,150,233 (GRCm39)	E613D	probably benign	Het
Nuf2	A	G	1: 169,338,037 (GRCm39)	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,240,102 (GRCm39)	V28A	probably benign	Het
Odf2	A	C	2: 29,792,252 (GRCm39)	E155D	possibly damaging	Het
Odr4	A	G	1: 150,250,597 (GRCm39)	C294R	probably damaging	Het
Or8s16	T	C	15: 98,210,561 (GRCm39)	N290S	probably damaging	Het
Otud7a	T	C	7: 63,379,658 (GRCm39)		probably null	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,828,247 (GRCm39)	V232I	probably damaging	Het
Plcb3	A	G	19: 6,940,352 (GRCm39)	I439T	possibly damaging	Het
Rag1	A	G	2: 101,473,861 (GRCm39)	V427A	probably damaging	Het
Ranbp10	A	T	8: 106,552,757 (GRCm39)	C128*	probably null	Het
Rbm8a2	A	G	1: 175,806,024 (GRCm39)	V151A	probably damaging	Het
S100pbp	A	G	4: 129,044,726 (GRCm39)		probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Sgo2b	T	C	8: 64,384,448 (GRCm39)	I183V	probably benign	Het
Slc25a25	A	T	2: 32,310,422 (GRCm39)	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,950,218 (GRCm39)	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,758,009 (GRCm39)	I183F	probably benign	Het
Srrm4	T	A	5: 116,613,249 (GRCm39)	K141N	unknown	Het
Tbc1d20	T	C	2: 152,153,909 (GRCm39)		probably benign	Het
Tdpoz6	C	T	3: 93,599,593 (GRCm39)	V259M	probably benign	Het
Tep1	A	G	14: 51,078,759 (GRCm39)	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,779,933 (GRCm39)	M494T	probably benign	Het
Tox	A	G	4: 6,823,033 (GRCm39)	S95P	probably benign	Het
Tpr	G	A	1: 150,274,359 (GRCm39)	V163I	probably benign	Het
Trpm7	A	G	2: 126,700,412 (GRCm39)	S2P	probably damaging	Het
Ttn	A	G	2: 76,546,429 (GRCm39)	M32328T	probably damaging	Het
Vps39	A	T	2: 120,169,040 (GRCm39)	N289K	probably benign	Het
Xdh	C	T	17: 74,213,210 (GRCm39)	A847T	probably damaging	Het
Xndc1	G	A	7: 101,722,523 (GRCm39)	G63R	probably null	Het
Ythdc2	A	G	18: 45,018,307 (GRCm39)	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,677,864 (GRCm39)	K949N	probably damaging	Het
Zp3r	A	T	1: 130,526,649 (GRCm39)	Y185N	probably damaging	Het

Other mutations in Or2ag13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Or2ag13	APN	7	106,473,460 (GRCm39)	utr 5 prime	probably benign
IGL02143:Or2ag13	APN	7	106,473,180 (GRCm39)	missense	probably benign	0.02
R0492:Or2ag13	UTSW	7	106,473,084 (GRCm39)	missense	probably damaging	1.00
R1816:Or2ag13	UTSW	7	106,472,695 (GRCm39)	nonsense	probably null
R1834:Or2ag13	UTSW	7	106,473,348 (GRCm39)	missense	probably damaging	1.00
R2011:Or2ag13	UTSW	7	106,472,634 (GRCm39)	missense	probably benign	0.03
R3434:Or2ag13	UTSW	7	106,472,976 (GRCm39)	missense	probably benign	0.01
R3842:Or2ag13	UTSW	7	106,473,302 (GRCm39)	missense	probably benign	0.07
R4405:Or2ag13	UTSW	7	106,472,580 (GRCm39)	missense	probably damaging	1.00
R4742:Or2ag13	UTSW	7	106,472,635 (GRCm39)	missense	probably damaging	0.99
R4851:Or2ag13	UTSW	7	106,473,221 (GRCm39)	missense	probably damaging	1.00
R4856:Or2ag13	UTSW	7	106,473,177 (GRCm39)	missense	probably damaging	1.00
R5663:Or2ag13	UTSW	7	106,472,877 (GRCm39)	missense	probably benign	0.43
R5783:Or2ag13	UTSW	7	106,472,541 (GRCm39)	missense	probably damaging	0.97
R6552:Or2ag13	UTSW	7	106,313,850 (GRCm39)	small deletion	probably benign
R6640:Or2ag13	UTSW	7	106,313,247 (GRCm39)	missense	probably damaging	1.00
R6798:Or2ag13	UTSW	7	106,313,402 (GRCm39)	missense	probably damaging	1.00
R7365:Or2ag13	UTSW	7	106,313,171 (GRCm39)	missense	probably benign	0.03
R7496:Or2ag13	UTSW	7	106,313,435 (GRCm39)	missense	probably benign	0.23
R7923:Or2ag13	UTSW	7	106,313,649 (GRCm39)	nonsense	probably null
R9012:Or2ag13	UTSW	7	106,313,115 (GRCm39)	missense	probably benign	0.10
R9572:Or2ag13	UTSW	7	106,313,546 (GRCm39)	missense	probably damaging	1.00
R9596:Or2ag13	UTSW	7	106,313,412 (GRCm39)	missense	probably benign	0.01
R9756:Or2ag13	UTSW	7	106,313,002 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTACATGAAGACGGGCATC -3'
(R):5'- GAAGTAGACTTTGACCAGCAAC -3'

Sequencing Primer
(F):5'- ACGGGCATCCATGGTGATGAC -3'
(R):5'- GACTTTGACCAGCAACAAATAAAGTC -3'

Posted On

2016-02-04