Mutagenetix > Incidental Mutation

Incidental Mutation 'R6301:Or2m13'

509124

Institutional Source

Beutler Lab

Gene Symbol

Or2m13

Ensembl Gene

ENSMUSG00000050158

Gene Name

olfactory receptor family 2 subfamily M member 13

Synonyms

Olfr165, MOR279-1, GA_x54KRFPKG5P-15855164-15854223

MMRRC Submission

044466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19224994-19241884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19226167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 200 (F200I)

Ref Sequence

ENSEMBL: ENSMUSP00000145668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052516] [ENSMUST00000206110] [ENSMUST00000206410]

AlphaFold

Q8VFA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052516
AA Change: F200I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: F200I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	5.6e-48	PFAM
Pfam:7TM_GPCR_Srsx	36	306	6e-10	PFAM
Pfam:7tm_1	42	291	4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103984

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206110
AA Change: F200I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206410
AA Change: F201I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.2395

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	C	T	4: 144,285,224 (GRCm39)	A138T	probably damaging	Het
Acot10	T	C	15: 20,666,348 (GRCm39)	N131S	probably benign	Het
Agbl5	A	G	5: 31,049,177 (GRCm39)	Y220C	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap3b1	A	T	13: 94,664,803 (GRCm39)	Q914L	unknown	Het
Arhgef25	T	C	10: 127,021,751 (GRCm39)	D216G	possibly damaging	Het
Bcas2	T	A	3: 103,079,187 (GRCm39)		probably benign	Het
Bpifb5	A	C	2: 154,072,139 (GRCm39)	H282P	possibly damaging	Het
Ccdc121rt2	A	T	5: 112,598,334 (GRCm39)	I294F	possibly damaging	Het
Ccdc167	A	G	17: 29,924,556 (GRCm39)	I15T	probably damaging	Het
Cd248	A	G	19: 5,120,009 (GRCm39)	N619S	probably benign	Het
Chrna1	A	G	2: 73,400,828 (GRCm39)	F234S	possibly damaging	Het
Clcc1	T	G	3: 108,580,682 (GRCm39)	M332R	probably damaging	Het
Cmklr1	T	A	5: 113,752,999 (GRCm39)	M1L	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,032 (GRCm39)	M109V	probably benign	Het
Coq2	A	G	5: 100,809,729 (GRCm39)	I18T	possibly damaging	Het
Crybg3	T	C	16: 59,350,701 (GRCm39)	S880G	probably damaging	Het
Cubn	A	G	2: 13,482,889 (GRCm39)	C286R	probably damaging	Het
Defa24	T	C	8: 22,225,299 (GRCm39)	V63A	probably benign	Het
Dnah6	C	T	6: 73,063,200 (GRCm39)	R2634H	probably damaging	Het
Dusp8	T	A	7: 141,636,756 (GRCm39)		probably null	Het
Elac1	T	C	18: 73,871,939 (GRCm39)	D352G	probably damaging	Het
Ermap	A	T	4: 119,042,800 (GRCm39)	V241E	probably damaging	Het
Fgf10	T	A	13: 118,852,047 (GRCm39)	M43K	probably benign	Het
Gabrd	A	G	4: 155,471,724 (GRCm39)	V193A	probably damaging	Het
Hectd4	T	G	5: 121,392,283 (GRCm39)	C182W	possibly damaging	Het
Hook3	C	T	8: 26,524,968 (GRCm39)	W26*	probably null	Het
Kif1a	C	A	1: 92,982,663 (GRCm39)	E714*	probably null	Het
Krt6b	T	C	15: 101,587,386 (GRCm39)	E236G	probably damaging	Het
Large2	A	G	2: 92,199,861 (GRCm39)	L209P	probably damaging	Het
Lats1	A	G	10: 7,578,871 (GRCm39)	N665S	probably benign	Het
Lrrc37	A	T	11: 103,509,756 (GRCm39)		probably benign	Het
Lrrtm3	T	C	10: 63,925,001 (GRCm39)	I55M	probably benign	Het
Ltk	A	G	2: 119,582,238 (GRCm39)	S838P	probably damaging	Het
Ltn1	T	C	16: 87,217,194 (GRCm39)	I348V	probably benign	Het
Mag	T	A	7: 30,600,104 (GRCm39)	S559C	probably damaging	Het
Mink1	A	G	11: 70,503,120 (GRCm39)	H1072R	possibly damaging	Het
Mycbp2	T	A	14: 103,392,862 (GRCm39)	Q833L	probably damaging	Het
Myh4	G	A	11: 67,146,159 (GRCm39)	E1406K	possibly damaging	Het
Npc1	C	T	18: 12,330,302 (GRCm39)	V950I	probably benign	Het
Npl	A	G	1: 153,394,627 (GRCm39)		probably null	Het
Or10w3	A	G	19: 13,703,753 (GRCm39)	I43V	probably benign	Het
Or11g27	T	A	14: 50,771,711 (GRCm39)	F281I	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxsm	A	T	14: 16,242,220 (GRCm38)	I183N	probably damaging	Het
Pde7a	T	C	3: 19,297,327 (GRCm39)	I108V	probably benign	Het
Pgghg	A	T	7: 140,526,289 (GRCm39)	T585S	probably damaging	Het
Pkhd1l1	G	A	15: 44,452,921 (GRCm39)	D3949N	probably damaging	Het
Ralgapa2	A	T	2: 146,169,331 (GRCm39)	H1777Q	possibly damaging	Het
Rela	G	A	19: 5,695,438 (GRCm39)		probably null	Het
Rilpl1	C	A	5: 124,652,602 (GRCm39)	G41W	probably damaging	Het
Rp1	T	C	1: 4,417,477 (GRCm39)	K1212E	probably benign	Het
Sgca	A	C	11: 94,863,393 (GRCm39)	L28V	probably damaging	Het
Ssmem1	A	G	6: 30,519,758 (GRCm39)	R148G	probably damaging	Het
St8sia5	A	T	18: 77,333,836 (GRCm39)	N165Y	probably damaging	Het
Tbl2	A	T	5: 135,188,223 (GRCm39)	H339L	probably benign	Het
Tcof1	G	A	18: 60,961,897 (GRCm39)	P718L	probably damaging	Het
Trim72	A	T	7: 127,603,786 (GRCm39)	E44V	possibly damaging	Het
Try10	T	A	6: 41,332,523 (GRCm39)	S60T	probably benign	Het
Usp31	A	T	7: 121,247,499 (GRCm39)	S1315T	possibly damaging	Het
Xrn2	A	G	2: 146,905,262 (GRCm39)	I856V	probably benign	Het

Other mutations in Or2m13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01355:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01363:Or2m13	APN	16	19,226,333 (GRCm39)	missense	probably benign	0.03
IGL01467:Or2m13	APN	16	19,226,539 (GRCm39)	missense	probably benign	0.24
IGL02267:Or2m13	APN	16	19,225,914 (GRCm39)	missense	possibly damaging	0.80
R1194:Or2m13	UTSW	16	19,225,930 (GRCm39)	missense	possibly damaging	0.75
R1624:Or2m13	UTSW	16	19,226,454 (GRCm39)	missense	probably benign	0.06
R2248:Or2m13	UTSW	16	19,225,944 (GRCm39)	missense	probably damaging	0.98
R4865:Or2m13	UTSW	16	19,226,051 (GRCm39)	missense	probably damaging	0.98
R4988:Or2m13	UTSW	16	19,225,860 (GRCm39)	missense	probably benign	0.00
R5384:Or2m13	UTSW	16	19,226,547 (GRCm39)	missense	probably damaging	1.00
R5858:Or2m13	UTSW	16	19,225,975 (GRCm39)	missense	possibly damaging	0.91
R5997:Or2m13	UTSW	16	19,226,694 (GRCm39)	missense	probably benign	0.10
R6570:Or2m13	UTSW	16	19,226,068 (GRCm39)	missense	probably benign	0.00
R6703:Or2m13	UTSW	16	19,226,122 (GRCm39)	missense	probably benign	0.03
R6953:Or2m13	UTSW	16	19,226,278 (GRCm39)	missense	probably benign	0.04
R7424:Or2m13	UTSW	16	19,225,944 (GRCm39)	missense	probably damaging	0.98
R7975:Or2m13	UTSW	16	19,226,301 (GRCm39)	missense	probably damaging	1.00
R8312:Or2m13	UTSW	16	19,225,987 (GRCm39)	missense	probably benign	0.11
R8880:Or2m13	UTSW	16	19,226,396 (GRCm39)	nonsense	probably null
R9008:Or2m13	UTSW	16	19,226,173 (GRCm39)	missense	probably benign	0.00
R9394:Or2m13	UTSW	16	19,226,019 (GRCm39)	missense	probably benign
R9698:Or2m13	UTSW	16	19,226,342 (GRCm39)	nonsense	probably null
Z1176:Or2m13	UTSW	16	19,226,485 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTGCCCCATAGTATATTAC -3'
(R):5'- GCAATGGCCTATGACCGTTATG -3'

Sequencing Primer
(F):5'- TAGTATATTACCACCACCATGACGTG -3'
(R):5'- AATCTGTAGTCTAATGGCTGCC -3'

Posted On

2018-04-02