Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Or2m13'

541336

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

045065-MU

Accession Numbers

Essential gene?

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

Stock #

R6953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19224994-19241884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19226278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 164 (V164I)

Ref Sequence

ENSEMBL: ENSMUSP00000146100 (fasta)

Gene Model

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

AlphaFold

Q8VFA2

Predicted Effect

probably benign
Transcript: ENSMUST00000052516
AA Change: V163I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: V163I

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

probably benign
Transcript: ENSMUST00000206110
AA Change: V163I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206410
AA Change: V164I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,321,644 (GRCm39)	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ier3ip1	C	G	18: 77,027,309 (GRCm39)	P46R	probably damaging	Het
Ifi211	T	C	1: 173,733,832 (GRCm39)	T110A	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp551	A	T	7: 12,150,715 (GRCm39)	C231*	probably null	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	Het
Zim1	T	A	7: 6,690,706 (GRCm39)	T40S	unknown	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
R6301:Or2m13	UTSW	16	19,226,167 (GRCm39)	missense	possibly damaging	0.96
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
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'- TGGCAAAAGCTTTGTGACGAC -3'
(R):5'- ATGTATCTCTACTTGGAGCTGAGTG -3'

Sequencing Primer
(F):5'- GCAAAAGCTTTGTGACGACTCTCAG -3'
(R):5'- CCTATGACCGTTATGTAGC -3'

Posted On

2018-11-28