Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Or2m12'

678267

Institutional Source

Beutler Lab

Gene Symbol

Or2m12

Ensembl Gene

ENSMUSG00000050742

Gene Name

olfactory receptor family 2 subfamily M member 12

Synonyms

MOR279-2, GA_x54KRFPKG5P-15738260-15737319, Olfr164

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19104544-19105491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19105383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 37 (I37F)

Ref Sequence

ENSEMBL: ENSMUSP00000149971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]

AlphaFold

Q8VF87

Predicted Effect

probably damaging
Transcript: ENSMUST00000056727
AA Change: I37F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: I37F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	38	308	8.2e-8	PFAM
Pfam:7tm_1	44	293	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216157
AA Change: I37F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	Het

Other mutations in Or2m12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Or2m12	APN	16	19,105,450 (GRCm39)	missense	probably benign	0.01
IGL01569:Or2m12	APN	16	19,105,410 (GRCm39)	missense	probably benign	0.28
IGL01619:Or2m12	APN	16	19,104,909 (GRCm39)	missense	probably damaging	1.00
IGL02101:Or2m12	APN	16	19,105,363 (GRCm39)	missense	probably benign
IGL02201:Or2m12	APN	16	19,105,212 (GRCm39)	missense	probably benign	0.03
IGL02730:Or2m12	APN	16	19,105,432 (GRCm39)	missense	probably benign	0.00
IGL03228:Or2m12	APN	16	19,105,140 (GRCm39)	missense	probably damaging	1.00
R1566:Or2m12	UTSW	16	19,105,077 (GRCm39)	missense	possibly damaging	0.76
R1817:Or2m12	UTSW	16	19,104,627 (GRCm39)	missense	probably damaging	1.00
R1870:Or2m12	UTSW	16	19,105,357 (GRCm39)	missense	probably damaging	1.00
R1918:Or2m12	UTSW	16	19,105,052 (GRCm39)	missense	probably benign	0.03
R2202:Or2m12	UTSW	16	19,105,047 (GRCm39)	missense	probably benign	0.03
R2265:Or2m12	UTSW	16	19,105,305 (GRCm39)	missense	probably damaging	1.00
R3792:Or2m12	UTSW	16	19,104,696 (GRCm39)	missense	possibly damaging	0.54
R4285:Or2m12	UTSW	16	19,104,714 (GRCm39)	missense	probably damaging	1.00
R4961:Or2m12	UTSW	16	19,104,726 (GRCm39)	missense	probably damaging	1.00
R5022:Or2m12	UTSW	16	19,104,809 (GRCm39)	missense	probably damaging	1.00
R5432:Or2m12	UTSW	16	19,104,839 (GRCm39)	missense	probably benign	0.06
R5827:Or2m12	UTSW	16	19,105,182 (GRCm39)	missense	probably benign	0.24
R6154:Or2m12	UTSW	16	19,105,181 (GRCm39)	missense	probably damaging	0.99
R6188:Or2m12	UTSW	16	19,105,307 (GRCm39)	missense	probably damaging	1.00
R6367:Or2m12	UTSW	16	19,104,822 (GRCm39)	missense	probably damaging	1.00
R8508:Or2m12	UTSW	16	19,105,451 (GRCm39)	missense	probably benign	0.01
R8523:Or2m12	UTSW	16	19,104,851 (GRCm39)	missense	probably benign	0.13
R8953:Or2m12	UTSW	16	19,105,269 (GRCm39)	missense	probably benign	0.27
R9313:Or2m12	UTSW	16	19,105,100 (GRCm39)	missense	probably benign	0.00
R9542:Or2m12	UTSW	16	19,104,943 (GRCm39)	missense	probably benign	0.01
R9651:Or2m12	UTSW	16	19,105,489 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTGGATTCCACAGCCAAC -3'
(R):5'- ACACTGTGTCATTCTAGCTTGGAAG -3'

Sequencing Primer
(F):5'- GGAGATGGACTTGTTTCC -3'
(R):5'- CAATGGAACAACTGGACC -3'

Posted On

2021-08-02