Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Or10a3m'

400308

Institutional Source

Beutler Lab

Gene Symbol

Or10a3m

Ensembl Gene

ENSMUSG00000056946

Gene Name

olfactory receptor family 10 subfamily A member 3M

Synonyms

Olfr512, MOR268-3, GA_x6K02T2PBJ9-11043421-11044365

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108312562-108313542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108313424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 276 (L276S)

Ref Sequence

ENSEMBL: ENSMUSP00000147972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074730] [ENSMUST00000209620]

AlphaFold

Q8VFZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074730
AA Change: L288S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074291
Gene: ENSMUSG00000056946
AA Change: L288S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	320	7.8e-62	PFAM
Pfam:7TM_GPCR_Srsx	47	317	2.5e-6	PFAM
Pfam:7tm_1	53	302	2.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209620
AA Change: L276S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.5635

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	probably benign	Het

Other mutations in Or10a3m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01889:Or10a3m	APN	7	108,313,089 (GRCm39)	missense	probably benign	0.02
IGL01912:Or10a3m	APN	7	108,313,465 (GRCm39)	missense	possibly damaging	0.60
IGL02182:Or10a3m	APN	7	108,313,075 (GRCm39)	missense	probably benign	0.02
IGL02409:Or10a3m	APN	7	108,313,366 (GRCm39)	missense	probably benign	0.00
IGL02554:Or10a3m	APN	7	108,312,949 (GRCm39)	missense	possibly damaging	0.94
IGL03210:Or10a3m	APN	7	108,312,775 (GRCm39)	missense	probably damaging	1.00
IGL03373:Or10a3m	APN	7	108,313,339 (GRCm39)	missense	probably damaging	1.00
IGL03400:Or10a3m	APN	7	108,312,733 (GRCm39)	missense	probably benign	0.28
R0092:Or10a3m	UTSW	7	108,313,031 (GRCm39)	missense	probably benign
R0741:Or10a3m	UTSW	7	108,312,811 (GRCm39)	missense	probably benign	0.00
R1515:Or10a3m	UTSW	7	108,313,148 (GRCm39)	missense	possibly damaging	0.94
R1982:Or10a3m	UTSW	7	108,312,902 (GRCm39)	missense	probably damaging	1.00
R2176:Or10a3m	UTSW	7	108,313,339 (GRCm39)	missense	probably damaging	1.00
R3967:Or10a3m	UTSW	7	108,313,060 (GRCm39)	missense	probably benign
R4009:Or10a3m	UTSW	7	108,313,366 (GRCm39)	missense	probably benign	0.00
R4010:Or10a3m	UTSW	7	108,313,366 (GRCm39)	missense	probably benign	0.00
R4011:Or10a3m	UTSW	7	108,313,366 (GRCm39)	missense	probably benign	0.00
R5095:Or10a3m	UTSW	7	108,313,019 (GRCm39)	missense	probably damaging	1.00
R5864:Or10a3m	UTSW	7	108,312,671 (GRCm39)	missense	probably benign
R5926:Or10a3m	UTSW	7	108,312,794 (GRCm39)	missense	probably damaging	1.00
R6295:Or10a3m	UTSW	7	108,312,845 (GRCm39)	missense	probably damaging	0.98
R6528:Or10a3m	UTSW	7	108,312,638 (GRCm39)	missense	probably damaging	1.00
R6624:Or10a3m	UTSW	7	108,312,743 (GRCm39)	missense	possibly damaging	0.50
R8029:Or10a3m	UTSW	7	108,313,037 (GRCm39)	missense	possibly damaging	0.70
R8443:Or10a3m	UTSW	7	108,313,418 (GRCm39)	missense	possibly damaging	0.79
R8737:Or10a3m	UTSW	7	108,312,964 (GRCm39)	missense	probably damaging	1.00
R9415:Or10a3m	UTSW	7	108,313,042 (GRCm39)	missense	probably damaging	1.00
R9622:Or10a3m	UTSW	7	108,312,677 (GRCm39)	missense	probably benign	0.30
X0023:Or10a3m	UTSW	7	108,313,217 (GRCm39)	missense	possibly damaging	0.79
Z1088:Or10a3m	UTSW	7	108,312,745 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCACCATTTTCATTGTCATGG -3'
(R):5'- AAACGTACTCTGTTCTCACCAC -3'

Sequencing Primer
(F):5'- GTCATGGTCCCCTTTCTGTTGATAC -3'
(R):5'- GTTCTCACCACCTTCAAAATCCATAG -3'

Posted On

2016-07-06