Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Or10a49'

472543

Institutional Source

Beutler Lab

Gene Symbol

Or10a49

Ensembl Gene

ENSMUSG00000066240

Gene Name

olfactory receptor family 10 subfamily A member 49

Synonyms

MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108467415-108468359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108467993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 123 (F123I)

Ref Sequence

ENSEMBL: ENSMUSP00000150980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]

AlphaFold

Q7TRU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084753
AA Change: F123I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: F123I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.4e-60	PFAM
Pfam:7tm_1	41	299	4.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207346

Predicted Effect

probably damaging
Transcript: ENSMUST00000216500
AA Change: F123I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.1549

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het

Other mutations in Or10a49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Or10a49	APN	7	108,467,482 (GRCm39)	missense	possibly damaging	0.94
IGL01866:Or10a49	APN	7	108,468,006 (GRCm39)	missense	possibly damaging	0.95
IGL02131:Or10a49	APN	7	108,467,415 (GRCm39)	makesense	probably null
IGL02456:Or10a49	APN	7	108,468,257 (GRCm39)	missense	probably benign	0.19
IGL02604:Or10a49	APN	7	108,467,857 (GRCm39)	missense	probably benign	0.00
IGL02975:Or10a49	APN	7	108,468,062 (GRCm39)	nonsense	probably null
R0084:Or10a49	UTSW	7	108,468,007 (GRCm39)	missense	probably damaging	0.98
R0504:Or10a49	UTSW	7	108,468,057 (GRCm39)	missense	possibly damaging	0.91
R0748:Or10a49	UTSW	7	108,468,357 (GRCm39)	start codon destroyed	probably null	1.00
R1428:Or10a49	UTSW	7	108,468,167 (GRCm39)	missense	probably damaging	0.99
R1907:Or10a49	UTSW	7	108,467,705 (GRCm39)	missense	possibly damaging	0.78
R2292:Or10a49	UTSW	7	108,468,223 (GRCm39)	missense	probably benign	0.05
R3874:Or10a49	UTSW	7	108,468,335 (GRCm39)	missense	probably damaging	0.98
R4091:Or10a49	UTSW	7	108,467,650 (GRCm39)	missense	probably damaging	1.00
R4873:Or10a49	UTSW	7	108,467,993 (GRCm39)	missense	probably damaging	0.99
R5440:Or10a49	UTSW	7	108,467,833 (GRCm39)	missense	probably damaging	1.00
R5920:Or10a49	UTSW	7	108,467,895 (GRCm39)	missense	probably benign
R6723:Or10a49	UTSW	7	108,467,795 (GRCm39)	missense	probably damaging	1.00
R6730:Or10a49	UTSW	7	108,467,780 (GRCm39)	missense	probably benign	0.09
R6892:Or10a49	UTSW	7	108,467,722 (GRCm39)	missense	probably damaging	1.00
R7473:Or10a49	UTSW	7	108,467,476 (GRCm39)	missense	probably damaging	0.98
R8160:Or10a49	UTSW	7	108,467,995 (GRCm39)	missense	possibly damaging	0.74
R8213:Or10a49	UTSW	7	108,467,726 (GRCm39)	missense	probably benign
R8330:Or10a49	UTSW	7	108,468,046 (GRCm39)	missense	probably damaging	1.00
R8913:Or10a49	UTSW	7	108,467,809 (GRCm39)	missense	probably damaging	1.00
R9231:Or10a49	UTSW	7	108,467,840 (GRCm39)	missense	possibly damaging	0.55
R9585:Or10a49	UTSW	7	108,467,552 (GRCm39)	missense	probably benign	0.20
R9664:Or10a49	UTSW	7	108,467,563 (GRCm39)	missense	probably damaging	1.00
R9778:Or10a49	UTSW	7	108,467,698 (GRCm39)	missense	probably damaging	0.98
Z1186:Or10a49	UTSW	7	108,468,143 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

Posted On

2017-04-14