Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Or10a49'

579269

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

045547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108467415-108468359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108467476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 295 (K295M)

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: K295M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: K295M

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

probably damaging
Transcript: ENSMUST00000216500
AA Change: K295M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,965,960 (GRCm39)		probably null	Het
A630095N17Rik	G	A	1: 75,208,675 (GRCm39)	T15I	unknown	Het
Actr1b	A	G	1: 36,748,900 (GRCm39)	V12A	probably benign	Het
Add1	A	G	5: 34,776,697 (GRCm39)	T473A	possibly damaging	Het
Akap11	A	T	14: 78,751,328 (GRCm39)	V353E		Het
Alcam	G	A	16: 52,272,882 (GRCm39)		probably benign	Het
Alpi	A	G	1: 87,027,369 (GRCm39)		probably null	Het
Ap3s2	A	G	7: 79,565,779 (GRCm39)	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,037,886 (GRCm39)	K174E	probably benign	Het
Bbox1	A	T	2: 110,095,843 (GRCm39)	S374T	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp2	T	C	11: 78,157,941 (GRCm39)	S368P	possibly damaging	Het
Bmp2k	A	G	5: 97,204,871 (GRCm39)	N402S	probably benign	Het
Bmper	C	A	9: 23,286,926 (GRCm39)	A284D	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Bpifb2	A	T	2: 153,723,116 (GRCm39)	H124L	possibly damaging	Het
Bsn	C	T	9: 107,989,449 (GRCm39)	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,607,018 (GRCm39)	D67V	probably damaging	Het
Catsperg1	A	G	7: 28,894,903 (GRCm39)	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,779 (GRCm39)	E252K	probably damaging	Het
Cep55	G	A	19: 38,058,384 (GRCm39)	E326K	probably damaging	Het
Cfap58	T	A	19: 47,963,064 (GRCm39)	Y491*	probably null	Het
Cpeb2	T	C	5: 43,434,848 (GRCm39)	S747P		Het
Cryz	T	A	3: 154,312,157 (GRCm39)	S85T	probably benign	Het
D2hgdh	T	C	1: 93,765,800 (GRCm39)	V367A	probably damaging	Het
Dgkh	T	C	14: 78,836,483 (GRCm39)	N703S	probably benign	Het
Dnah11	T	C	12: 117,866,911 (GRCm39)	S4077G	probably benign	Het
Dnah14	A	G	1: 181,579,704 (GRCm39)	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,382,484 (GRCm39)	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,526,370 (GRCm39)	D804G	probably damaging	Het
Ell2	A	G	13: 75,898,154 (GRCm39)	E143G	probably damaging	Het
Exoc2	A	G	13: 31,006,613 (GRCm39)		probably null	Het
Fahd2a	A	T	2: 127,282,376 (GRCm39)	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,460,689 (GRCm39)	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,531,405 (GRCm39)	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,387,990 (GRCm39)	V170I	probably benign	Het
Gcn1	G	A	5: 115,719,863 (GRCm39)	V373M	probably benign	Het
Gm19965	A	G	1: 116,749,602 (GRCm39)	T428A	unknown	Het
Gm4792	A	G	10: 94,129,730 (GRCm39)	I124T	unknown	Het
Grik2	A	T	10: 48,989,618 (GRCm39)	C804S	probably benign	Het
Heatr6	T	A	11: 83,672,217 (GRCm39)	I1075N	probably damaging	Het
Hunk	G	A	16: 90,250,588 (GRCm39)	A211T	probably damaging	Het
Ighe	T	C	12: 113,234,976 (GRCm39)	I395V	probably damaging	Het
Ino80e	A	T	7: 126,456,484 (GRCm39)	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,408,534 (GRCm39)	Y305C	probably benign	Het
Insrr	T	A	3: 87,711,838 (GRCm39)		probably null	Het
Itgae	T	G	11: 73,031,504 (GRCm39)	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,705,141 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,006,630 (GRCm39)	K80M	probably benign	Het
Map2	A	T	1: 66,454,617 (GRCm39)	D1169V	probably damaging	Het
Mpst	G	T	15: 78,297,726 (GRCm39)	C248F	probably damaging	Het
Myo9a	C	A	9: 59,802,527 (GRCm39)	Q2005K	probably benign	Het
Nfatc4	C	T	14: 56,069,421 (GRCm39)	T649I	probably benign	Het
Nmt1	A	G	11: 102,937,226 (GRCm39)	R88G	probably benign	Het
Nqo1	G	A	8: 108,129,729 (GRCm39)		probably benign	Het
Nudt2	T	G	4: 41,477,576 (GRCm39)	M19R	probably benign	Het
Or12d2	T	A	17: 37,624,522 (GRCm39)	Y251F	probably benign	Het
Or9q2	C	T	19: 13,772,526 (GRCm39)	V150M	probably benign	Het
P2ry1	T	A	3: 60,911,509 (GRCm39)	I216N	probably damaging	Het
Pcx	T	A	19: 4,669,589 (GRCm39)	L823*	probably null	Het
Pkhd1	A	G	1: 20,619,980 (GRCm39)	V880A	probably damaging	Het
Plcb1	A	T	2: 135,186,196 (GRCm39)	N721I	probably damaging	Het
Prdm15	T	C	16: 97,623,046 (GRCm39)	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,785,996 (GRCm39)	V224A	possibly damaging	Het
Reln	A	G	5: 22,134,125 (GRCm39)	V2601A	probably benign	Het
Rspo4	G	A	2: 151,714,993 (GRCm39)	R210Q	unknown	Het
Slc7a5	A	T	8: 122,615,162 (GRCm39)	D228E	probably benign	Het
Spopfm2	T	A	3: 94,083,509 (GRCm39)	K101*	probably null	Het
Tas2r115	A	G	6: 132,714,214 (GRCm39)	S246P	probably damaging	Het
Tenm4	A	G	7: 96,423,353 (GRCm39)	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,108,923 (GRCm39)	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,889,841 (GRCm39)	I27T	probably benign	Het
Tigd5	G	A	15: 75,781,748 (GRCm39)	G37S	probably benign	Het
Tmem259	C	T	10: 79,815,506 (GRCm39)	D102N	possibly damaging	Het
Tpo	T	G	12: 30,142,589 (GRCm39)	I712L	probably benign	Het
Ttn	G	A	2: 76,700,892 (GRCm39)	T21M	possibly damaging	Het
Utp20	A	T	10: 88,656,572 (GRCm39)		probably null	Het
Xrcc5	A	G	1: 72,351,748 (GRCm39)	D106G	probably damaging	Het
Xrn1	T	A	9: 95,861,194 (GRCm39)	F451L	probably benign	Het
Zar1l	T	A	5: 150,441,203 (GRCm39)	D141V	probably damaging	Het
Zfp27	A	T	7: 29,595,324 (GRCm39)	C214S	possibly damaging	Het
Znfx1	A	T	2: 166,880,744 (GRCm39)	C1211S	probably damaging	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
R4875: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
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

PCR Primer
(F):5'- TGCCCTTTTCTGAATAAGAACAGAG -3'
(R):5'- AAGGCCTTTTCCACGTGTGC -3'

Sequencing Primer
(F):5'- GTCATGAAGTAAATAACAACAACAGC -3'
(R):5'- ACGTGTGCCTCTCATCTCAC -3'

Posted On

2019-10-07