Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Or10a49'

678765

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

068702-MU

Accession Numbers

Essential gene?

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

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108467415-108468359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108467809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 184 (V184E)

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: V184E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: V184E

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: V184E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
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
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'- GCAGATAGGTCATACTGGCC -3'
(R):5'- TCGATTTGCTGCAATCTGCC -3'

Sequencing Primer
(F):5'- CCGTGCCATAGAAGAGGGTGAC -3'
(R):5'- GATTTGCTGCAATCTGCCATCCTC -3'

Posted On

2021-08-02