Mutagenetix > Incidental Mutation

Incidental Mutation 'R4991:Or5m8'

386175

Institutional Source

Beutler Lab

Gene Symbol

Or5m8

Ensembl Gene

ENSMUSG00000043267

Gene Name

olfactory receptor family 5 subfamily M member 8

Synonyms

GA_x6K02T2Q125-47470765-47471775, Olfr1031, MOR200-1

MMRRC Submission

042585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85822163-85823173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85822631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 157 (M157V)

Ref Sequence

ENSEMBL: ENSMUSP00000149225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]

AlphaFold

Q7TR87

Predicted Effect

probably damaging
Transcript: ENSMUST00000050942
AA Change: M157V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: M157V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-55	PFAM
Pfam:7tm_1	40	289	6.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216807
AA Change: M157V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 56,010,922 (GRCm39)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,404,146 (GRCm39)	V369M	probably benign	Het
Als2	T	C	1: 59,246,927 (GRCm39)	K571E	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Asb14	T	C	14: 26,637,015 (GRCm39)	S586P	probably damaging	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Chmp4b	A	G	2: 154,534,545 (GRCm39)	E187G	probably benign	Het
Cox6b2	T	C	7: 4,755,160 (GRCm39)	D38G	probably damaging	Het
Cpm	G	A	10: 117,504,008 (GRCm39)	C138Y	probably damaging	Het
Csmd3	G	T	15: 47,864,874 (GRCm39)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,061,983 (GRCm39)	N506K	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Ebf2	A	T	14: 67,627,106 (GRCm39)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gm19684	A	G	17: 36,438,364 (GRCm39)		probably benign	Het
Gm29106	T	C	1: 118,106,121 (GRCm39)	M37T	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,096,450 (GRCm39)	E252D	probably damaging	Het
Ifitm3	A	T	7: 140,590,372 (GRCm39)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,324,849 (GRCm39)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,130,637 (GRCm39)	D418G	probably benign	Het
Kif1a	T	C	1: 93,006,530 (GRCm39)	T46A	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,932 (GRCm39)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847 (GRCm39)	S348A	probably benign	Het
Mog	T	C	17: 37,328,381 (GRCm39)		probably null	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,878,122 (GRCm39)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,467,835 (GRCm39)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,553,584 (GRCm39)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Or5af2	T	C	11: 58,708,544 (GRCm39)	S237P	probably damaging	Het
Or5b97	T	G	19: 12,878,815 (GRCm39)	T110P	probably damaging	Het
Osgin1	A	G	8: 120,172,028 (GRCm39)	E274G	probably damaging	Het
Otof	G	A	5: 30,551,525 (GRCm39)	R343W	probably damaging	Het
Pcdha9	A	T	18: 37,131,398 (GRCm39)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pira12	T	G	7: 3,898,571 (GRCm39)	Q292H	probably benign	Het
Samd4	A	T	14: 47,311,467 (GRCm39)	S262C	probably damaging	Het
Snap91	T	C	9: 86,672,207 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
St3gal4	A	G	9: 34,964,432 (GRCm39)	V190A	possibly damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Tmem201	A	T	4: 149,812,612 (GRCm39)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,711,644 (GRCm39)	S60P	probably benign	Het
Trpa1	T	C	1: 14,980,970 (GRCm39)	Y144C	probably benign	Het
U90926	G	A	5: 92,357,879 (GRCm39)	P91S	probably benign	Het
Utp20	G	T	10: 88,582,796 (GRCm39)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,260,697 (GRCm39)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,400,338 (GRCm39)	L237S	probably damaging	Het
Washc5	A	G	15: 59,215,929 (GRCm39)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,332,614 (GRCm39)		probably null	Het
Zfp212	G	A	6: 47,903,796 (GRCm39)	R127H	probably damaging	Het
Zfp268	C	A	4: 145,348,904 (GRCm39)	Q114K	probably benign	Het
Zfp740	G	T	15: 102,116,714 (GRCm39)		probably null	Het

Other mutations in Or5m8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Or5m8	APN	2	85,822,730 (GRCm39)	missense	probably damaging	1.00
IGL02475:Or5m8	APN	2	85,822,376 (GRCm39)	missense	probably benign	0.19
IGL03230:Or5m8	APN	2	85,822,583 (GRCm39)	missense	probably benign	0.00
IGL03405:Or5m8	APN	2	85,822,230 (GRCm39)	missense	possibly damaging	0.84
PIT4151001:Or5m8	UTSW	2	85,822,538 (GRCm39)	missense	probably damaging	0.96
PIT4366001:Or5m8	UTSW	2	85,822,385 (GRCm39)	missense	probably damaging	1.00
R0344:Or5m8	UTSW	2	85,822,726 (GRCm39)	nonsense	probably null
R1168:Or5m8	UTSW	2	85,823,028 (GRCm39)	missense	probably damaging	1.00
R1170:Or5m8	UTSW	2	85,823,040 (GRCm39)	missense	probably damaging	1.00
R2345:Or5m8	UTSW	2	85,822,166 (GRCm39)	missense	probably benign	0.01
R2915:Or5m8	UTSW	2	85,822,389 (GRCm39)	missense	probably damaging	1.00
R3498:Or5m8	UTSW	2	85,822,774 (GRCm39)	missense	probably benign	0.43
R4058:Or5m8	UTSW	2	85,822,576 (GRCm39)	missense	possibly damaging	0.87
R4747:Or5m8	UTSW	2	85,822,271 (GRCm39)	missense	probably damaging	1.00
R4859:Or5m8	UTSW	2	85,823,075 (GRCm39)	missense	probably damaging	0.96
R5438:Or5m8	UTSW	2	85,822,925 (GRCm39)	missense	probably damaging	1.00
R6362:Or5m8	UTSW	2	85,822,285 (GRCm39)	missense	probably damaging	1.00
R7458:Or5m8	UTSW	2	85,822,994 (GRCm39)	missense	probably damaging	1.00
R7535:Or5m8	UTSW	2	85,822,245 (GRCm39)	missense	probably benign	0.37
R8807:Or5m8	UTSW	2	85,823,172 (GRCm39)	makesense	probably null
R9130:Or5m8	UTSW	2	85,822,819 (GRCm39)	nonsense	probably null
R9366:Or5m8	UTSW	2	85,822,731 (GRCm39)	missense	possibly damaging	0.88
R9687:Or5m8	UTSW	2	85,822,220 (GRCm39)	missense	probably benign
R9746:Or5m8	UTSW	2	85,823,091 (GRCm39)	missense	probably benign	0.18
R9794:Or5m8	UTSW	2	85,822,464 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGCATGCTTGGTCCAATGTTACC -3'
(R):5'- TCCGCTTGCCTTCTGTAGAG -3'

Sequencing Primer
(F):5'- AATGTTACCTCTTCATTGCATTGG -3'
(R):5'- GCCTTCTGTAGAGCTAATCCTCAG -3'

Posted On

2016-05-10