Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Or8k40'

701081

Institutional Source

Beutler Lab

Gene Symbol

Or8k40

Ensembl Gene

ENSMUSG00000075172

Gene Name

olfactory receptor family 8 subfamily K member 40

Synonyms

MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86584139-86585080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86584282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000149968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099875] [ENSMUST00000215991] [ENSMUST00000217043]

AlphaFold

Q8VGA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099875
AA Change: S267P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: S267P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-47	PFAM
Pfam:7tm_1	41	290	7.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215991
AA Change: S267P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217043
AA Change: S267P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.3969

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Klrd1	T	G	6: 129,568,795 (GRCm39)	M1R	probably null	Het
Krtap16-1	A	T	11: 99,876,644 (GRCm39)	C253*	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or14j4	T	C	17: 37,921,408 (GRCm39)	Q78R	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,781,961 (GRCm39)	E126G	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	probably damaging	Het

Other mutations in Or8k40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Or8k40	APN	2	86,584,314 (GRCm39)	missense	probably benign	0.42
IGL01343:Or8k40	APN	2	86,584,843 (GRCm39)	nonsense	probably null
IGL01431:Or8k40	APN	2	86,584,508 (GRCm39)	missense	probably benign	0.12
IGL01771:Or8k40	APN	2	86,584,626 (GRCm39)	missense	probably benign	0.15
IGL03182:Or8k40	APN	2	86,584,366 (GRCm39)	missense	probably damaging	1.00
IGL03229:Or8k40	APN	2	86,584,360 (GRCm39)	missense	probably damaging	1.00
R0126:Or8k40	UTSW	2	86,584,981 (GRCm39)	missense	probably damaging	0.99
R0128:Or8k40	UTSW	2	86,584,231 (GRCm39)	missense	probably benign	0.39
R0130:Or8k40	UTSW	2	86,584,231 (GRCm39)	missense	probably benign	0.39
R1383:Or8k40	UTSW	2	86,584,838 (GRCm39)	missense	possibly damaging	0.80
R2100:Or8k40	UTSW	2	86,584,905 (GRCm39)	missense	possibly damaging	0.80
R2125:Or8k40	UTSW	2	86,584,796 (GRCm39)	missense	probably benign	0.00
R2126:Or8k40	UTSW	2	86,584,796 (GRCm39)	missense	probably benign	0.00
R2249:Or8k40	UTSW	2	86,584,398 (GRCm39)	missense	probably damaging	0.98
R3695:Or8k40	UTSW	2	86,584,215 (GRCm39)	missense	probably damaging	1.00
R3878:Or8k40	UTSW	2	86,584,972 (GRCm39)	missense	probably benign	0.02
R3940:Or8k40	UTSW	2	86,584,275 (GRCm39)	missense	possibly damaging	0.52
R3944:Or8k40	UTSW	2	86,584,525 (GRCm39)	missense	probably benign	0.17
R3975:Or8k40	UTSW	2	86,584,887 (GRCm39)	missense	probably damaging	0.99
R4387:Or8k40	UTSW	2	86,584,464 (GRCm39)	missense	probably benign	0.42
R4623:Or8k40	UTSW	2	86,584,906 (GRCm39)	missense	possibly damaging	0.80
R4740:Or8k40	UTSW	2	86,584,155 (GRCm39)	missense	probably benign	0.00
R6775:Or8k40	UTSW	2	86,584,921 (GRCm39)	missense	probably damaging	1.00
R7002:Or8k40	UTSW	2	86,585,025 (GRCm39)	missense	probably benign	0.01
R7746:Or8k40	UTSW	2	86,584,437 (GRCm39)	missense	probably damaging	1.00
R8296:Or8k40	UTSW	2	86,584,893 (GRCm39)	missense	probably damaging	0.99
R9038:Or8k40	UTSW	2	86,584,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCGACCTCTGTCTGCTTTATG -3'
(R):5'- GTTCACATGCAGAGGAAATCG -3'

Sequencing Primer
(F):5'- GACCTCTGTCTGCTTTATGTACCTTC -3'
(R):5'- CATGCAGAGGAAATCGCATTTATTG -3'

Posted On

2022-03-25