Mutagenetix > Incidental Mutation

Incidental Mutation 'R2100:Or8k40'

230408

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

040104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86584139-86585080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86584905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 59 (M59K)

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: M59K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: M59K

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: M59K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217043
AA Change: M59K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,183 (GRCm39)	R1295W	probably damaging	Het
Abca8b	A	T	11: 109,828,608 (GRCm39)	I1430N	probably damaging	Het
Abcb1a	A	G	5: 8,763,202 (GRCm39)	T577A	probably damaging	Het
Arl5b	G	A	2: 15,078,006 (GRCm39)	M101I	probably benign	Het
C1qbp	T	A	11: 70,868,928 (GRCm39)	N278I	probably benign	Het
Cdh1	A	T	8: 107,386,300 (GRCm39)	T408S	possibly damaging	Het
Cfap54	T	A	10: 92,837,799 (GRCm39)	I1034F	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Chil4	T	C	3: 106,121,663 (GRCm39)	K62R	probably benign	Het
Crebl2	A	G	6: 134,828,166 (GRCm39)	T113A	probably benign	Het
Cyp2c69	C	A	19: 39,875,130 (GRCm39)	V8L	probably benign	Het
Dpp6	A	G	5: 27,869,742 (GRCm39)	R447G	probably damaging	Het
Efcab6	A	T	15: 83,777,168 (GRCm39)		probably null	Het
Emilin1	T	G	5: 31,075,241 (GRCm39)	V494G	probably benign	Het
Enoph1	A	G	5: 100,211,645 (GRCm39)	I181V	probably null	Het
F3	T	C	3: 121,526,082 (GRCm39)	V215A	possibly damaging	Het
Fads2b	T	C	2: 85,330,593 (GRCm39)	N238S	probably damaging	Het
Fat3	G	T	9: 16,288,726 (GRCm39)	H266N	possibly damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Garnl3	T	C	2: 32,936,657 (GRCm39)	T171A	probably benign	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Impg2	A	G	16: 56,051,748 (GRCm39)		probably null	Het
Kctd6	T	C	14: 8,222,239 (GRCm38)	L27P	possibly damaging	Het
Kmt2d	G	T	15: 98,744,361 (GRCm39)		probably benign	Het
Kremen1	AGGCGG	AGGCGGCGG	11: 5,151,788 (GRCm39)		probably benign	Het
Lrig2	A	G	3: 104,418,946 (GRCm39)	L21P	possibly damaging	Het
Macf1	G	A	4: 123,291,699 (GRCm39)	Q3284*	probably null	Het
Mnt	A	G	11: 74,722,177 (GRCm39)	E8G	probably damaging	Het
Nbeal1	A	G	1: 60,344,430 (GRCm39)		probably null	Het
Nid2	C	T	14: 19,828,946 (GRCm39)	Q331*	probably null	Het
Nlrx1	A	G	9: 44,173,905 (GRCm39)	L432P	probably damaging	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Nup62	T	C	7: 44,478,921 (GRCm39)		probably benign	Het
Oas2	A	G	5: 120,883,740 (GRCm39)		probably null	Het
Or5b121	A	G	19: 13,507,798 (GRCm39)	I298V	probably benign	Het
Or5p1	A	T	7: 107,916,761 (GRCm39)	Y220F	probably benign	Het
Or5w10	T	A	2: 87,375,169 (GRCm39)	T240S	probably damaging	Het
Or9i14	A	G	19: 13,792,600 (GRCm39)	M118T	possibly damaging	Het
P3h3	T	A	6: 124,822,005 (GRCm39)	T623S	probably damaging	Het
Pkp3	T	C	7: 140,663,205 (GRCm39)	V350A	probably damaging	Het
Plekha3	T	A	2: 76,523,007 (GRCm39)	I225N	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf213	A	T	11: 119,358,128 (GRCm39)	K4292*	probably null	Het
Rtkn	T	C	6: 83,126,541 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Snx10	T	C	6: 51,565,395 (GRCm39)	Y171H	probably damaging	Het
Stx12	A	T	4: 132,587,913 (GRCm39)	I173N	possibly damaging	Het
Thrb	T	A	14: 18,030,393 (GRCm38)	M379K	possibly damaging	Het
Tmem132e	T	A	11: 82,335,357 (GRCm39)	V813E	probably damaging	Het
Tnfsf12	T	C	11: 69,578,175 (GRCm39)	E134G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpbgl	T	A	7: 99,275,651 (GRCm39)	I69F	possibly damaging	Het
Ythdc1	T	A	5: 86,964,544 (GRCm39)	S130T	possibly damaging	Het
Zbp1	A	G	2: 173,051,037 (GRCm39)	S278P	probably damaging	Het
Zfp30	A	G	7: 29,492,951 (GRCm39)	T483A	probably benign	Het
Zfp322a	G	A	13: 23,541,460 (GRCm39)	S94L	possibly damaging	Het
Zfp646	T	G	7: 127,481,359 (GRCm39)	Y1179D	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
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
R9243:Or8k40	UTSW	2	86,584,282 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTTGGGACATGAGGACAGTG -3'
(R):5'- GAAGGAACACAATCTCACAGTAATG -3'

Sequencing Primer
(F):5'- TTACAGATGGCCACATAGCGGTC -3'
(R):5'- GACTGAATTCATCCTAATGGGTATC -3'

Posted On

2014-09-18