Mutagenetix > Incidental Mutation

Incidental Mutation 'R9479:Or4k40'

716110

Institutional Source

Beutler Lab

Gene Symbol

Or4k40

Ensembl Gene

ENSMUSG00000096703

Gene Name

olfactory receptor family 4 subfamily K member 40

Synonyms

MOR248-21, Olfr1286, GA_x6K02T2Q125-72472405-72471488

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111250377-111251294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111251013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 94 (F94L)

Ref Sequence

ENSEMBL: ENSMUSP00000144852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099617] [ENSMUST00000184954] [ENSMUST00000213210]

AlphaFold

Q7TQY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099617
AA Change: F94L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: F94L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.4e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	301	3.4e-7	PFAM
Pfam:7tm_1	41	287	1.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184954
AA Change: F94L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: F94L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	264	7.6e-38	PFAM
Pfam:7tm_1	5	251	7.2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213210
AA Change: F94L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	A	G	1: 58,177,568 (GRCm39)	Y261C	probably benign	Het
Arhgef10	T	C	8: 15,047,632 (GRCm39)	V1165A	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bhmt2	G	A	13: 93,799,833 (GRCm39)	A201V	probably damaging	Het
Ccdc115	A	T	1: 34,476,895 (GRCm39)	S115T	possibly damaging	Het
Clca4b	A	G	3: 144,617,100 (GRCm39)	V850A	probably benign	Het
Commd8	A	T	5: 72,318,350 (GRCm39)	H144Q	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,262 (GRCm39)	K701E	unknown	Het
Cyb5d2	A	G	11: 72,669,702 (GRCm39)	C219R		Het
Ep400	T	C	5: 110,877,730 (GRCm39)	T835A	unknown	Het
Fam169a	A	G	13: 97,246,543 (GRCm39)	Y228C	possibly damaging	Het
Fam169a	A	G	13: 97,250,695 (GRCm39)	D342G	possibly damaging	Het
Fbxw21	A	T	9: 108,968,612 (GRCm39)	C455S	probably benign	Het
Fbxw26	A	G	9: 109,561,625 (GRCm39)	S190P	probably damaging	Het
Gabra5	A	G	7: 57,058,440 (GRCm39)	I436T		Het
Gm9767	G	A	10: 25,954,916 (GRCm39)	G156D		Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsn	T	C	2: 35,186,227 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,396,204 (GRCm39)	S17P	probably benign	Het
Hspa1l	A	G	17: 35,196,735 (GRCm39)	N258S	probably benign	Het
Isyna1	C	T	8: 71,048,193 (GRCm39)	R200C	probably damaging	Het
Itgb2	A	T	10: 77,396,942 (GRCm39)	K659M	probably benign	Het
Klf11	T	C	12: 24,705,029 (GRCm39)	M161T	probably benign	Het
Ktn1	A	T	14: 47,962,174 (GRCm39)	K1114N	probably damaging	Het
Lonrf1	G	A	8: 36,697,668 (GRCm39)	R439*	probably null	Het
Lrrc26	C	T	2: 25,180,571 (GRCm39)	P191S	probably benign	Het
Ogdh	T	C	11: 6,297,854 (GRCm39)	I576T	possibly damaging	Het
Or10al4	T	C	17: 38,036,986 (GRCm39)	S24P	probably damaging	Het
Or14c45	T	C	7: 86,176,285 (GRCm39)	C107R	possibly damaging	Het
Or14j4	A	G	17: 37,920,718 (GRCm39)	F308S	probably damaging	Het
Or4p20	T	C	2: 88,253,677 (GRCm39)	R231G	probably damaging	Het
Or7g20	G	A	9: 18,946,730 (GRCm39)	V104I	probably benign	Het
Pcnt	A	G	10: 76,217,963 (GRCm39)	V2104A	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pgap1	G	A	1: 54,582,275 (GRCm39)	Q191*	probably null	Het
Pglyrp3	A	G	3: 91,935,310 (GRCm39)	I187V	probably benign	Het
Pkdrej	T	A	15: 85,699,571 (GRCm39)	I2122F	possibly damaging	Het
Pold1	G	A	7: 44,191,079 (GRCm39)	R251W	probably damaging	Het
Prr22	A	G	17: 57,078,335 (GRCm39)	M163V	probably benign	Het
Ptprc	A	T	1: 138,001,388 (GRCm39)	N814K	probably benign	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rbm22	T	C	18: 60,699,492 (GRCm39)	L147P	probably damaging	Het
Rgsl1	G	A	1: 153,657,445 (GRCm39)	S391F	unknown	Het
Rnf13	A	T	3: 57,727,983 (GRCm39)	D221V	possibly damaging	Het
Senp2	T	A	16: 21,842,398 (GRCm39)	L154Q	probably damaging	Het
Srfbp1	A	G	18: 52,621,332 (GRCm39)	Q131R	possibly damaging	Het
Tmprss11a	A	T	5: 86,562,402 (GRCm39)	Y314*	probably null	Het
Ttn	G	T	2: 76,666,286 (GRCm39)	P11590Q	unknown	Het
Txnrd3	C	T	6: 89,640,084 (GRCm39)	T266M	possibly damaging	Het
Zfp810	T	C	9: 22,194,497 (GRCm39)	S64G	possibly damaging	Het

Other mutations in Or4k40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Or4k40	APN	2	111,251,237 (GRCm39)	missense	probably benign	0.04
IGL01953:Or4k40	APN	2	111,250,657 (GRCm39)	missense	probably benign	0.22
IGL02251:Or4k40	APN	2	111,250,657 (GRCm39)	missense	probably damaging	0.99
IGL02514:Or4k40	APN	2	111,251,117 (GRCm39)	missense	probably damaging	1.00
IGL02868:Or4k40	APN	2	111,250,838 (GRCm39)	missense	possibly damaging	0.55
PIT4403001:Or4k40	UTSW	2	111,251,165 (GRCm39)	missense	probably benign	0.00
R0630:Or4k40	UTSW	2	111,251,191 (GRCm39)	missense	probably damaging	1.00
R1442:Or4k40	UTSW	2	111,250,438 (GRCm39)	missense	probably damaging	1.00
R1712:Or4k40	UTSW	2	111,251,003 (GRCm39)	missense	probably benign	0.22
R2510:Or4k40	UTSW	2	111,250,796 (GRCm39)	missense	possibly damaging	0.74
R4399:Or4k40	UTSW	2	111,251,144 (GRCm39)	missense	probably benign	0.00
R4984:Or4k40	UTSW	2	111,251,192 (GRCm39)	missense	probably damaging	1.00
R5186:Or4k40	UTSW	2	111,251,119 (GRCm39)	missense	probably damaging	1.00
R6044:Or4k40	UTSW	2	111,250,423 (GRCm39)	missense	probably damaging	1.00
R6107:Or4k40	UTSW	2	111,251,000 (GRCm39)	missense	probably benign	0.01
R6372:Or4k40	UTSW	2	111,251,147 (GRCm39)	missense	probably benign	0.12
R7230:Or4k40	UTSW	2	111,251,261 (GRCm39)	missense	probably damaging	1.00
R8464:Or4k40	UTSW	2	111,251,192 (GRCm39)	missense	probably damaging	1.00
R8481:Or4k40	UTSW	2	111,250,994 (GRCm39)	missense	possibly damaging	0.95
R8688:Or4k40	UTSW	2	111,250,958 (GRCm39)	missense	probably benign	0.19
R9072:Or4k40	UTSW	2	111,250,705 (GRCm39)	missense	possibly damaging	0.88
R9073:Or4k40	UTSW	2	111,250,705 (GRCm39)	missense	possibly damaging	0.88
R9629:Or4k40	UTSW	2	111,251,137 (GRCm39)	missense	probably benign
R9682:Or4k40	UTSW	2	111,250,737 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GGTAGATCCAAAATCAAGAGCATCTG -3'
(R):5'- ATCCTCTACCTGATGGCTGTG -3'

Sequencing Primer
(F):5'- GCATCTGACTAATGGCATGC -3'
(R):5'- CTCTACCTGATGGCTGTGGTAGG -3'

Posted On

2022-07-18