Mutagenetix > Incidental Mutation

Incidental Mutation 'R7230:Or4k40'

562402

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

045302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111250377-111251294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111251261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 12 (F12I)

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: F12I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: F12I

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: F12I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: F12I

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: F12I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	C	7: 45,766,812 (GRCm39)	D989E	probably benign	Het
Adad1	A	G	3: 37,119,315 (GRCm39)	Y132C	probably damaging	Het
Adam33	A	T	2: 130,895,483 (GRCm39)	C579S	probably damaging	Het
Adam6a	A	C	12: 113,509,202 (GRCm39)	Q525P	probably damaging	Het
Alpk3	C	T	7: 80,743,042 (GRCm39)	P953L	probably damaging	Het
Arb2a	G	A	13: 77,907,591 (GRCm39)	E5K	probably damaging	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Bpgm	A	G	6: 34,464,502 (GRCm39)	E73G	possibly damaging	Het
Cab39	T	A	1: 85,775,880 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,554,809 (GRCm39)	L285P	probably damaging	Het
Ccdc30	T	C	4: 119,196,979 (GRCm39)	E429G	possibly damaging	Het
Cct3	C	T	3: 88,220,567 (GRCm39)	R260W	probably damaging	Het
Chd1	C	A	17: 15,927,199 (GRCm39)		probably null	Het
Cxcr4	T	G	1: 128,517,527 (GRCm39)	T45P	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dlec1	T	G	9: 118,953,606 (GRCm39)		probably null	Het
Dram2	T	G	3: 106,480,294 (GRCm39)	Y202*	probably null	Het
Etl4	C	A	2: 20,802,799 (GRCm39)	T1035K	probably damaging	Het
F5	T	C	1: 164,012,522 (GRCm39)	F479L	probably benign	Het
Frrs1l	C	A	4: 56,972,372 (GRCm39)	G110W	probably damaging	Het
Gpbp1l1	T	A	4: 116,445,807 (GRCm39)	I303N	probably damaging	Het
Grik5	A	G	7: 24,722,495 (GRCm39)	F538S	probably damaging	Het
Hgsnat	C	A	8: 26,444,860 (GRCm39)		probably null	Het
Hs2st1	T	C	3: 144,140,307 (GRCm39)	D338G	probably benign	Het
Impdh1	T	C	6: 29,206,062 (GRCm39)		probably null	Het
Ipo9	T	C	1: 135,334,496 (GRCm39)		probably benign	Het
Kdm4b	T	G	17: 56,676,155 (GRCm39)	L220R	probably damaging	Het
Map1a	T	A	2: 121,131,299 (GRCm39)	F705Y	probably damaging	Het
Med22	C	T	2: 26,798,223 (GRCm39)	D99N	probably benign	Het
Muc6	T	C	7: 141,235,479 (GRCm39)	Y519C	probably damaging	Het
Myt1l	A	G	12: 29,833,873 (GRCm39)	I25M	probably damaging	Het
Ncam1	T	A	9: 49,421,123 (GRCm39)	I731F	probably benign	Het
Nlrp4f	T	A	13: 65,342,715 (GRCm39)	H310L	probably benign	Het
Or2ag1b	A	T	7: 106,288,731 (GRCm39)	M69K	possibly damaging	Het
Or2ag2b	C	A	7: 106,417,386 (GRCm39)	T32K	possibly damaging	Het
Or4f14	T	A	2: 111,742,906 (GRCm39)	Y123F	probably damaging	Het
Prl8a6	T	A	13: 27,617,021 (GRCm39)	Y223F	probably benign	Het
Prss39	A	G	1: 34,541,228 (GRCm39)	D244G	probably damaging	Het
Ptx4	A	T	17: 25,342,077 (GRCm39)	Q184L	possibly damaging	Het
Slc26a1	A	T	5: 108,819,611 (GRCm39)	D545E	probably damaging	Het
Slc7a12	T	C	3: 14,570,441 (GRCm39)	S398P	probably damaging	Het
Slc9a4	T	C	1: 40,639,931 (GRCm39)	V241A	probably damaging	Het
Snw1	T	C	12: 87,511,324 (GRCm39)	D109G	probably damaging	Het
Syne2	T	A	12: 75,980,674 (GRCm39)	I1477K	probably benign	Het
Timd4	A	T	11: 46,701,691 (GRCm39)	Y18F	probably benign	Het
Tmprss2	A	G	16: 97,379,797 (GRCm39)	Y168H	probably benign	Het
Ttn	A	T	2: 76,569,044 (GRCm39)	I27283K	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vasn	C	T	16: 4,467,486 (GRCm39)	R478C	probably benign	Het
Zfp58	A	T	13: 67,640,082 (GRCm39)	C136*	probably null	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
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
R9479:Or4k40	UTSW	2	111,251,013 (GRCm39)	missense	probably damaging	1.00
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'- TGGTTACTGAGCAAAGGCAG -3'
(R):5'- AAATGTGGGCTGGATAAGTTGC -3'

Sequencing Primer
(F):5'- TTACTGAGCAAAGGCAGAAGTC -3'
(R):5'- TCAGGAGTCTTTGGTTCAACTC -3'

Posted On

2019-06-26