Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Or4k40'

161521

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

039497-MU

Accession Numbers

Essential gene?

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

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111250377-111251294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111250438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 286 (I286N)

Ref Sequence

ENSEMBL: ENSMUSP00000148932 (fasta)

Gene Model

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

AlphaFold

Q7TQY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099617
AA Change: I286N

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

SMART Domains

Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: I286N

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: I286N

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

SMART Domains

Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: I286N

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: I286N

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

Meta Mutation Damage Score

0.4477

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably 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
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
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'- GCTTCTTCACATTGGGCACAATGAC -3'
(R):5'- AGCCCTATCTACATGCACATCCCATATC -3'

Sequencing Primer
(F):5'- AGCCTAGTGATTTCACAGGTTTAGAG -3'
(R):5'- ATGCACATCCCATATCATAGTGGTTC -3'

Posted On

2014-03-14