Mutagenetix > Incidental Mutation

Incidental Mutation 'R8936:Or4k2'

680670

Institutional Source

Beutler Lab

Gene Symbol

Or4k2

Ensembl Gene

ENSMUSG00000109835

Gene Name

olfactory receptor family 4 subfamily K member 2

Synonyms

MOR247-1, Olfr730, GA_x6K02T2PMLR-5881670-5880717

MMRRC Submission

068779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R8936 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50423719-50424675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50423999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 225 (I225T)

Ref Sequence

ENSEMBL: ENSMUSP00000145742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]

AlphaFold

E9Q8M3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051453
AA Change: I226T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: I226T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	305	3.4e-44	PFAM
Pfam:7tm_1	42	288	1.2e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205837
AA Change: I225T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,797,101 (GRCm39)	K491E	probably benign	Het
Abcd3	T	C	3: 121,569,117 (GRCm39)	I374V	probably benign	Het
Adam34	G	A	8: 44,104,439 (GRCm39)	T402I	probably benign	Het
Angptl7	G	T	4: 148,581,790 (GRCm39)	H199N	probably benign	Het
Ankrd11	A	G	8: 123,621,840 (GRCm39)	C671R	possibly damaging	Het
Anxa7	G	A	14: 20,521,495 (GRCm39)	P67L	unknown	Het
Ap3d1	T	A	10: 80,547,952 (GRCm39)	Q913H	probably benign	Het
Arhgef37	A	G	18: 61,656,948 (GRCm39)	I39T	probably damaging	Het
Armh4	G	A	14: 50,008,024 (GRCm39)	T483I	probably damaging	Het
C3ar1	T	A	6: 122,828,044 (GRCm39)	T58S	probably damaging	Het
Caap1	A	T	4: 94,389,332 (GRCm39)	L334Q	probably damaging	Het
Ccr1	A	T	9: 123,763,882 (GRCm39)	I216K	probably damaging	Het
Cdh9	T	A	15: 16,831,162 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,921 (GRCm39)	F351S	possibly damaging	Het
Cfap61	A	G	2: 145,791,879 (GRCm39)	D112G	possibly damaging	Het
Cul9	T	A	17: 46,839,528 (GRCm39)	S817C	possibly damaging	Het
Dido1	A	G	2: 180,303,195 (GRCm39)	S1570P	probably benign	Het
Disc1	A	G	8: 125,814,754 (GRCm39)	D206G	probably damaging	Het
Dock5	T	A	14: 68,083,439 (GRCm39)	R157*	probably null	Het
Dpp6	A	G	5: 27,926,140 (GRCm39)	D738G	probably damaging	Het
Enpep	A	G	3: 129,125,884 (GRCm39)	F83L	possibly damaging	Het
F10	G	T	8: 13,095,086 (GRCm39)	W81L	probably damaging	Het
Fam217a	T	C	13: 35,095,147 (GRCm39)	D356G	probably damaging	Het
Fes	T	C	7: 80,031,473 (GRCm39)	E467G	probably damaging	Het
Fignl2	A	T	15: 100,951,339 (GRCm39)	D314E	unknown	Het
Foxh1	T	C	15: 76,552,719 (GRCm39)		probably benign	Het
Gdpd5	T	C	7: 99,109,199 (GRCm39)	L573P	probably benign	Het
Gigyf1	T	A	5: 137,523,469 (GRCm39)	S934T	probably damaging	Het
Gm7356	C	T	17: 14,221,937 (GRCm39)	V31I	probably benign	Het
Hoatz	A	G	9: 51,011,298 (GRCm39)		probably null	Het
Hoxa2	C	A	6: 52,140,517 (GRCm39)	K156N	probably damaging	Het
Ifi203	G	A	1: 173,756,857 (GRCm39)		probably benign	Het
Il5ra	A	T	6: 106,692,604 (GRCm39)	D380E	possibly damaging	Het
Ino80c	C	A	18: 24,254,865 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,163,966 (GRCm39)	W772R	probably benign	Het
Lipo3	G	T	19: 33,557,880 (GRCm39)	Q171K	probably damaging	Het
Mga	A	T	2: 119,794,709 (GRCm39)	T2798S	probably damaging	Het
Msantd5l	A	G	11: 51,145,249 (GRCm39)	S113P	probably damaging	Het
Mybpc1	T	A	10: 88,394,437 (GRCm39)	T297S	probably benign	Het
Myh7	T	G	14: 55,228,440 (GRCm39)	Q222P	probably benign	Het
N4bp2l2	T	C	5: 150,585,362 (GRCm39)	D206G	probably benign	Het
Nacc2	G	C	2: 25,952,216 (GRCm39)	T380S	probably benign	Het
Niban3	T	A	8: 72,060,307 (GRCm39)		probably benign	Het
Nkpd1	T	A	7: 19,255,875 (GRCm39)	D186E	probably damaging	Het
Nol10	A	T	12: 17,466,863 (GRCm39)	E581V	probably benign	Het
Ntrk1	A	T	3: 87,693,366 (GRCm39)	N255K	possibly damaging	Het
Nudt5	T	G	2: 5,869,228 (GRCm39)	D151E	probably benign	Het
Obscn	A	T	11: 58,892,858 (GRCm39)	L6796Q	probably benign	Het
Or10p21	C	T	10: 128,847,802 (GRCm39)	A216V	probably benign	Het
Oxct2b	A	G	4: 123,010,838 (GRCm39)	T253A	probably benign	Het
Patl1	G	A	19: 11,891,725 (GRCm39)	C10Y	probably damaging	Het
Pikfyve	A	G	1: 65,310,427 (GRCm39)	R1905G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,402,312 (GRCm39)	E2228G	possibly damaging	Het
Plcg1	A	G	2: 160,589,986 (GRCm39)	K135E	probably benign	Het
Proz	A	G	8: 13,115,319 (GRCm39)	T112A	probably benign	Het
Prune2	A	G	19: 17,099,199 (GRCm39)	N1568D	probably benign	Het
Rbm4	A	G	19: 4,837,539 (GRCm39)	V431A	probably benign	Het
Rgs19	G	T	2: 181,333,058 (GRCm39)	C40*	probably null	Het
Rimbp3	T	A	16: 17,030,884 (GRCm39)	I1436K	probably benign	Het
Rnps1	T	A	17: 24,641,176 (GRCm39)	M192K	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Slc17a9	G	A	2: 180,380,210 (GRCm39)	V318I	probably benign	Het
Slc5a12	A	G	2: 110,467,455 (GRCm39)	I412V	probably damaging	Het
Smc4	T	A	3: 68,925,491 (GRCm39)	N329K	probably benign	Het
St3gal4	G	A	9: 34,964,723 (GRCm39)	R165W	probably damaging	Het
Strbp	G	A	2: 37,493,949 (GRCm39)	R375*	probably null	Het
Tacc2	A	G	7: 130,228,367 (GRCm39)	N1684S	possibly damaging	Het
Tet1	A	T	10: 62,676,063 (GRCm39)	L671*	probably null	Het
Tex2	C	A	11: 106,458,144 (GRCm39)	E429*	probably null	Het
Tgm4	T	C	9: 122,869,541 (GRCm39)	I40T	possibly damaging	Het
Tmem132d	C	T	5: 127,869,676 (GRCm39)	D553N	probably damaging	Het
Tnks	A	T	8: 35,320,501 (GRCm39)	Y723*	probably null	Het
Tnks1bp1	A	T	2: 84,894,320 (GRCm39)	T1416S	probably benign	Het
Tnxb	T	A	17: 34,904,646 (GRCm39)	L1137Q	probably damaging	Het
Tor4a	A	C	2: 25,085,202 (GRCm39)	C68G	probably damaging	Het
Tubb2b	A	C	13: 34,312,445 (GRCm39)	V116G	probably damaging	Het
Upb1	T	A	10: 75,250,827 (GRCm39)	S99T	probably benign	Het
Vmn1r31	T	A	6: 58,449,083 (GRCm39)	I261F	unknown	Het
Vmn1r53	T	C	6: 90,200,571 (GRCm39)	Y251C	probably benign	Het
Vmn2r58	T	C	7: 41,513,981 (GRCm39)	R221G		Het
Vmn2r88	A	T	14: 51,655,983 (GRCm39)	I740F	possibly damaging	Het
Zfp644	C	T	5: 106,783,503 (GRCm39)	G1015R	probably damaging	Het
Zfy1	T	C	Y: 738,726 (GRCm39)	D160G	unknown	Het
Zscan25	T	A	5: 145,223,200 (GRCm39)	V156E	probably damaging	Het
Zyg11b	A	T	4: 108,109,356 (GRCm39)	F443I		Het

Other mutations in Or4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Or4k2	APN	14	50,424,105 (GRCm39)	missense	probably benign	0.36
IGL02976:Or4k2	APN	14	50,423,889 (GRCm39)	nonsense	probably null
IGL03065:Or4k2	APN	14	50,424,465 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or4k2	APN	14	50,424,461 (GRCm39)	missense	probably damaging	0.98
R0277:Or4k2	UTSW	14	50,423,789 (GRCm39)	missense	probably null	0.06
R1081:Or4k2	UTSW	14	50,424,654 (GRCm39)	missense	probably damaging	1.00
R1189:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R1501:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R2680:Or4k2	UTSW	14	50,424,304 (GRCm39)	nonsense	probably null
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R3415:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3417:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3721:Or4k2	UTSW	14	50,424,137 (GRCm39)	missense	probably damaging	1.00
R4864:Or4k2	UTSW	14	50,424,039 (GRCm39)	missense	probably damaging	0.97
R5037:Or4k2	UTSW	14	50,423,745 (GRCm39)	missense	probably benign	0.00
R5349:Or4k2	UTSW	14	50,424,230 (GRCm39)	nonsense	probably null
R5738:Or4k2	UTSW	14	50,424,105 (GRCm39)	missense	probably benign	0.09
R5779:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R5853:Or4k2	UTSW	14	50,424,326 (GRCm39)	missense	possibly damaging	0.88
R5918:Or4k2	UTSW	14	50,424,425 (GRCm39)	missense	probably benign
R6166:Or4k2	UTSW	14	50,424,225 (GRCm39)	missense	probably benign
R6196:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6218:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6220:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6561:Or4k2	UTSW	14	50,423,775 (GRCm39)	missense	probably damaging	1.00
R6798:Or4k2	UTSW	14	50,424,584 (GRCm39)	missense	probably benign	0.00
R6834:Or4k2	UTSW	14	50,423,940 (GRCm39)	missense	probably benign	0.12
R7174:Or4k2	UTSW	14	50,424,153 (GRCm39)	missense	probably benign	0.00
R7406:Or4k2	UTSW	14	50,424,015 (GRCm39)	missense	probably damaging	0.97
R7592:Or4k2	UTSW	14	50,424,020 (GRCm39)	missense	probably damaging	1.00
R7886:Or4k2	UTSW	14	50,424,021 (GRCm39)	missense	probably damaging	1.00
R8081:Or4k2	UTSW	14	50,423,825 (GRCm39)	missense	probably damaging	1.00
R8280:Or4k2	UTSW	14	50,423,723 (GRCm39)	nonsense	probably null
R8393:Or4k2	UTSW	14	50,424,342 (GRCm39)	nonsense	probably null
R8526:Or4k2	UTSW	14	50,423,719 (GRCm39)	splice site	probably null
R8683:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R9285:Or4k2	UTSW	14	50,424,122 (GRCm39)	missense	probably benign	0.40
X0023:Or4k2	UTSW	14	50,424,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCACTGGGTTCATAATGGGAG -3'
(R):5'- CCATGCATTCAATGAGTCAGGTC -3'

Sequencing Primer
(F):5'- GATACATGGCCCAAAGAAC -3'
(R):5'- CAATGAGTCAGGTCATATTTGCCC -3'

Posted On

2021-08-31