Mutagenetix > Incidental Mutation

Incidental Mutation 'R1650:Or4k36'

174159

Institutional Source

Beutler Lab

Gene Symbol

Or4k36

Ensembl Gene

ENSMUSG00000109449

Gene Name

olfactory receptor family 4 subfamily K member 36

Synonyms

GA_x6K02T2Q125-72366920-72367837, Olfr1280, MOR248-1

MMRRC Submission

039686-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R1650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111144362-111156348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111146640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 272 (A272V)

Ref Sequence

ENSEMBL: ENSMUSP00000151980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082167] [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000213551] [ENSMUST00000219291]

AlphaFold

Q8VGG8

Predicted Effect

probably benign
Transcript: ENSMUST00000082167
AA Change: A272V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: A272V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.8e-50	PFAM
Pfam:7tm_1	41	287	9.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090328
AA Change: A272V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: A272V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	3.6e-49	PFAM
Pfam:7tm_1	41	287	3.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204064
AA Change: A272V

SMART Domains

Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: A272V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	298	2.1e-39	PFAM
Pfam:7tm_1	40	286	7.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213551
AA Change: A272V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000219291
AA Change: A272V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.1459

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.0%
20x: 83.4%

Validation Efficiency

99% (86/87)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	G	2: 103,532,747 (GRCm39)	V515G	probably damaging	Het
Ark2c	A	C	18: 77,550,113 (GRCm39)		probably null	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Atp8b1	A	G	18: 64,704,620 (GRCm39)		probably benign	Het
Bag4	T	A	8: 26,267,452 (GRCm39)	Q126L	probably damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cenpn	A	G	8: 117,661,498 (GRCm39)	D199G	probably damaging	Het
Cfhr3	A	G	1: 139,521,564 (GRCm39)		noncoding transcript	Het
Clca3a2	T	A	3: 144,797,973 (GRCm39)	H164L	probably damaging	Het
Col5a1	C	A	2: 27,812,171 (GRCm39)	S84R	unknown	Het
Ctsc	T	A	7: 87,930,634 (GRCm39)	L71*	probably null	Het
Cyp2c70	A	G	19: 40,153,921 (GRCm39)	Y223H	probably benign	Het
Dbt	A	G	3: 116,328,381 (GRCm39)		probably null	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dll4	T	C	2: 119,161,611 (GRCm39)	S398P	probably damaging	Het
Dyrk4	T	C	6: 126,876,792 (GRCm39)	K62E	probably benign	Het
Fgf22	A	T	10: 79,591,023 (GRCm39)	Y24F	probably damaging	Het
Ggt5	A	G	10: 75,440,595 (GRCm39)	R239G	probably benign	Het
Gm11360	C	T	13: 28,140,379 (GRCm39)	A81V	unknown	Het
Htr5b	T	A	1: 121,455,891 (GRCm39)	T10S	probably benign	Het
Igsf10	T	C	3: 59,233,583 (GRCm39)	R1717G	probably damaging	Het
Itsn2	T	A	12: 4,687,767 (GRCm39)	V556D	probably damaging	Het
Kdm3b	T	C	18: 34,942,168 (GRCm39)	V553A	possibly damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lca5l	T	C	16: 95,980,140 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,750,639 (GRCm39)	W171R	probably damaging	Het
Lrp6	T	C	6: 134,445,732 (GRCm39)	Y1027C	probably benign	Het
Macf1	A	T	4: 123,350,393 (GRCm39)	Y1702*	probably null	Het
Mon2	T	C	10: 122,831,682 (GRCm39)	I1675V	probably benign	Het
Mtcl1	T	A	17: 66,692,871 (GRCm39)	K486M	probably damaging	Het
Nek1	A	T	8: 61,489,110 (GRCm39)	H338L	probably benign	Het
Ola1	A	T	2: 72,987,238 (GRCm39)	D131E	possibly damaging	Het
Olr1	T	A	6: 129,484,052 (GRCm39)	M7L	probably benign	Het
Or1f12	T	C	13: 21,721,249 (GRCm39)	N294D	probably damaging	Het
Or5t18	A	T	2: 86,637,091 (GRCm39)	M84K	possibly damaging	Het
Or5w10	C	A	2: 87,375,772 (GRCm39)	V39L	probably benign	Het
Or7g27	T	G	9: 19,249,943 (GRCm39)	F62L	possibly damaging	Het
Or9m2	C	T	2: 87,821,145 (GRCm39)	A230V	probably benign	Het
Pan2	G	A	10: 128,153,768 (GRCm39)	E980K	probably damaging	Het
Pgm1	C	A	4: 99,819,276 (GRCm39)	Q149K	probably benign	Het
Pgm1	A	G	4: 99,819,267 (GRCm39)	K146E	possibly damaging	Het
Phlpp2	T	C	8: 110,660,587 (GRCm39)		probably benign	Het
Plekhs1	G	T	19: 56,459,474 (GRCm39)	G75C	probably damaging	Het
Plin4	G	A	17: 56,411,931 (GRCm39)	T700I	probably damaging	Het
Podxl2	G	A	6: 88,826,901 (GRCm39)	P71L	probably benign	Het
Pot1a	A	T	6: 25,745,964 (GRCm39)	V579D	probably damaging	Het
Poteg	A	G	8: 27,953,813 (GRCm39)	D318G	probably benign	Het
Ppp4r3a	A	T	12: 101,010,878 (GRCm39)	D554E	probably damaging	Het
Proser3	G	A	7: 30,239,751 (GRCm39)	A451V	probably damaging	Het
Shld2	T	A	14: 33,981,574 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,211,366 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,358,300 (GRCm39)	C216F	possibly damaging	Het
Syne2	A	T	12: 75,951,033 (GRCm39)	K395*	probably null	Het
Trim28	G	A	7: 12,764,776 (GRCm39)	G831D	possibly damaging	Het
Tyw1	A	G	5: 130,317,752 (GRCm39)	I434V	possibly damaging	Het
Ubox5	G	A	2: 130,442,345 (GRCm39)	A114V	probably benign	Het
Ubqln3	C	T	7: 103,790,228 (GRCm39)	V621I	possibly damaging	Het
Unc79	A	G	12: 103,079,052 (GRCm39)	D1543G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Wrnip1	C	A	13: 32,989,362 (GRCm39)	H283Q	probably benign	Het
Zan	A	T	5: 137,392,863 (GRCm39)		probably benign	Het
Zcchc10	A	T	11: 53,218,229 (GRCm39)	K1*	probably null	Het
Zfp592	T	A	7: 80,687,848 (GRCm39)	S925T	probably benign	Het

Other mutations in Or4k36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Or4k36	APN	2	111,146,015 (GRCm39)	missense	probably damaging	1.00
IGL01906:Or4k36	APN	2	111,146,246 (GRCm39)	missense	probably damaging	1.00
R0078:Or4k36	UTSW	2	111,146,249 (GRCm39)	missense	probably benign	0.04
R0091:Or4k36	UTSW	2	111,146,518 (GRCm39)	missense	probably benign	0.00
R0295:Or4k36	UTSW	2	111,146,499 (GRCm39)	missense	probably damaging	0.99
R1808:Or4k36	UTSW	2	111,146,343 (GRCm39)	missense	probably benign	0.00
R2120:Or4k36	UTSW	2	111,145,844 (GRCm39)	missense	probably benign	0.02
R3084:Or4k36	UTSW	2	111,146,461 (GRCm39)	missense	probably benign	0.36
R3085:Or4k36	UTSW	2	111,146,461 (GRCm39)	missense	probably benign	0.36
R3086:Or4k36	UTSW	2	111,146,461 (GRCm39)	missense	probably benign	0.36
R3148:Or4k36	UTSW	2	111,146,633 (GRCm39)	missense	possibly damaging	0.93
R4229:Or4k36	UTSW	2	111,146,681 (GRCm39)	missense	probably damaging	1.00
R4258:Or4k36	UTSW	2	111,145,983 (GRCm39)	missense	probably benign
R4908:Or4k36	UTSW	2	111,146,574 (GRCm39)	missense	probably benign	0.09
R4972:Or4k36	UTSW	2	111,146,163 (GRCm39)	missense	probably damaging	1.00
R5051:Or4k36	UTSW	2	111,146,599 (GRCm39)	nonsense	probably null
R5551:Or4k36	UTSW	2	111,145,916 (GRCm39)	missense	possibly damaging	0.52
R7573:Or4k36	UTSW	2	111,146,277 (GRCm39)	missense	probably benign	0.04
R8808:Or4k36	UTSW	2	111,146,239 (GRCm39)	missense	possibly damaging	0.70
R9156:Or4k36	UTSW	2	111,145,827 (GRCm39)	start codon destroyed	probably null	1.00
R9405:Or4k36	UTSW	2	111,146,460 (GRCm39)	missense	possibly damaging	0.53
R9450:Or4k36	UTSW	2	111,146,398 (GRCm39)	missense	probably benign	0.41
R9493:Or4k36	UTSW	2	111,146,288 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-04-24