Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Or4k36'

384495

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

042567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111144362-111156348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111146163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 113 (V113E)

Ref Sequence

ENSEMBL: ENSMUSP00000151980 (fasta)

Gene Model

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

AlphaFold

Q8VGG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000082167
AA Change: V113E

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

SMART Domains

Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: V113E

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 damaging
Transcript: ENSMUST00000090328
AA Change: V113E

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

SMART Domains

Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: V113E

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: V113E

SMART Domains

Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: V113E

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 damaging
Transcript: ENSMUST00000213551
AA Change: V113E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219291
AA Change: V113E

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,361 (GRCm39)	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,516,081 (GRCm39)		noncoding transcript	Het
Actl11	A	G	9: 107,807,155 (GRCm39)	T493A	probably benign	Het
Actn1	T	C	12: 80,219,813 (GRCm39)	D686G	probably benign	Het
Adamts1	G	A	16: 85,592,833 (GRCm39)	T525I	probably damaging	Het
Adcy10	T	A	1: 165,384,431 (GRCm39)	L1064H	probably damaging	Het
AI661453	A	T	17: 47,777,324 (GRCm39)		probably benign	Het
Apba1	T	A	19: 23,889,900 (GRCm39)	S433T	probably benign	Het
Arid4b	T	A	13: 14,334,857 (GRCm39)	N355K	probably benign	Het
Bsn	A	T	9: 107,992,377 (GRCm39)	M1125K	probably damaging	Het
C2cd5	A	T	6: 142,958,950 (GRCm39)	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,339,869 (GRCm39)	M805V	probably benign	Het
Cep89	T	G	7: 35,131,977 (GRCm39)	L637R	probably damaging	Het
Col24a1	A	T	3: 145,215,439 (GRCm39)	I1444F	probably benign	Het
Commd4	A	T	9: 57,062,732 (GRCm39)	S175T	probably benign	Het
Coq7	A	G	7: 118,109,340 (GRCm39)	V236A	unknown	Het
Dctn2	C	T	10: 127,112,572 (GRCm39)	R176C	probably damaging	Het
Ddx31	T	C	2: 28,750,782 (GRCm39)	F389L	probably damaging	Het
Dgkz	C	T	2: 91,776,047 (GRCm39)	R72H	probably benign	Het
Dpysl4	A	G	7: 138,670,206 (GRCm39)	D24G	probably damaging	Het
Dydc1	A	G	14: 40,804,295 (GRCm39)	T106A	probably benign	Het
F13b	A	G	1: 139,438,661 (GRCm39)	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,361,957 (GRCm39)	M407V	probably benign	Het
Fzd5	C	A	1: 64,775,171 (GRCm39)	V197L	probably benign	Het
Galnt16	G	T	12: 80,619,103 (GRCm39)	E70*	probably null	Het
Gpr171	A	T	3: 59,005,386 (GRCm39)	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484 (GRCm39)	N763D	probably damaging	Het
Gsta2	A	T	9: 78,244,961 (GRCm39)	M51K	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,521 (GRCm39)		noncoding transcript	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Il18r1	C	T	1: 40,530,224 (GRCm39)	P317L	probably benign	Het
Iscu	T	A	5: 113,915,037 (GRCm39)		probably benign	Het
Kif6	A	G	17: 50,014,647 (GRCm39)	D250G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,570,079 (GRCm39)	C82S	probably damaging	Het
Mob4	C	G	1: 55,190,161 (GRCm39)	L135V	possibly damaging	Het
Mpzl3	T	A	9: 44,973,554 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,588,970 (GRCm39)	D599G	probably damaging	Het
Myo1a	T	C	10: 127,552,178 (GRCm39)	Y766H	probably benign	Het
Myo5b	A	G	18: 74,760,264 (GRCm39)	H260R	probably damaging	Het
Nbea	C	T	3: 55,992,667 (GRCm39)	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216 (GRCm39)	D211V	probably damaging	Het
Nefl	G	T	14: 68,324,212 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 40,976,375 (GRCm39)	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,269,964 (GRCm39)	C797F	probably damaging	Het
Or5p5	A	G	7: 107,413,953 (GRCm39)	Q56R	probably benign	Het
Pde6b	A	G	5: 108,573,130 (GRCm39)	D500G	probably benign	Het
Pgs1	T	C	11: 117,896,719 (GRCm39)		probably null	Het
Polr3b	T	A	10: 84,473,988 (GRCm39)	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,356,616 (GRCm39)	S300T	probably benign	Het
Prl2c2	A	C	13: 13,176,755 (GRCm39)	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,876,709 (GRCm39)		probably benign	Het
Prph2	G	T	17: 47,221,733 (GRCm39)	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427 (GRCm38)	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,925,119 (GRCm39)	T74M	probably damaging	Het
Rexo1	A	T	10: 80,385,527 (GRCm39)	F510L	probably damaging	Het
Rexo2	G	T	9: 48,390,689 (GRCm39)	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,046,209 (GRCm39)	K147R	possibly damaging	Het
Skint6	A	G	4: 112,692,265 (GRCm39)	I1062T	probably benign	Het
Spag16	C	T	1: 70,764,087 (GRCm39)	R636W	probably damaging	Het
Spata16	T	C	3: 26,894,872 (GRCm39)	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,579,423 (GRCm39)	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,299,293 (GRCm39)	S7G	probably benign	Het
Tex9	A	G	9: 72,385,620 (GRCm39)		probably null	Het
Thsd7b	C	A	1: 130,116,309 (GRCm39)	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,319,416 (GRCm39)	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,127,338 (GRCm39)	D303A	probably damaging	Het
Trpm7	A	G	2: 126,665,978 (GRCm39)	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,774,027 (GRCm39)	E245K	probably benign	Het
Vezt	C	T	10: 93,836,212 (GRCm39)		probably null	Het
Zscan20	G	A	4: 128,486,152 (GRCm39)	P183S	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
R1650:Or4k36	UTSW	2	111,146,640 (GRCm39)	missense	probably benign	0.04
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
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

PCR Primer
(F):5'- CTCTACATGATGACTGTGGTAGG -3'
(R):5'- GGTCCACAGAAAGGCAGATC -3'

Sequencing Primer
(F):5'- AGGCAACCTCTTTGTAGTGATATTG -3'
(R):5'- GGCAGATCCAAAATCAGTATCAGTTG -3'

Posted On

2016-04-27