Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Or4k36'

37662

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

038512-MU

Accession Numbers

Essential gene?

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

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111144362-111156348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111146499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 225 (V225D)

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: V225D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: V225D

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: V225D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: V225D

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: V225D

SMART Domains

Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: V225D

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: V225D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219291
AA Change: V225D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably damaging	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
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
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

PCR Primer
(F):5'- GAAGTGCATCTGGCTCGTTGTGATA -3'
(R):5'- TCAGGAGAGGTGTGATGACTGTGTAAA -3'

Sequencing Primer
(F):5'- CATGCCATGAGTCAACTGATACTG -3'
(R):5'- TGTAAAACACAGCTAGAAACTTGTCC -3'

Posted On

2013-05-23