Mutagenetix > Incidental Mutation

Incidental Mutation 'R9405:Or4k36'

711448

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

Accession Numbers

Essential gene?

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

Stock #

R9405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111144362-111156348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111146460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 212 (I212K)

Ref Sequence

ENSEMBL: ENSMUSP00000151980 (fasta)

Gene Model

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

AlphaFold

Q8VGG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082167
AA Change: I212K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: I212K

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

possibly damaging
Transcript: ENSMUST00000213551
AA Change: I212K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219291
AA Change: I212K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,978,506 (GRCm39)	Q277L	probably damaging	Het
Adamts18	A	G	8: 114,430,030 (GRCm39)	V1135A	probably damaging	Het
Apobr	A	G	7: 126,184,704 (GRCm39)	S72G	possibly damaging	Het
Arl13b	T	A	16: 62,632,260 (GRCm39)	Q214L	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Asah2	T	G	19: 31,986,045 (GRCm39)	T542P	possibly damaging	Het
Asns	C	T	6: 7,689,283 (GRCm39)	C73Y	probably damaging	Het
Calhm2	T	A	19: 47,124,108 (GRCm39)	T79S	probably benign	Het
Cd300c2	T	G	11: 114,891,587 (GRCm39)	T96P	probably damaging	Het
Copb1	G	A	7: 113,822,458 (GRCm39)	T757I	possibly damaging	Het
Csmd3	T	A	15: 47,539,187 (GRCm39)	T1517S		Het
Ddx60	T	A	8: 62,425,248 (GRCm39)	L679M	probably benign	Het
Dip2b	A	G	15: 100,093,757 (GRCm39)	K1123R	probably benign	Het
Dnah17	A	G	11: 118,009,737 (GRCm39)	S612P	probably benign	Het
Dnah5	T	A	15: 28,272,306 (GRCm39)	C1037S	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ei24	A	T	9: 36,694,137 (GRCm39)	I244N	possibly damaging	Het
Epb41l4a	C	A	18: 33,943,271 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,398,703 (GRCm39)	M800T	possibly damaging	Het
Fcf1	T	G	12: 85,021,013 (GRCm39)	C98G	probably benign	Het
H2bc3	T	C	13: 23,931,141 (GRCm39)	Y122H	probably benign	Het
Hltf	G	T	3: 20,137,094 (GRCm39)	Q417H	possibly damaging	Het
Hmg20b	T	C	10: 81,185,258 (GRCm39)	S35G	probably benign	Het
Igkv4-57-1	T	G	6: 69,521,525 (GRCm39)	Y59S	probably damaging	Het
Irs2	C	T	8: 11,055,061 (GRCm39)	V1124I	possibly damaging	Het
Kprp	A	G	3: 92,731,560 (GRCm39)	C497R	unknown	Het
Krt15	A	T	11: 100,022,961 (GRCm39)	V418E	probably benign	Het
Lce1e	G	A	3: 92,615,312 (GRCm39)	P12S	unknown	Het
Lsmem1	T	C	12: 40,227,113 (GRCm39)	D124G	probably damaging	Het
Morc3	T	C	16: 93,642,036 (GRCm39)	F85S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,447 (GRCm39)	V204E	possibly damaging	Het
Myo7b	C	T	18: 32,109,356 (GRCm39)	A1172T	probably benign	Het
Nbeal1	T	A	1: 60,349,424 (GRCm39)	I2362N	probably damaging	Het
Nde1	T	G	16: 14,006,255 (GRCm39)	L261R	probably damaging	Het
Neurl1b	A	G	17: 26,658,265 (GRCm39)	D401G	probably benign	Het
Nfkb2	T	C	19: 46,296,839 (GRCm39)	V303A	probably damaging	Het
Nlrc5	C	T	8: 95,199,652 (GRCm39)	P88S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,912 (GRCm39)	I207F	possibly damaging	Het
Or6c203	T	A	10: 129,010,165 (GRCm39)	M242L	probably benign	Het
Pde1c	T	A	6: 56,049,199 (GRCm39)	K705*	probably null	Het
Pear1	A	T	3: 87,659,890 (GRCm39)	F699I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prickle1	A	T	15: 93,400,861 (GRCm39)	L541*	probably null	Het
Prss39	G	A	1: 34,538,344 (GRCm39)	G70S	probably damaging	Het
Prune2	T	G	19: 17,193,708 (GRCm39)	N3065K	probably damaging	Het
Qrfprl	T	A	6: 65,433,078 (GRCm39)	N299K	probably benign	Het
Rdh5	A	C	10: 128,753,937 (GRCm39)	D127E	probably benign	Het
Ryr3	G	A	2: 112,664,612 (GRCm39)	H1580Y	probably damaging	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Scgb3a2	T	A	18: 43,900,129 (GRCm39)	L139Q	possibly damaging	Het
Six1	A	G	12: 73,093,095 (GRCm39)	S36P	probably damaging	Het
Slc30a5	T	C	13: 100,950,416 (GRCm39)	I281V	probably benign	Het
Snai2	T	A	16: 14,524,589 (GRCm39)	Y32N	probably benign	Het
Stat2	T	C	10: 128,114,634 (GRCm39)	S244P	probably damaging	Het
Syne1	A	G	10: 5,152,030 (GRCm39)	I5759T	probably damaging	Het
Tbc1d23	T	C	16: 57,012,985 (GRCm39)	N329S	possibly damaging	Het
Tex2	A	T	11: 106,435,214 (GRCm39)	S737R	unknown	Het
Trav13d-3	G	A	14: 53,270,715 (GRCm39)	R59H	probably benign	Het
Tspan9	C	T	6: 127,944,124 (GRCm39)	A59T	probably benign	Het
Usp53	G	A	3: 122,746,918 (GRCm39)	A349V	probably damaging	Het
Vmn1r188	T	C	13: 22,272,898 (GRCm39)	L284P	probably damaging	Het
Vmn2r85	T	C	10: 130,261,215 (GRCm39)	N374S	probably damaging	Het
Zfp622	A	T	15: 25,985,035 (GRCm39)	I134F	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
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
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
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'- TACAGCAGCATCATGGACAGAC -3'
(R):5'- ACCCAAGTGATGCTGACTG -3'

Sequencing Primer
(F):5'- GGACCATTGGCTTTATACATGC -3'
(R):5'- AAGTGATGCTGACTGGCCAC -3'

Posted On

2022-05-16