Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Or8k30'

710133

Institutional Source

Beutler Lab

Gene Symbol

Or8k30

Ensembl Gene

ENSMUSG00000060742

Gene Name

olfactory receptor family 8 subfamily K member 30

Synonyms

MOR189-2, GA_x6K02T2Q125-47993761-47994702, Olfr1076

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86338805-86339746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86338854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 17 (I17T)

Ref Sequence

ENSEMBL: ENSMUSP00000075612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076263]

AlphaFold

A2AK60

Predicted Effect

probably damaging
Transcript: ENSMUST00000076263
AA Change: I17T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: I17T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	4.6e-52	PFAM
Pfam:7tm_1	41	290	5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,661,162 (GRCm39)	E124G		Het
Atp1a2	T	C	1: 172,107,334 (GRCm39)	I729V	probably benign	Het
Ccn2	T	G	10: 24,471,883 (GRCm39)	V58G	possibly damaging	Het
Chd2	T	A	7: 73,098,918 (GRCm39)	E1467V	probably null	Het
Col6a5	T	C	9: 105,803,110 (GRCm39)	D1285G	unknown	Het
Coro7	A	G	16: 4,452,888 (GRCm39)	C287R	probably damaging	Het
Cpa3	T	C	3: 20,283,045 (GRCm39)	E134G	probably benign	Het
Csf3r	C	T	4: 125,937,239 (GRCm39)	P708S	possibly damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	T	7: 119,646,819 (GRCm39)	I1070K	probably benign	Het
Dnm2	G	A	9: 21,383,920 (GRCm39)	V234M	probably damaging	Het
Drg2	T	A	11: 60,350,287 (GRCm39)	M82K	probably benign	Het
Dus2	G	A	8: 106,776,950 (GRCm39)	E312K	probably benign	Het
Efcab6	T	C	15: 83,756,620 (GRCm39)	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Gpnmb	A	G	6: 49,028,918 (GRCm39)	S479G	probably damaging	Het
Gpr153	T	C	4: 152,367,516 (GRCm39)	S456P	probably benign	Het
Gprc5b	A	T	7: 118,575,761 (GRCm39)	M388K	probably damaging	Het
H2-T23	T	C	17: 36,343,227 (GRCm39)	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,684,883 (GRCm39)	E244G	probably damaging	Het
Malrd1	T	A	2: 15,700,012 (GRCm39)	C620S	unknown	Het
Maz	G	A	7: 126,624,083 (GRCm39)	Q358*	probably null	Het
Mcc	A	T	18: 44,575,985 (GRCm39)	I901N	probably benign	Het
Megf11	T	G	9: 64,545,732 (GRCm39)	C172G	probably damaging	Het
Mipol1	A	G	12: 57,352,820 (GRCm39)	Y53C	probably benign	Het
Nectin4	C	T	1: 171,213,251 (GRCm39)	T391I	probably damaging	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,628,918 (GRCm39)		probably null	Het
Nsun4	A	G	4: 115,891,473 (GRCm39)	V302A	probably benign	Het
Odf2	T	A	2: 29,791,249 (GRCm39)	L181H	probably damaging	Het
Opn1sw	A	G	6: 29,378,000 (GRCm39)	S328P	possibly damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,827,742 (GRCm39)	Y712*	probably null	Het
Pkd1	C	T	17: 24,794,900 (GRCm39)	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 110,350,601 (GRCm39)		probably benign	Het
Plekhm2	A	T	4: 141,359,612 (GRCm39)	M385K	probably damaging	Het
Pole	T	C	5: 110,438,892 (GRCm39)	V164A	possibly damaging	Het
Prr19	T	A	7: 25,002,335 (GRCm39)	F11Y	probably damaging	Het
Prtg	G	T	9: 72,757,143 (GRCm39)	L355F	probably benign	Het
Raph1	C	A	1: 60,564,829 (GRCm39)	M219I	unknown	Het
Rtkn2	A	G	10: 67,839,094 (GRCm39)	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,070,131 (GRCm39)	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,889,125 (GRCm39)	K466R	probably benign	Het
Slc43a1	G	A	2: 84,690,506 (GRCm39)	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,227,749 (GRCm39)	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803 (GRCm38)	C585*	probably null	Het
Snx19	A	G	9: 30,347,196 (GRCm39)	E713G	probably damaging	Het
Tiam1	C	T	16: 89,655,561 (GRCm39)	V715M	probably damaging	Het
Tln2	T	A	9: 67,278,043 (GRCm39)	M322L	probably benign	Het
Top2a	G	A	11: 98,901,884 (GRCm39)	R449*	probably null	Het
Trpv4	C	A	5: 114,796,474 (GRCm39)		probably benign	Het
Vmn1r214	A	C	13: 23,219,095 (GRCm39)	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,846,552 (GRCm39)	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,247,009 (GRCm39)	T308A	probably benign	Het
Zfand3	T	A	17: 30,354,479 (GRCm39)	Y99N	probably benign	Het
Zfp119b	T	C	17: 56,246,355 (GRCm39)	Y277C	probably damaging	Het
Zfp345	G	A	2: 150,314,503 (GRCm39)	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,046,926 (GRCm39)	E516G	probably damaging	Het

Other mutations in Or8k30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Or8k30	APN	2	86,339,513 (GRCm39)	missense	possibly damaging	0.91
IGL03157:Or8k30	APN	2	86,339,367 (GRCm39)	missense	possibly damaging	0.95
ANU05:Or8k30	UTSW	2	86,339,513 (GRCm39)	missense	possibly damaging	0.91
IGL02802:Or8k30	UTSW	2	86,339,290 (GRCm39)	missense	probably benign
R0325:Or8k30	UTSW	2	86,339,549 (GRCm39)	missense	probably benign	0.14
R0384:Or8k30	UTSW	2	86,339,727 (GRCm39)	missense	possibly damaging	0.80
R1164:Or8k30	UTSW	2	86,339,028 (GRCm39)	missense	probably damaging	1.00
R1618:Or8k30	UTSW	2	86,339,193 (GRCm39)	missense	probably damaging	1.00
R1915:Or8k30	UTSW	2	86,339,343 (GRCm39)	missense	probably damaging	1.00
R1999:Or8k30	UTSW	2	86,339,089 (GRCm39)	nonsense	probably null
R2093:Or8k30	UTSW	2	86,339,587 (GRCm39)	missense	probably damaging	0.99
R3824:Or8k30	UTSW	2	86,339,367 (GRCm39)	missense	possibly damaging	0.95
R4259:Or8k30	UTSW	2	86,339,343 (GRCm39)	missense	probably damaging	1.00
R4928:Or8k30	UTSW	2	86,339,469 (GRCm39)	missense	probably damaging	1.00
R4981:Or8k30	UTSW	2	86,339,171 (GRCm39)	missense	probably damaging	1.00
R4998:Or8k30	UTSW	2	86,339,699 (GRCm39)	missense	probably benign	0.00
R5783:Or8k30	UTSW	2	86,338,982 (GRCm39)	missense	probably damaging	1.00
R6384:Or8k30	UTSW	2	86,339,381 (GRCm39)	missense	probably benign
R6549:Or8k30	UTSW	2	86,339,726 (GRCm39)	missense	probably benign	0.00
R6893:Or8k30	UTSW	2	86,339,136 (GRCm39)	missense	probably damaging	1.00
R7145:Or8k30	UTSW	2	86,338,872 (GRCm39)	missense	probably damaging	1.00
R7157:Or8k30	UTSW	2	86,339,369 (GRCm39)	missense	probably damaging	0.99
R7555:Or8k30	UTSW	2	86,339,691 (GRCm39)	missense	probably damaging	0.99
R7611:Or8k30	UTSW	2	86,339,397 (GRCm39)	missense	possibly damaging	0.84
R7640:Or8k30	UTSW	2	86,339,287 (GRCm39)	missense	possibly damaging	0.90
R7724:Or8k30	UTSW	2	86,338,949 (GRCm39)	missense	probably damaging	1.00
R7965:Or8k30	UTSW	2	86,338,815 (GRCm39)	missense	probably benign
R8367:Or8k30	UTSW	2	86,339,025 (GRCm39)	missense	probably damaging	0.97
R9432:Or8k30	UTSW	2	86,338,914 (GRCm39)	missense	probably benign	0.06
R9695:Or8k30	UTSW	2	86,339,100 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGCTCTCAATATAGTTAGGAGAAGC -3'
(R):5'- TGAATAACCAAGGTCAGTAGTAGCG -3'

Sequencing Primer
(F):5'- TGATTTAAGTTAATGTTGGACAGGAC -3'
(R):5'- CAAGGTCAGTAGTAGCGAGGTGTC -3'

Posted On

2022-04-18