Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Or8g18'

238498

Institutional Source

Beutler Lab

Gene Symbol

Or8g18

Ensembl Gene

ENSMUSG00000096109

Gene Name

olfactory receptor family 8 subfamily G member 18

Synonyms

MOR171-41P, Olfr1537-ps1, Olfr144, GA_x6K02T2PVTD-32935684-32934749, MOR171-32P, K4, MOR171-32P, Olfr1537

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39148783-39149727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39149048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 224 (T224I)

Ref Sequence

ENSEMBL: ENSMUSP00000149992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073248] [ENSMUST00000213472]

AlphaFold

P34983

Predicted Effect

probably benign
Transcript: ENSMUST00000073248
AA Change: T227I

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072979
Gene: ENSMUSG00000096109
AA Change: T227I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.4e-51	PFAM
Pfam:7tm_1	44	293	1.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213472
AA Change: T224I

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Or8g18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Or8g18	APN	9	39,148,901 (GRCm39)	missense	probably benign	0.25
IGL01691:Or8g18	APN	9	39,149,315 (GRCm39)	missense	probably benign	0.00
IGL02606:Or8g18	APN	9	39,149,490 (GRCm39)	missense	probably damaging	0.98
IGL02656:Or8g18	APN	9	39,149,456 (GRCm39)	missense	probably benign	0.13
R0133:Or8g18	UTSW	9	39,149,307 (GRCm39)	missense	probably benign	0.00
R0548:Or8g18	UTSW	9	39,149,667 (GRCm39)	missense	probably benign	0.13
R0558:Or8g18	UTSW	9	39,149,496 (GRCm39)	missense	probably damaging	0.96
R0616:Or8g18	UTSW	9	39,148,946 (GRCm39)	missense	probably benign	0.00
R0626:Or8g18	UTSW	9	39,149,162 (GRCm39)	missense	possibly damaging	0.52
R0826:Or8g18	UTSW	9	39,149,725 (GRCm39)	start codon destroyed	probably null	0.00
R0839:Or8g18	UTSW	9	39,149,146 (GRCm39)	missense	possibly damaging	0.51
R1074:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1224:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1226:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1252:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1256:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1355:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1356:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1416:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1499:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1658:Or8g18	UTSW	9	39,149,255 (GRCm39)	missense	probably benign	0.03
R1815:Or8g18	UTSW	9	39,149,286 (GRCm39)	missense	probably benign	0.01
R4178:Or8g18	UTSW	9	39,149,375 (GRCm39)	nonsense	probably null
R5112:Or8g18	UTSW	9	39,149,717 (GRCm39)	start codon destroyed	probably null	0.94
R6251:Or8g18	UTSW	9	39,149,514 (GRCm39)	missense	possibly damaging	0.94
R6850:Or8g18	UTSW	9	39,149,271 (GRCm39)	missense	probably benign	0.01
R7032:Or8g18	UTSW	9	39,148,983 (GRCm39)	missense	possibly damaging	0.73
R7573:Or8g18	UTSW	9	39,148,977 (GRCm39)	missense	probably benign	0.42
R7715:Or8g18	UTSW	9	39,149,174 (GRCm39)	missense	probably damaging	1.00
R7722:Or8g18	UTSW	9	39,148,885 (GRCm39)	nonsense	probably null
R7729:Or8g18	UTSW	9	39,149,546 (GRCm39)	missense	probably benign	0.28
R8710:Or8g18	UTSW	9	39,149,306 (GRCm39)	missense	probably benign	0.00
R9513:Or8g18	UTSW	9	39,149,625 (GRCm39)	missense	probably benign	0.05
R9515:Or8g18	UTSW	9	39,149,625 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCAGGCTGTAGATCAAGGG -3'
(R):5'- CTGGCTTCATGCTTAGGACTC -3'

Sequencing Primer
(F):5'- CTGTAGATCAAGGGGTTCAGC -3'
(R):5'- ATGCTTAGGACTCAGTTCTGC -3'

Posted On

2014-10-02