Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Or7g18'

24611

Institutional Source

Beutler Lab

Gene Symbol

Or7g18

Ensembl Gene

ENSMUSG00000062868

Gene Name

olfactory receptor family 7 subfamily G member 18

Synonyms

GA_x6K02T2PVTD-12618399-12619337, Olfr830, MOR152-1

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18786256-18787572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18786848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 72 (Y72F)

Ref Sequence

ENSEMBL: ENSMUSP00000148394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078861] [ENSMUST00000212723]

AlphaFold

Q8VFJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000078861
AA Change: Y75F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077903
Gene: ENSMUSG00000062868
AA Change: Y75F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.8e-51	PFAM
Pfam:7tm_1	44	293	1.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212723
AA Change: Y72F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	Het

Other mutations in Or7g18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Or7g18	APN	9	18,787,310 (GRCm39)	nonsense	probably null
IGL00954:Or7g18	APN	9	18,787,369 (GRCm39)	missense	probably benign	0.15
IGL01090:Or7g18	APN	9	18,787,538 (GRCm39)	missense	probably benign	0.00
IGL01613:Or7g18	APN	9	18,786,617 (GRCm39)	splice site	probably benign
IGL01987:Or7g18	APN	9	18,787,003 (GRCm39)	missense	probably benign	0.00
IGL03018:Or7g18	APN	9	18,787,523 (GRCm39)	missense	probably benign	0.15
IGL03037:Or7g18	APN	9	18,786,668 (GRCm39)	missense	probably damaging	0.98
R1322:Or7g18	UTSW	9	18,786,817 (GRCm39)	missense	possibly damaging	0.90
R1715:Or7g18	UTSW	9	18,787,090 (GRCm39)	missense	probably benign	0.06
R1803:Or7g18	UTSW	9	18,787,376 (GRCm39)	missense	probably damaging	1.00
R4360:Or7g18	UTSW	9	18,787,013 (GRCm39)	missense	probably damaging	1.00
R4394:Or7g18	UTSW	9	18,786,907 (GRCm39)	missense	probably damaging	0.98
R4642:Or7g18	UTSW	9	18,787,463 (GRCm39)	missense	probably damaging	1.00
R4796:Or7g18	UTSW	9	18,787,475 (GRCm39)	missense	probably damaging	0.96
R4814:Or7g18	UTSW	9	18,787,213 (GRCm39)	missense	probably benign	0.30
R5210:Or7g18	UTSW	9	18,787,103 (GRCm39)	missense	probably damaging	1.00
R5375:Or7g18	UTSW	9	18,787,442 (GRCm39)	missense	probably benign	0.08
R6072:Or7g18	UTSW	9	18,786,718 (GRCm39)	missense	probably benign
R6361:Or7g18	UTSW	9	18,787,027 (GRCm39)	missense	probably damaging	1.00
R6602:Or7g18	UTSW	9	18,787,145 (GRCm39)	missense	possibly damaging	0.81
R6920:Or7g18	UTSW	9	18,786,821 (GRCm39)	missense	probably damaging	1.00
R7730:Or7g18	UTSW	9	18,786,709 (GRCm39)	missense	probably benign	0.00
R7780:Or7g18	UTSW	9	18,786,910 (GRCm39)	missense	possibly damaging	0.65
R8245:Or7g18	UTSW	9	18,787,126 (GRCm39)	missense	probably benign
R8274:Or7g18	UTSW	9	18,786,795 (GRCm39)	missense	probably benign	0.36
R8920:Or7g18	UTSW	9	18,787,394 (GRCm39)	missense	probably damaging	1.00
R9564:Or7g18	UTSW	9	18,786,640 (GRCm39)	missense	probably benign	0.00
X0026:Or7g18	UTSW	9	18,786,931 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTCACAAATGACCCAGAGCTG -3'
(R):5'- TGTCAGAACAGGCAAGCTTCAGG -3'

Sequencing Primer
(F):5'- TGCAGCCATTCATCTTTGTTC -3'
(R):5'- CAGGCAAGCTTCAGGATTTG -3'

Posted On

2013-04-16