Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Or4c107'

249120

Institutional Source

Beutler Lab

Gene Symbol

Or4c107

Ensembl Gene

ENSMUSG00000048226

Gene Name

olfactory receptor family 4 subfamily C member 107

Synonyms

Olfr1212, MOR233-17, GA_x6K02T2Q125-50437014-50437949, MOR233-20

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88788812-88789747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88789380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 190 (N190S)

Ref Sequence

ENSEMBL: ENSMUSP00000149781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055895] [ENSMUST00000215781]

AlphaFold

Q7TR08

Predicted Effect

probably benign
Transcript: ENSMUST00000055895
AA Change: N190S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052837
Gene: ENSMUSG00000048226
AA Change: N190S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.9e-46	PFAM
Pfam:7tm_1	39	286	7.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215781
AA Change: N190S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	Het

Other mutations in Or4c107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Or4c107	APN	2	88,789,110 (GRCm39)	missense	probably damaging	0.98
IGL01398:Or4c107	APN	2	88,789,193 (GRCm39)	missense	probably damaging	1.00
IGL01537:Or4c107	APN	2	88,788,885 (GRCm39)	missense	probably benign	0.00
IGL02197:Or4c107	APN	2	88,789,028 (GRCm39)	missense	probably benign	0.05
IGL02557:Or4c107	APN	2	88,789,025 (GRCm39)	missense	probably benign	0.00
R0276:Or4c107	UTSW	2	88,789,099 (GRCm39)	nonsense	probably null
R0568:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R0699:Or4c107	UTSW	2	88,788,960 (GRCm39)	missense	probably benign	0.31
R1101:Or4c107	UTSW	2	88,789,328 (GRCm39)	missense	possibly damaging	0.60
R1205:Or4c107	UTSW	2	88,788,932 (GRCm39)	missense	probably benign	0.00
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1845:Or4c107	UTSW	2	88,789,211 (GRCm39)	missense	probably damaging	0.99
R2031:Or4c107	UTSW	2	88,789,643 (GRCm39)	missense	probably benign	0.19
R2418:Or4c107	UTSW	2	88,789,380 (GRCm39)	missense	probably benign	0.01
R3781:Or4c107	UTSW	2	88,789,091 (GRCm39)	nonsense	probably null
R4049:Or4c107	UTSW	2	88,789,617 (GRCm39)	missense	probably benign	0.09
R4440:Or4c107	UTSW	2	88,789,685 (GRCm39)	missense	probably benign	0.22
R4583:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4646:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4648:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4674:Or4c107	UTSW	2	88,789,216 (GRCm39)	missense	probably damaging	0.98
R4851:Or4c107	UTSW	2	88,788,930 (GRCm39)	missense	probably damaging	1.00
R4971:Or4c107	UTSW	2	88,788,863 (GRCm39)	missense	probably damaging	1.00
R5610:Or4c107	UTSW	2	88,789,170 (GRCm39)	missense	probably damaging	1.00
R5805:Or4c107	UTSW	2	88,788,985 (GRCm39)	missense	possibly damaging	0.50
R5887:Or4c107	UTSW	2	88,789,098 (GRCm39)	missense	possibly damaging	0.60
R6023:Or4c107	UTSW	2	88,789,059 (GRCm39)	missense	possibly damaging	0.76
R6118:Or4c107	UTSW	2	88,789,462 (GRCm39)	nonsense	probably null
R7490:Or4c107	UTSW	2	88,789,392 (GRCm39)	missense	probably benign	0.00
R7542:Or4c107	UTSW	2	88,789,119 (GRCm39)	missense	probably benign	0.01
R7612:Or4c107	UTSW	2	88,788,849 (GRCm39)	missense	probably damaging	1.00
R7972:Or4c107	UTSW	2	88,789,177 (GRCm39)	nonsense	probably null
R8422:Or4c107	UTSW	2	88,789,341 (GRCm39)	missense	probably benign	0.05
R9111:Or4c107	UTSW	2	88,789,055 (GRCm39)	missense	probably benign	0.00
Z1177:Or4c107	UTSW	2	88,789,721 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTAATATCCATGGCTTATGACC -3'
(R):5'- CACAACAGCAATGTGGGATCC -3'

Sequencing Primer
(F):5'- CCATGGCTTATGACCGATATGTAGC -3'
(R):5'- TCCACAAGTAGAGAGAGCTTTC -3'

Posted On

2014-11-12