Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Or4c116'

592739

Institutional Source

Beutler Lab

Gene Symbol

Or4c116

Ensembl Gene

ENSMUSG00000075102

Gene Name

olfactory receptor family 4 subfamily C member 116

Synonyms

Olfr1221, MOR233-3, GA_x6K02T2Q125-50591144-50590209

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88941919-88942854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88941935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 307 (V307G)

Ref Sequence

ENSEMBL: ENSMUSP00000150194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000099806] [ENSMUST00000143255] [ENSMUST00000213288] [ENSMUST00000213404] [ENSMUST00000217635]

AlphaFold

L7MU53

Predicted Effect

probably benign
Transcript: ENSMUST00000099795
AA Change: V307G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: V307G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5.6e-48	PFAM
Pfam:7tm_1	39	302	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099806

SMART Domains

Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-47	PFAM
Pfam:7tm_1	39	286	3.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143255
AA Change: V307G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000213288

Predicted Effect

probably benign
Transcript: ENSMUST00000213404
AA Change: V307G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000217635
AA Change: V307G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Or4c116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Or4c116	APN	2	88,942,023 (GRCm39)	missense	probably benign	0.19
IGL01965:Or4c116	APN	2	88,942,535 (GRCm39)	missense	probably benign	0.37
IGL02645:Or4c116	APN	2	88,941,963 (GRCm39)	missense	probably benign	0.00
G1patch:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
PIT4354001:Or4c116	UTSW	2	88,942,830 (GRCm39)	nonsense	probably null
R0124:Or4c116	UTSW	2	88,942,088 (GRCm39)	missense	possibly damaging	0.56
R0940:Or4c116	UTSW	2	88,942,419 (GRCm39)	missense	probably benign
R3689:Or4c116	UTSW	2	88,942,386 (GRCm39)	missense	possibly damaging	0.85
R4489:Or4c116	UTSW	2	88,941,916 (GRCm39)	splice site	probably null
R4706:Or4c116	UTSW	2	88,942,576 (GRCm39)	missense	probably damaging	0.98
R4707:Or4c116	UTSW	2	88,942,576 (GRCm39)	missense	probably damaging	0.98
R5133:Or4c116	UTSW	2	88,942,140 (GRCm39)	splice site	probably null
R6629:Or4c116	UTSW	2	88,942,506 (GRCm39)	missense	probably benign	0.09
R6644:Or4c116	UTSW	2	88,942,325 (GRCm39)	missense	probably benign	0.00
R6723:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
R6725:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
R6754:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
R6765:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
R6766:Or4c116	UTSW	2	88,942,640 (GRCm39)	missense	possibly damaging	0.81
R7215:Or4c116	UTSW	2	88,942,845 (GRCm39)	nonsense	probably null
R7562:Or4c116	UTSW	2	88,942,629 (GRCm39)	missense	probably benign	0.00
R7981:Or4c116	UTSW	2	88,942,400 (GRCm39)	missense	probably damaging	1.00
R8318:Or4c116	UTSW	2	88,942,242 (GRCm39)	missense	probably benign	0.02
R8425:Or4c116	UTSW	2	88,942,737 (GRCm39)	missense	probably damaging	1.00
R8788:Or4c116	UTSW	2	88,942,626 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATTGAATTTGCAGTTTGTCAAGCC -3'
(R):5'- GTGGGTCCCATATTACAGTCGTTG -3'

Sequencing Primer
(F):5'- GCAGTTTGTCAAGCCTATTAGATTG -3'
(R):5'- ACAGTCGTTGTTTTATTCTTTGTTC -3'

Posted On

2019-11-12