Mutagenetix > Incidental Mutation

Incidental Mutation 'R6725:Or4c116'

529800

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

044843-MU

Accession Numbers

Essential gene?

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

Stock #

R6725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88941919-88942854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88942640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 72 (T72N)

Ref Sequence

ENSEMBL: ENSMUSP00000149330 (fasta)

Gene Model

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

AlphaFold

L7MU53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099795
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: T72N

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

possibly damaging
Transcript: ENSMUST00000143255
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213404
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217635
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (55/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,469,833 (GRCm39)	Y623C	probably damaging	Het
Adgrv1	T	C	13: 81,585,676 (GRCm39)	E4596G	probably damaging	Het
Adgrv1	A	T	13: 81,641,329 (GRCm39)	C3267S	probably damaging	Het
Ankrd40	T	G	11: 94,225,641 (GRCm39)	V224G	probably benign	Het
Ap3s2	C	T	7: 79,570,390 (GRCm39)		probably benign	Het
Apip	T	A	2: 102,922,870 (GRCm39)	D229E	possibly damaging	Het
Atp2b4	C	T	1: 133,634,725 (GRCm39)	R1168H	probably benign	Het
Bcan	T	C	3: 87,902,791 (GRCm39)	K329R	possibly damaging	Het
Camk1g	T	C	1: 193,032,628 (GRCm39)	D261G	possibly damaging	Het
Ccdc30	T	A	4: 119,188,796 (GRCm39)	Q490L	probably damaging	Het
Ccdc83	A	G	7: 89,896,261 (GRCm39)	W103R	probably damaging	Het
Ctsl	T	A	13: 64,514,437 (GRCm39)	R69*	probably null	Het
Dchs1	C	T	7: 105,408,000 (GRCm39)	R1944H	probably damaging	Het
Fgb	T	C	3: 82,951,098 (GRCm39)	Y305C	probably damaging	Het
Fras1	T	A	5: 96,929,199 (GRCm39)	Y3868N	possibly damaging	Het
Gal3st2	T	A	1: 93,801,424 (GRCm39)	S27T	probably benign	Het
Galnt13	A	G	2: 54,745,244 (GRCm39)	D228G	probably damaging	Het
Gk5	A	T	9: 96,037,523 (GRCm39)	T346S	probably benign	Het
Gnrhr	T	C	5: 86,333,172 (GRCm39)	I233V	probably damaging	Het
Greb1	T	C	12: 16,738,568 (GRCm39)	Y1465C	probably damaging	Het
H6pd	A	G	4: 150,080,815 (GRCm39)	L10P	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ighv7-4	A	T	12: 114,186,489 (GRCm39)	D94E	probably damaging	Het
Lamb3	T	C	1: 192,986,890 (GRCm39)	Y59H	probably benign	Het
Msantd1	C	T	5: 35,078,765 (GRCm39)	T100I	probably damaging	Het
Msx3	T	A	7: 139,628,659 (GRCm39)		probably benign	Het
Mttp	C	A	3: 137,812,999 (GRCm39)	A559S	probably damaging	Het
Myh1	C	G	11: 67,092,719 (GRCm39)	D4E	probably damaging	Het
Or2ah1	A	G	2: 85,654,134 (GRCm39)	K273R	probably damaging	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or52e19	A	T	7: 102,959,561 (GRCm39)	D211V	probably damaging	Het
Pcdhac1	T	C	18: 37,223,381 (GRCm39)	Y65H	probably damaging	Het
Pcdhga8	A	T	18: 37,860,315 (GRCm39)	Y457F	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pja2	A	T	17: 64,596,962 (GRCm39)	M514K	probably damaging	Het
Plcxd2	T	C	16: 45,792,488 (GRCm39)	N284D	probably damaging	Het
Polr3d	A	T	14: 70,678,577 (GRCm39)	M129K	probably benign	Het
Ppp1r42	T	G	1: 10,069,732 (GRCm39)	E110A	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prelid2	A	G	18: 42,045,514 (GRCm39)	I132T	possibly damaging	Het
Sergef	G	A	7: 46,282,091 (GRCm39)		probably null	Het
Slc24a2	C	A	4: 87,145,119 (GRCm39)		probably null	Het
Stxbp3	A	T	3: 108,734,916 (GRCm39)	D24E	possibly damaging	Het
Tas2r123	A	T	6: 132,824,801 (GRCm39)	M233L	probably damaging	Het
Thsd7a	G	A	6: 12,555,630 (GRCm39)	H85Y	possibly damaging	Het
Tlr2	T	A	3: 83,745,603 (GRCm39)	E160V	probably benign	Het
Tmem171	A	T	13: 98,828,678 (GRCm39)	C157*	probably null	Het
Trpm3	T	C	19: 22,903,392 (GRCm39)	Y1051H	probably damaging	Het
Vmn2r28	A	G	7: 5,491,408 (GRCm39)	F280L	probably benign	Het
Xpo7	A	T	14: 70,914,253 (GRCm39)	Y748N	probably damaging	Het
Zan	T	C	5: 137,436,782 (GRCm39)	S2024G	unknown	Het
Zfhx2	A	T	14: 55,301,539 (GRCm39)	Y2148*	probably null	Het
Zscan4-ps1	T	C	7: 10,799,906 (GRCm39)	T328A	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
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
R7681:Or4c116	UTSW	2	88,941,935 (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'- GCTCATAATGGACAGGTAGTGC -3'
(R):5'- TCAAAGCCTTGTCAATGAGTTC -3'

Sequencing Primer
(F):5'- CAAGGGTTTGCAAATAGCCAC -3'
(R):5'- GAGTTCATACTCCTGGGTCTTTC -3'

Posted On

2018-08-01