Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Or4c115'

632390

Institutional Source

Beutler Lab

Gene Symbol

Or4c115

Ensembl Gene

ENSMUSG00000101480

Gene Name

olfactory receptor family 4 subfamily C member 115

Synonyms

Olfr1220, GA_x6K02T2Q125-50579531-50578596, MOR233-5

MMRRC Submission

067567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88927282-88928307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88928187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000097394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000099806] [ENSMUST00000213288]

AlphaFold

F7BL62

Predicted Effect

probably benign
Transcript: ENSMUST00000099789
AA Change: V28A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: V28A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	315	4.2e-48	PFAM
Pfam:7tm_1	51	298	4.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099806
AA Change: V28A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: V28A

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: ENSMUST00000213288
AA Change: V28A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	T	X: 69,438,120 (GRCm39)	Q58K	possibly damaging	Het
Aamdc	T	C	7: 97,214,450 (GRCm39)	M42V	probably benign	Het
Abca6	T	A	11: 110,074,959 (GRCm39)	Q1368L	probably damaging	Het
Best3	G	A	10: 116,840,331 (GRCm39)	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,602,697 (GRCm39)	I1478N	probably damaging	Het
Ccdc113	T	A	8: 96,285,366 (GRCm39)	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 179,896,884 (GRCm39)	H389L	probably damaging	Het
Cnn3	G	T	3: 121,248,718 (GRCm39)	M208I	probably damaging	Het
Col11a1	A	G	3: 113,890,698 (GRCm39)	D345G	unknown	Het
Degs1l	A	G	1: 180,882,358 (GRCm39)	D40G	probably damaging	Het
Dnah14	G	T	1: 181,582,853 (GRCm39)	V3131F	probably damaging	Het
Dst	T	A	1: 34,230,933 (GRCm39)	M2842K	probably benign	Het
Dus3l	C	T	17: 57,074,058 (GRCm39)	Q211*	probably null	Het
Eftud2	A	G	11: 102,758,685 (GRCm39)	F171S	probably benign	Het
Elac2	T	C	11: 64,871,440 (GRCm39)	I117T	probably benign	Het
Fam13b	A	G	18: 34,606,686 (GRCm39)	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,916,087 (GRCm39)	Q442*	probably null	Het
Fhdc1	A	G	3: 84,358,790 (GRCm39)	S370P	probably damaging	Het
Gtf3c6	T	C	10: 40,133,469 (GRCm39)		probably null	Het
I830077J02Rik	A	G	3: 105,835,314 (GRCm39)	V21A	probably benign	Het
Inf2	G	T	12: 112,568,074 (GRCm39)	E209*	probably null	Het
Irag1	A	G	7: 110,498,879 (GRCm39)		probably null	Het
Irs1	A	T	1: 82,267,460 (GRCm39)	M252K	probably damaging	Het
Kcng3	C	A	17: 83,938,516 (GRCm39)	V178L	probably damaging	Het
Kif16b	A	C	2: 142,743,285 (GRCm39)	S3A	probably benign	Het
Kit	T	C	5: 75,813,465 (GRCm39)	M884T	probably damaging	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Kptn	T	C	7: 15,857,901 (GRCm39)	I243T	probably benign	Het
Loxhd1	G	A	18: 77,468,192 (GRCm39)	E947K	possibly damaging	Het
Lyl1	A	T	8: 85,429,476 (GRCm39)	I62L	probably damaging	Het
Mmp24	C	T	2: 155,655,965 (GRCm39)	R468*	probably null	Het
Mtx2	G	A	2: 74,706,714 (GRCm39)	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,757 (GRCm39)	Y28*	probably null	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Nrxn3	A	G	12: 90,171,438 (GRCm39)	N923S	probably benign	Het
Ogfod2	C	T	5: 124,251,538 (GRCm39)	T116M	possibly damaging	Het
Oosp1	T	C	19: 11,645,118 (GRCm39)	E182G	possibly damaging	Het
Or5p67	T	A	7: 107,922,113 (GRCm39)	T257S	probably benign	Het
Or7g20	A	T	9: 18,946,871 (GRCm39)	I151F	probably benign	Het
Or7g28	A	C	9: 19,272,504 (GRCm39)	V49G	probably damaging	Het
Oxnad1	C	A	14: 31,814,048 (GRCm39)	T47K	possibly damaging	Het
Pcdha5	A	G	18: 37,095,791 (GRCm39)	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,604,309 (GRCm39)	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,341 (GRCm39)	H763L	possibly damaging	Het
Plec	T	C	15: 76,058,510 (GRCm39)	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,074,430 (GRCm39)	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,228,266 (GRCm39)	V1090A	probably benign	Het
Ptgdr	T	C	14: 45,096,142 (GRCm39)	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,665,189 (GRCm39)	C173*	probably null	Het
Rhobtb1	C	A	10: 69,102,120 (GRCm39)	P134T	probably damaging	Het
Slc25a36	A	T	9: 96,962,505 (GRCm39)	F161L	probably benign	Het
Slc5a11	A	G	7: 122,869,199 (GRCm39)	T596A	probably benign	Het
Slco1a6	T	C	6: 142,035,626 (GRCm39)	Y566C	probably damaging	Het
Snx15	T	G	19: 6,169,945 (GRCm39)	K321T	probably damaging	Het
Snx15	T	C	19: 6,169,946 (GRCm39)	K321E	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Syt8	T	C	7: 141,992,005 (GRCm39)	I32T	probably benign	Het
Thumpd1	T	C	7: 119,319,808 (GRCm39)	N53D	possibly damaging	Het
Timm21	T	C	18: 84,969,263 (GRCm39)	T54A	probably benign	Het
Tmed10	A	G	12: 85,391,091 (GRCm39)	V149A	probably damaging	Het
Tmem108	T	A	9: 103,377,084 (GRCm39)	M122L	probably benign	Het
Tram1l1	A	G	3: 124,115,436 (GRCm39)	I199V	probably benign	Het
Tspan8	A	G	10: 115,675,802 (GRCm39)	N156S	probably benign	Het
Vamp9	A	G	5: 100,072,785 (GRCm39)	I111V	probably benign	Het
Vars1	T	C	17: 35,230,480 (GRCm39)	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,349,743 (GRCm39)	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Vps33a	T	C	5: 123,672,015 (GRCm39)	K451R	probably benign	Het
Vsig10l	T	C	7: 43,113,153 (GRCm39)	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,332,660 (GRCm39)	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013 (GRCm39)	E315G	probably benign	Het
Zfp467	C	T	6: 48,416,268 (GRCm39)	G128D	probably damaging	Het

Other mutations in Or4c115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Or4c115	APN	2	88,927,888 (GRCm39)	missense	probably damaging	1.00
IGL02861:Or4c115	APN	2	88,927,801 (GRCm39)	missense	probably benign	0.38
IGL02990:Or4c115	APN	2	88,927,473 (GRCm39)	missense	possibly damaging	0.94
PIT4403001:Or4c115	UTSW	2	88,927,420 (GRCm39)	missense	probably benign	0.00
R0589:Or4c115	UTSW	2	88,927,606 (GRCm39)	missense	probably benign	0.01
R1518:Or4c115	UTSW	2	88,927,944 (GRCm39)	missense	probably benign	0.00
R1573:Or4c115	UTSW	2	88,928,064 (GRCm39)	missense	probably damaging	1.00
R1800:Or4c115	UTSW	2	88,928,050 (GRCm39)	missense	probably benign	0.00
R1908:Or4c115	UTSW	2	88,927,888 (GRCm39)	missense	probably damaging	1.00
R3409:Or4c115	UTSW	2	88,927,668 (GRCm39)	missense	possibly damaging	0.74
R4678:Or4c115	UTSW	2	88,927,860 (GRCm39)	missense	probably benign	0.00
R5856:Or4c115	UTSW	2	88,928,254 (GRCm39)	missense	probably benign
R5888:Or4c115	UTSW	2	88,928,269 (GRCm39)	start codon destroyed	probably damaging	1.00
R6961:Or4c115	UTSW	2	88,928,149 (GRCm39)	missense	probably benign
R7197:Or4c115	UTSW	2	88,927,626 (GRCm39)	missense	probably benign	0.03
R7455:Or4c115	UTSW	2	88,927,434 (GRCm39)	missense	probably damaging	1.00
R7894:Or4c115	UTSW	2	88,927,932 (GRCm39)	missense	possibly damaging	0.90
R8008:Or4c115	UTSW	2	88,928,059 (GRCm39)	missense	probably benign	0.35
R8971:Or4c115	UTSW	2	88,927,891 (GRCm39)	nonsense	probably null
R9068:Or4c115	UTSW	2	88,927,369 (GRCm39)	missense	probably benign	0.00
R9290:Or4c115	UTSW	2	88,928,076 (GRCm39)	missense	probably damaging	1.00
R9310:Or4c115	UTSW	2	88,928,257 (GRCm39)	missense	probably damaging	1.00
R9717:Or4c115	UTSW	2	88,927,573 (GRCm39)	missense	probably benign	0.00
X0019:Or4c115	UTSW	2	88,928,240 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGTTGTGTCATGCAGCC -3'
(R):5'- CTCTAACCCGATTTAGAGGAGATAC -3'

Sequencing Primer
(F):5'- GTGTCATGCAGCCTTCAAAG -3'
(R):5'- ACCCGATTTAGAGGAGATACTTTTAG -3'

Posted On

2020-06-30