Mutagenetix > Incidental Mutation

Incidental Mutation 'R7976:Or4c110'

650885

Institutional Source

Beutler Lab

Gene Symbol

Or4c110

Ensembl Gene

ENSMUSG00000100016

Gene Name

olfactory receptor family 4 subfamily C member 110

Synonyms

MOR233-13, Olfr1215, GA_x6K02T2Q125-50482823-50481885

MMRRC Submission

046019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88831692-88832634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88831973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 220 (I220F)

Ref Sequence

ENSEMBL: ENSMUSP00000150030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000188399] [ENSMUST00000214809] [ENSMUST00000216271]

AlphaFold

A3KGY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000188399
AA Change: I220F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141134
Gene: ENSMUSG00000100016
AA Change: I220F

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
Pfam:7tm_1	39	286	1.9e-25	PFAM
Pfam:7tm_4	138	283	1.7e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214809
AA Change: I220F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216271
AA Change: I220F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	C	12: 112,602,831 (GRCm39)	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092 (GRCm39)	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,431,451 (GRCm39)	Q778*	probably null	Het
Bmper	T	C	9: 23,318,106 (GRCm39)	V575A	probably damaging	Het
Brinp2	A	G	1: 158,073,913 (GRCm39)	V736A	probably benign	Het
Ccdc81	A	T	7: 89,515,723 (GRCm39)	L652*	probably null	Het
Cdt1	C	T	8: 123,298,585 (GRCm39)	R437W	probably damaging	Het
Ckb	A	C	12: 111,637,466 (GRCm39)	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,290,075 (GRCm39)	G255V	probably damaging	Het
Ddx17	A	G	15: 79,420,156 (GRCm39)		probably null	Het
Dennd4a	G	T	9: 64,759,794 (GRCm39)	G300W	possibly damaging	Het
Dlg4	T	A	11: 69,930,008 (GRCm39)	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah9	T	C	11: 65,732,227 (GRCm39)	I4226M	possibly damaging	Het
Drc1	G	A	5: 30,521,829 (GRCm39)	A734T	probably benign	Het
Entpd1	A	G	19: 40,600,865 (GRCm39)	M1V	probably null	Het
Exph5	T	G	9: 53,287,935 (GRCm39)	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,427,852 (GRCm39)	D379E	probably damaging	Het
Fgfr2	T	C	7: 129,787,074 (GRCm39)	T461A	probably damaging	Het
Frem1	A	G	4: 82,919,946 (GRCm39)	V469A	probably damaging	Het
Frem3	A	T	8: 81,338,231 (GRCm39)	K175*	probably null	Het
Fsd2	C	T	7: 81,209,629 (GRCm39)	G71E	probably benign	Het
Gcat	T	C	15: 78,919,188 (GRCm39)	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,331,458 (GRCm39)	S202N	unknown	Het
Glra3	T	G	8: 56,565,911 (GRCm39)		probably null	Het
Golga4	C	T	9: 118,365,836 (GRCm39)	T296I	possibly damaging	Het
Herc1	C	T	9: 66,341,552 (GRCm39)	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786 (GRCm39)	R3L	unknown	Het
Ighv15-2	A	T	12: 114,528,470 (GRCm39)	S28T	probably benign	Het
Kat2b	T	A	17: 53,955,835 (GRCm39)	M427K	probably benign	Het
Kdm4c	A	G	4: 74,295,906 (GRCm39)	T882A	probably damaging	Het
Kif1a	G	T	1: 92,967,496 (GRCm39)	F1138L	probably damaging	Het
Klhl20	A	T	1: 160,934,307 (GRCm39)	S237R	probably benign	Het
Lamc1	A	T	1: 153,123,014 (GRCm39)	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,444,890 (GRCm39)	D1191G	unknown	Het
Ltbp1	C	A	17: 75,670,358 (GRCm39)	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,195,432 (GRCm39)	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,515,449 (GRCm39)	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,360,446 (GRCm39)	A333S	probably benign	Het
Mllt10	T	C	2: 18,167,214 (GRCm39)	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,238,829 (GRCm39)	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,363,528 (GRCm39)	I2280F	unknown	Het
Neurod2	A	C	11: 98,218,023 (GRCm39)	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,005,954 (GRCm39)	A469V	probably damaging	Het
Nup205	T	C	6: 35,175,888 (GRCm39)	F584L	probably damaging	Het
Oas1d	A	T	5: 121,057,210 (GRCm39)	Y272F	probably damaging	Het
Olfm3	T	C	3: 114,874,794 (GRCm39)	V30A	probably benign	Het
Or5b117	A	G	19: 13,431,563 (GRCm39)	I106T	probably benign	Het
Or8k22	A	G	2: 86,163,064 (GRCm39)	V212A	probably benign	Het
Pcdhga12	A	G	18: 37,901,427 (GRCm39)	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,253,514 (GRCm39)	V294A	unknown	Het
Prdm2	A	T	4: 142,859,812 (GRCm39)	C1159*	probably null	Het
Ptpn12	G	T	5: 21,207,631 (GRCm39)	S275*	probably null	Het
Rigi	T	C	4: 40,209,894 (GRCm39)	M725V	probably damaging	Het
Rnf223	A	T	4: 156,216,776 (GRCm39)	E50D	probably damaging	Het
Rrp12	A	T	19: 41,879,548 (GRCm39)	Y169N	probably benign	Het
Sgip1	T	C	4: 102,757,736 (GRCm39)		probably null	Het
Shank2	T	C	7: 143,964,798 (GRCm39)	I802T	probably damaging	Het
Skint2	A	T	4: 112,481,329 (GRCm39)	N64I	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Tmem106c	G	C	15: 97,865,985 (GRCm39)	G192R	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Upf2	G	C	2: 6,030,926 (GRCm39)	V789L	unknown	Het
Vash1	A	G	12: 86,726,758 (GRCm39)		probably benign	Het
Vmn1r201	T	A	13: 22,658,875 (GRCm39)	Y30N	probably benign	Het
Xpr1	A	G	1: 155,166,035 (GRCm39)	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,139,815 (GRCm39)	S87P	probably damaging	Het
Zer1	T	C	2: 29,997,520 (GRCm39)	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,684,375 (GRCm39)	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,375,749 (GRCm39)	S742P	probably benign	Het

Other mutations in Or4c110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Or4c110	APN	2	88,831,683 (GRCm39)	utr 3 prime	probably benign
IGL02395:Or4c110	APN	2	88,832,507 (GRCm39)	missense	probably benign	0.00
IGL02399:Or4c110	APN	2	88,832,507 (GRCm39)	missense	probably benign	0.00
IGL02409:Or4c110	APN	2	88,832,254 (GRCm39)	missense	possibly damaging	0.75
IGL02421:Or4c110	APN	2	88,831,688 (GRCm39)	splice site	probably null
IGL03036:Or4c110	APN	2	88,832,459 (GRCm39)	missense	possibly damaging	0.94
R2036:Or4c110	UTSW	2	88,831,976 (GRCm39)	missense	probably damaging	0.97
R2199:Or4c110	UTSW	2	88,831,894 (GRCm39)	missense	probably damaging	0.98
R3930:Or4c110	UTSW	2	88,832,377 (GRCm39)	missense	probably benign	0.32
R4990:Or4c110	UTSW	2	88,831,816 (GRCm39)	missense	probably damaging	0.97
R5199:Or4c110	UTSW	2	88,832,107 (GRCm39)	missense	possibly damaging	0.70
R5368:Or4c110	UTSW	2	88,832,435 (GRCm39)	missense	probably damaging	1.00
R5396:Or4c110	UTSW	2	88,832,540 (GRCm39)	missense	probably benign	0.15
R6881:Or4c110	UTSW	2	88,832,281 (GRCm39)	missense	probably damaging	1.00
R7195:Or4c110	UTSW	2	88,832,075 (GRCm39)	missense
R7425:Or4c110	UTSW	2	88,832,544 (GRCm39)	missense
R7804:Or4c110	UTSW	2	88,831,855 (GRCm39)	missense	unknown
R8094:Or4c110	UTSW	2	88,832,712 (GRCm39)	start gained	probably benign
R8716:Or4c110	UTSW	2	88,832,060 (GRCm39)	missense
R8737:Or4c110	UTSW	2	88,832,351 (GRCm39)	nonsense	probably null
R9485:Or4c110	UTSW	2	88,831,709 (GRCm39)	missense	unknown
R9721:Or4c110	UTSW	2	88,832,060 (GRCm39)	missense
Z1088:Or4c110	UTSW	2	88,832,182 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTGAGTAACGGTGTCAAGACATC -3'
(R):5'- CTAGTGGGGATAGCCTTTGCAG -3'

Sequencing Primer
(F):5'- GAGATGTAGGTCGTGCATA -3'
(R):5'- AGGGGGATTTTTGCATTCCATCATAC -3'

Posted On

2020-09-15