Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Or4c108'

529739

Institutional Source

Beutler Lab

Gene Symbol

Or4c108

Ensembl Gene

ENSMUSG00000089751

Gene Name

olfactory receptor family 4 subfamily C member 108

Synonyms

GA_x6K02T2Q125-50452032-50451097, Olfr1213, MOR233-7, Gm13762

MMRRC Submission

044842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88803298-88810611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88803612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 208 (I208L)

Ref Sequence

ENSEMBL: ENSMUSP00000126588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144908] [ENSMUST00000168169]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000144908
AA Change: I208L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000168169
AA Change: I208L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126588
Gene: ENSMUSG00000075111
AA Change: I208L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	1.8e-26	PFAM
Pfam:7tm_4	138	282	3.3e-36	PFAM

Meta Mutation Damage Score

0.1528

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,665,445 (GRCm39)	T619S	probably benign	Het
Adgra2	G	A	8: 27,604,210 (GRCm39)	A467T	possibly damaging	Het
Alox5	A	T	6: 116,391,509 (GRCm39)	I416N	probably damaging	Het
Blmh	A	G	11: 76,862,733 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,255,973 (GRCm39)	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728 (GRCm39)	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,706,874 (GRCm39)	T2080A	unknown	Het
Crybg3	A	T	16: 59,364,501 (GRCm39)	C2374S	probably benign	Het
Csmd2	A	G	4: 128,457,164 (GRCm39)	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,518,180 (GRCm39)	D1809V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,728,602 (GRCm39)	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,736,817 (GRCm39)	V319D	probably damaging	Het
Eif1ad6	A	T	12: 87,668,754 (GRCm39)	I129F	unknown	Het
Ercc6	A	T	14: 32,288,288 (GRCm39)	E820V	probably benign	Het
Fip1l1	T	G	5: 74,752,435 (GRCm39)	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,911,552 (GRCm39)	Y358F	possibly damaging	Het
Gcn1	T	G	5: 115,747,217 (GRCm39)		probably null	Het
Gm11011	T	A	2: 169,429,402 (GRCm39)	T28S	unknown	Het
Guf1	C	A	5: 69,723,736 (GRCm39)	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,192,719 (GRCm39)	E223G	probably benign	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ipo8	A	T	6: 148,711,473 (GRCm39)		probably null	Het
Isl2	A	G	9: 55,448,572 (GRCm39)	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,780,664 (GRCm39)	Y512C	probably damaging	Het
Kifc1	T	A	17: 34,105,707 (GRCm39)		probably null	Het
Klhdc10	A	G	6: 30,446,640 (GRCm39)	D183G	probably damaging	Het
Klra5	T	A	6: 129,883,643 (GRCm39)	K71N	probably benign	Het
Lrp6	T	C	6: 134,463,504 (GRCm39)	H559R	possibly damaging	Het
Maml3	T	C	3: 51,763,296 (GRCm39)	N556S	probably damaging	Het
Man2a1	A	G	17: 65,038,264 (GRCm39)	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,786 (GRCm39)	S293P	probably damaging	Het
Nalcn	A	G	14: 123,535,479 (GRCm39)	S1282P	probably damaging	Het
Npepps	A	T	11: 97,096,828 (GRCm39)		probably benign	Het
Or4a72	A	T	2: 89,405,309 (GRCm39)	F254I	probably benign	Het
Or8u10	A	T	2: 85,915,701 (GRCm39)	V140E	possibly damaging	Het
Or9m1	T	G	2: 87,733,946 (GRCm39)	S25R	probably benign	Het
Pkn3	C	A	2: 29,980,562 (GRCm39)	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,517,745 (GRCm39)	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,335,281 (GRCm39)	S261T	probably benign	Het
Ptprj	T	C	2: 90,281,195 (GRCm39)	D1015G	probably benign	Het
Pus10	T	C	11: 23,679,037 (GRCm39)	M503T	possibly damaging	Het
Pvr	T	C	7: 19,652,604 (GRCm39)	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,289,450 (GRCm39)	R653G	probably benign	Het
Semp2l2a	A	T	8: 13,887,083 (GRCm39)	L336Q	probably damaging	Het
Serpina1a	G	T	12: 103,826,679 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,416,656 (GRCm39)	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,110,928 (GRCm39)	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,779,726 (GRCm39)	I30T	probably benign	Het
Spz1	A	T	13: 92,711,992 (GRCm39)	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,330,492 (GRCm39)	R259G	probably damaging	Het
Top1	G	A	2: 160,554,616 (GRCm39)	V456M	probably damaging	Het
Tpcn2	G	A	7: 144,810,257 (GRCm39)	A649V	probably benign	Het
Trank1	C	G	9: 111,194,984 (GRCm39)	R1003G	probably damaging	Het
Tril	T	A	6: 53,796,559 (GRCm39)	H221L	possibly damaging	Het
Unc79	C	T	12: 103,071,120 (GRCm39)	T1305I	probably damaging	Het
Unc80	C	T	1: 66,722,350 (GRCm39)	A2988V	possibly damaging	Het
Vinac1	A	C	2: 128,879,976 (GRCm39)	V650G	probably benign	Het
Vmn1r81	A	T	7: 11,994,599 (GRCm39)	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,084,112 (GRCm39)	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,452,093 (GRCm39)	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,084,774 (GRCm39)	T624I	probably damaging	Het

Other mutations in Or4c108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Or4c108	APN	2	88,803,868 (GRCm39)	nonsense	probably null
IGL02685:Or4c108	APN	2	88,803,365 (GRCm39)	missense	possibly damaging	0.94
R0240:Or4c108	UTSW	2	88,803,740 (GRCm39)	missense	probably damaging	1.00
R0240:Or4c108	UTSW	2	88,803,740 (GRCm39)	missense	probably damaging	1.00
R1446:Or4c108	UTSW	2	88,804,109 (GRCm39)	missense	probably benign	0.00
R1845:Or4c108	UTSW	2	88,803,482 (GRCm39)	missense	probably benign	0.22
R1868:Or4c108	UTSW	2	88,804,128 (GRCm39)	missense	possibly damaging	0.60
R1953:Or4c108	UTSW	2	88,804,224 (GRCm39)	nonsense	probably null
R4205:Or4c108	UTSW	2	88,803,482 (GRCm39)	missense	probably benign	0.22
R4751:Or4c108	UTSW	2	88,803,477 (GRCm39)	missense	probably damaging	1.00
R4895:Or4c108	UTSW	2	88,804,055 (GRCm39)	missense	probably benign	0.39
R4937:Or4c108	UTSW	2	88,803,834 (GRCm39)	missense	probably damaging	1.00
R5621:Or4c108	UTSW	2	88,803,810 (GRCm39)	missense	probably benign	0.00
R5678:Or4c108	UTSW	2	88,803,317 (GRCm39)	nonsense	probably null
R5938:Or4c108	UTSW	2	88,803,357 (GRCm39)	missense	probably benign	0.00
R6021:Or4c108	UTSW	2	88,803,376 (GRCm39)	nonsense	probably null
R6180:Or4c108	UTSW	2	88,804,226 (GRCm39)	missense	probably damaging	1.00
R6873:Or4c108	UTSW	2	88,803,768 (GRCm39)	missense	probably benign
R6893:Or4c108	UTSW	2	88,804,143 (GRCm39)	missense	probably benign	0.00
R7221:Or4c108	UTSW	2	88,803,497 (GRCm39)	missense	probably damaging	0.99
R7634:Or4c108	UTSW	2	88,804,001 (GRCm39)	missense	probably damaging	1.00
R8233:Or4c108	UTSW	2	88,804,082 (GRCm39)	missense	probably benign
R8262:Or4c108	UTSW	2	88,803,552 (GRCm39)	missense	probably damaging	0.99
R8979:Or4c108	UTSW	2	88,804,173 (GRCm39)	missense	probably benign	0.00
R9136:Or4c108	UTSW	2	88,804,113 (GRCm39)	missense	probably benign	0.00
R9696:Or4c108	UTSW	2	88,803,615 (GRCm39)	missense	probably benign	0.05
R9726:Or4c108	UTSW	2	88,804,221 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCAATGGTGTCAGGATAGTAGC -3'
(R):5'- GACAGGAGGCTTCTTGCATTC -3'

Sequencing Primer
(F):5'- CAACAGTAATGTGGGACC -3'
(R):5'- GGAGGCTTCTTGCATTCTACCATAC -3'

Posted On

2018-08-01