Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Or4c108'

478918

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

044194-MU

Accession Numbers

Essential gene?

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

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88803298-88810611 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 88803376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 286 (Y286*)

Ref Sequence

ENSEMBL: ENSMUSP00000126588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099806] [ENSMUST00000144908] [ENSMUST00000168169]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000099806
AA Change: Y286*

SMART Domains

Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: Y286*

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

noncoding transcript
Transcript: ENSMUST00000131574

Predicted Effect

probably null
Transcript: ENSMUST00000144908
AA Change: Y286*

Predicted Effect

probably null
Transcript: ENSMUST00000168169
AA Change: Y286*

SMART Domains

Protein: ENSMUSP00000126588
Gene: ENSMUSG00000075111
AA Change: Y286*

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

0.9717

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Gabra5	A	G	7: 57,157,740 (GRCm39)	S25P	probably benign	Het
Get1	T	C	16: 95,946,878 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
Grm2	T	C	9: 106,527,999 (GRCm39)	D295G	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,593,671 (GRCm39)		probably null	Het
Pak1	T	C	7: 97,503,670 (GRCm39)	S2P	probably damaging	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	unknown	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
R6180:Or4c108	UTSW	2	88,804,226 (GRCm39)	missense	probably damaging	1.00
R6724:Or4c108	UTSW	2	88,803,612 (GRCm39)	missense	probably benign	0.02
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'- AGGAGAGAGTACATATCCTTGAACATG -3'
(R):5'- GGGAGACGTAAAGCTCTCTC -3'

Sequencing Primer
(F):5'- GTATACCCACTGGAAACTGACTGTG -3'
(R):5'- GGAGACGTAAAGCTCTCTCTACCTG -3'

Posted On

2017-06-26