Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Or4c117'

310230

Institutional Source

Beutler Lab

Gene Symbol

Or4c117

Ensembl Gene

ENSMUSG00000075101

Gene Name

olfactory receptor family 4 subfamily C member 117

Synonyms

MOR233-14, Olfr1222, GA_x6K02T2Q125-50604368-50603433

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88955138-88956073 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 88955927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 49 (Y49*)

Ref Sequence

ENSEMBL: ENSMUSP00000150144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099794] [ENSMUST00000214027] [ENSMUST00000215816]

AlphaFold

Q7TR02

Predicted Effect

probably null
Transcript: ENSMUST00000099794
AA Change: Y49*

SMART Domains

Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: Y49*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.3e-44	PFAM
Pfam:7tm_1	39	286	4.8e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137595
AA Change: Y49*

SMART Domains

Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: Y49*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	217	1.9e-22	PFAM
Pfam:7tm_4	138	217	1.4e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214027
AA Change: Y49*

Predicted Effect

probably null
Transcript: ENSMUST00000215816
AA Change: Y49*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		probably benign	Het

Other mutations in Or4c117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Or4c117	APN	2	88,956,072 (GRCm39)	start codon destroyed	probably null	1.00
IGL01876:Or4c117	APN	2	88,956,081 (GRCm39)	splice site	probably null
IGL02090:Or4c117	APN	2	88,956,021 (GRCm39)	missense	probably benign	0.20
IGL03230:Or4c117	APN	2	88,955,892 (GRCm39)	missense	probably damaging	1.00
R4272:Or4c117	UTSW	2	88,955,706 (GRCm39)	missense	probably damaging	1.00
R4975:Or4c117	UTSW	2	88,955,682 (GRCm39)	missense	probably damaging	1.00
R4981:Or4c117	UTSW	2	88,955,845 (GRCm39)	missense	probably benign	0.02
R5466:Or4c117	UTSW	2	88,955,477 (GRCm39)	missense	probably benign	0.25
R5768:Or4c117	UTSW	2	88,955,793 (GRCm39)	missense	probably benign	0.01
R7296:Or4c117	UTSW	2	88,955,180 (GRCm39)	missense	probably benign	0.03
R7757:Or4c117	UTSW	2	88,955,333 (GRCm39)	missense	possibly damaging	0.80
R8414:Or4c117	UTSW	2	88,956,058 (GRCm39)	missense	probably benign	0.00
R8911:Or4c117	UTSW	2	88,955,608 (GRCm39)	missense	probably benign	0.00
R9003:Or4c117	UTSW	2	88,956,024 (GRCm39)	missense	possibly damaging	0.80
R9105:Or4c117	UTSW	2	88,955,995 (GRCm39)	missense	probably benign	0.01
R9407:Or4c117	UTSW	2	88,955,629 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AACTCCTGCAAAGAAGTGGC -3'
(R):5'- GCTGATTACTCAAAGAAAGCTGACTAC -3'

Sequencing Primer
(F):5'- GCTAGTAAACAGTTGTGTGATGCAAC -3'
(R):5'- CTCATTACTGCAGATTTTCATGAAC -3'

Posted On

2015-04-17