Mutagenetix > Incidental Mutation

Incidental Mutation 'R2921:Or4c113'

255507

Institutional Source

Beutler Lab

Gene Symbol

Or4c113

Ensembl Gene

ENSMUSG00000075105

Gene Name

olfactory receptor family 4 subfamily C member 113

Synonyms

GA_x6K02T2Q125-50536041-50535106, Olfr1218, MOR233-12

MMRRC Submission

040506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88884833-88885768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88884843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 309 (V309A)

Ref Sequence

ENSEMBL: ENSMUSP00000149671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099798] [ENSMUST00000213609] [ENSMUST00000215048] [ENSMUST00000215054]

AlphaFold

L7MU54

Predicted Effect

probably benign
Transcript: ENSMUST00000099798
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: V309A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.4e-45	PFAM
Pfam:7tm_1	39	286	2.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213609
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215048
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215054
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Adipor1	T	C	1: 134,353,731 (GRCm39)	V172A	possibly damaging	Het
Akt2	A	G	7: 27,328,411 (GRCm39)	K146R	probably benign	Het
Atg4a	T	C	X: 139,941,768 (GRCm39)	V284A	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Ccn5	G	A	2: 163,674,266 (GRCm39)	R222Q	probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dpm3	C	T	3: 89,174,062 (GRCm39)	L8F	probably damaging	Het
Fhl3	T	C	4: 124,599,463 (GRCm39)	S13P	probably damaging	Het
Fndc1	A	G	17: 8,023,707 (GRCm39)	S83P	probably damaging	Het
Gapvd1	A	T	2: 34,578,875 (GRCm39)	I1249N	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Gm57858	T	C	3: 36,080,077 (GRCm39)	M227V	probably null	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Grm7	T	A	6: 111,472,866 (GRCm39)		probably null	Het
Hdc	G	A	2: 126,435,910 (GRCm39)	P654S	probably damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Mboat2	T	A	12: 25,004,239 (GRCm39)	W347R	probably damaging	Het
Mlkl	T	C	8: 112,043,079 (GRCm39)	E356G	probably benign	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nipal3	A	T	4: 135,204,776 (GRCm39)	I125N	probably damaging	Het
Nr1h4	A	T	10: 89,334,223 (GRCm39)	Y42N	probably damaging	Het
Nup155	A	C	15: 8,183,125 (GRCm39)	E1228D	probably damaging	Het
Pde4dip	T	C	3: 97,626,885 (GRCm39)	N1218D	probably benign	Het
Ralgps1	A	T	2: 33,033,082 (GRCm39)	I449N	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rfx7	G	A	9: 72,524,946 (GRCm39)	G712D	possibly damaging	Het
Rnf151	C	T	17: 24,935,235 (GRCm39)	G232D	possibly damaging	Het
Rpl22	C	A	4: 152,412,002 (GRCm39)	T26N	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Safb2	A	G	17: 56,875,906 (GRCm39)	V89A	possibly damaging	Het
Setx	TGTGG	TG	2: 29,044,072 (GRCm39)		probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Slc26a2	T	A	18: 61,335,007 (GRCm39)	I149F	probably damaging	Het
Slc6a15	A	G	10: 103,254,248 (GRCm39)	D728G	probably damaging	Het
Slfn3	A	G	11: 83,105,871 (GRCm39)	M623V	probably benign	Het
Smim1	A	G	4: 154,108,097 (GRCm39)		probably benign	Het
Spatc1	T	C	15: 76,168,125 (GRCm39)	S195P	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Trpc6	A	T	9: 8,653,034 (GRCm39)	L613F	possibly damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zdhhc18	G	T	4: 133,360,455 (GRCm39)	H82Q	probably benign	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	probably damaging	Het

Other mutations in Or4c113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Or4c113	APN	2	88,884,913 (GRCm39)	missense	probably damaging	1.00
IGL03089:Or4c113	APN	2	88,885,357 (GRCm39)	missense	probably benign	0.34
IGL03387:Or4c113	APN	2	88,885,457 (GRCm39)	missense	probably damaging	1.00
R0350:Or4c113	UTSW	2	88,885,700 (GRCm39)	missense	probably benign	0.10
R0699:Or4c113	UTSW	2	88,885,636 (GRCm39)	missense	possibly damaging	0.67
R1609:Or4c113	UTSW	2	88,885,688 (GRCm39)	missense	probably benign
R1856:Or4c113	UTSW	2	88,885,203 (GRCm39)	missense	possibly damaging	0.95
R1972:Or4c113	UTSW	2	88,884,891 (GRCm39)	missense	probably benign	0.05
R2066:Or4c113	UTSW	2	88,885,243 (GRCm39)	missense	probably damaging	0.99
R2923:Or4c113	UTSW	2	88,884,843 (GRCm39)	missense	probably benign	0.04
R4037:Or4c113	UTSW	2	88,885,032 (GRCm39)	missense	probably damaging	0.99
R4585:Or4c113	UTSW	2	88,885,498 (GRCm39)	missense	possibly damaging	0.77
R4586:Or4c113	UTSW	2	88,885,498 (GRCm39)	missense	possibly damaging	0.77
R5041:Or4c113	UTSW	2	88,885,265 (GRCm39)	nonsense	probably null
R5124:Or4c113	UTSW	2	88,885,431 (GRCm39)	missense	probably damaging	0.96
R5138:Or4c113	UTSW	2	88,885,291 (GRCm39)	missense	probably benign	0.00
R5415:Or4c113	UTSW	2	88,885,240 (GRCm39)	missense	probably benign	0.00
R5501:Or4c113	UTSW	2	88,885,230 (GRCm39)	nonsense	probably null
R5941:Or4c113	UTSW	2	88,884,963 (GRCm39)	missense	probably benign
R5991:Or4c113	UTSW	2	88,885,126 (GRCm39)	missense	probably benign	0.01
R6396:Or4c113	UTSW	2	88,885,641 (GRCm39)	missense	probably benign	0.36
R7047:Or4c113	UTSW	2	88,885,490 (GRCm39)	missense	probably damaging	0.98
R8038:Or4c113	UTSW	2	88,885,212 (GRCm39)	missense	probably damaging	1.00
R8387:Or4c113	UTSW	2	88,885,646 (GRCm39)	missense	probably benign
R8403:Or4c113	UTSW	2	88,884,948 (GRCm39)	missense	probably benign	0.00
R8794:Or4c113	UTSW	2	88,885,477 (GRCm39)	missense	probably benign
R8907:Or4c113	UTSW	2	88,885,542 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACCCTGGGATCTGCCAATC -3'
(R):5'- CCCACAGTTCTGAAGGACGAAG -3'

Sequencing Primer
(F):5'- gattctgacatgccttgt -3'
(R):5'- AGCCCACGTTACTGTTGTAG -3'

Posted On

2014-12-29