Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Or4c113'

344075

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

041807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88884833-88885768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88885498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 91 (I91L)

Ref Sequence

ENSEMBL: ENSMUSP00000149671 (fasta)

Gene Model

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

AlphaFold

L7MU54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099798
AA Change: I91L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: I91L

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

possibly damaging
Transcript: ENSMUST00000213609
AA Change: I91L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215048
AA Change: I91L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215054
AA Change: I91L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.2940

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	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
R2921:Or4c113	UTSW	2	88,884,843 (GRCm39)	missense	probably benign	0.04
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
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'- GCCCAGGATATTGCTACCAAAATG -3'
(R):5'- GGGCTTTCTCAGAACCCAATAG -3'

Sequencing Primer
(F):5'- TATTGCTACCAAAATGCTACAGAGC -3'
(R):5'- GGCTTTCTCAGAACCCAATAGTTGAG -3'

Posted On

2015-09-24