Mutagenetix > Incidental Mutation

Incidental Mutation 'R5124:Or4c113'

393432

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

042712-MU

Accession Numbers

Essential gene?

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

Stock #

R5124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88884833-88885768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88885431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 113 (V113D)

Ref Sequence

ENSEMBL: ENSMUSP00000149671 (fasta)

Gene Model

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

AlphaFold

L7MU54

Predicted Effect

probably damaging
Transcript: ENSMUST00000099798
AA Change: V113D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: V113D

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 damaging
Transcript: ENSMUST00000213609
AA Change: V113D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215048
AA Change: V113D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215054
AA Change: V113D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.4279

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (60/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,401,289 (GRCm39)	I65N	probably damaging	Het
Adpgk	A	G	9: 59,222,561 (GRCm39)	D496G	possibly damaging	Het
Agbl4	A	G	4: 111,513,525 (GRCm39)	M424V	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Bpifa3	C	T	2: 153,980,057 (GRCm39)	Q230*	probably null	Het
Cog4	G	T	8: 111,573,825 (GRCm39)	R48L	probably damaging	Het
Cop1	A	G	1: 159,105,682 (GRCm39)	Y33C	probably damaging	Het
Cyp26a1	A	T	19: 37,689,665 (GRCm39)	I454L	probably benign	Het
Ddr1	T	C	17: 35,994,489 (GRCm39)	H762R	probably damaging	Het
Dnajc2	A	T	5: 21,968,482 (GRCm39)	S328T	probably benign	Het
Dppa2	G	T	16: 48,131,986 (GRCm39)	V28F	probably damaging	Het
Dusp15	T	A	2: 152,793,275 (GRCm39)	M1L	possibly damaging	Het
Eml5	G	A	12: 98,758,301 (GRCm39)	T1875M	probably damaging	Het
Fam186a	A	G	15: 99,840,977 (GRCm39)	S1756P	possibly damaging	Het
Gm5431	T	A	11: 48,779,866 (GRCm39)	Q630L	probably benign	Het
H6pd	A	G	4: 150,066,512 (GRCm39)	S625P	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj6	G	T	16: 94,633,518 (GRCm39)	P180T	probably damaging	Het
Lpin3	T	A	2: 160,738,981 (GRCm39)	M263K	probably benign	Het
Lrp2	A	T	2: 69,331,834 (GRCm39)	D1640E	probably damaging	Het
Lypd2	C	T	15: 74,604,347 (GRCm39)	A74T	probably benign	Het
Map4k1	T	C	7: 28,688,257 (GRCm39)	L223P	probably damaging	Het
Myh7	A	T	14: 55,223,199 (GRCm39)	Y715*	probably null	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neb	T	C	2: 52,171,510 (GRCm39)	E1661G	probably damaging	Het
Nek8	A	T	11: 78,063,765 (GRCm39)	M80K	probably damaging	Het
Nup188	T	A	2: 30,220,947 (GRCm39)	L979Q	probably damaging	Het
P4htm	T	A	9: 108,459,141 (GRCm39)	S264C	possibly damaging	Het
Pcdha8	A	G	18: 37,126,768 (GRCm39)	T417A	probably benign	Het
Pclo	T	C	5: 14,727,406 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,893,476 (GRCm39)	N323I	possibly damaging	Het
Prune2	A	T	19: 17,177,274 (GRCm39)	R222S	probably damaging	Het
Psmd2	C	A	16: 20,471,448 (GRCm39)	R100S	possibly damaging	Het
Qrich2	A	T	11: 116,337,599 (GRCm39)	M1963K	probably damaging	Het
Rbm39	C	T	2: 156,001,082 (GRCm39)	G324D	probably damaging	Het
Rhobtb1	A	T	10: 69,105,731 (GRCm39)		probably null	Het
Rhov	G	T	2: 119,101,568 (GRCm39)	P13T	unknown	Het
Sec14l3	A	G	11: 4,025,209 (GRCm39)	D273G	possibly damaging	Het
Sirpd	T	A	3: 15,385,639 (GRCm39)	R88*	probably null	Het
Slco2a1	T	A	9: 102,927,365 (GRCm39)	I86N	probably damaging	Het
Smg1	A	T	7: 117,812,235 (GRCm39)	S19T	probably benign	Het
Stk32a	T	C	18: 43,438,082 (GRCm39)	S194P	probably benign	Het
Syna	G	A	5: 134,588,424 (GRCm39)	S175L	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tmem151b	T	C	17: 45,858,045 (GRCm39)	Y67C	probably damaging	Het
Tshz1	C	T	18: 84,033,592 (GRCm39)	R272Q	probably damaging	Het
Tti1	A	G	2: 157,850,115 (GRCm39)	S375P	probably damaging	Het
Vcan	T	C	13: 89,873,636 (GRCm39)	K73E	probably damaging	Het
Vmn1r202	C	T	13: 22,685,920 (GRCm39)	V166I	probably benign	Het
Vmn2r10	A	G	5: 109,154,286 (GRCm39)	V6A	probably benign	Het
Zfhx4	A	G	3: 5,307,107 (GRCm39)	D111G	probably damaging	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	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
R4586:Or4c113	UTSW	2	88,885,498 (GRCm39)	missense	possibly damaging	0.77
R5041:Or4c113	UTSW	2	88,885,265 (GRCm39)	nonsense	probably null
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'- GCTTCAGCAATGGAAACAAGTCAC -3'
(R):5'- TCATGTACAGCCCTGCACTG -3'

Sequencing Primer
(F):5'- TGATCAATGACATTGGGTCCAC -3'
(R):5'- TGCACTGCTGGGATCCC -3'

Posted On

2016-06-15