Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Or4c113'

396259

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

042724-MU

Accession Numbers

Essential gene?

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

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88884833-88885768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88885291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 160 (I160V)

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: I160V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: I160V

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: I160V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000215048
AA Change: I160V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000215054
AA Change: I160V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	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
R5124:Or4c113	UTSW	2	88,885,431 (GRCm39)	missense	probably damaging	0.96
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'- AGAACTGTGGGCTCTCAGAG -3'
(R):5'- AAGACCATCTCCTTTGGCTG -3'

Sequencing Primer
(F):5'- TCAGAGAGAACAAAATGACACCATAG -3'
(R):5'- CATCTCCTTTGGCTGTTGCATGATG -3'

Posted On

2016-06-21