Mutagenetix > Incidental Mutation

Incidental Mutation 'R7039:Or4c121'

546913

Institutional Source

Beutler Lab

Gene Symbol

Or4c121

Ensembl Gene

ENSMUSG00000075097

Gene Name

olfactory receptor family 4 subfamily C member 121

Synonyms

MOR233-2, Olfr1226, GA_x6K02T2Q125-50672630-50671698

MMRRC Submission

045139-MU

Accession Numbers

Essential gene?

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

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89023444-89024376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89023790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 196 (I196N)

Ref Sequence

ENSEMBL: ENSMUSP00000151855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]

AlphaFold

Q8VGM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099790
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: I196N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	6.5e-47	PFAM
Pfam:7tm_1	39	285	3.4e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214709
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215562
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215987
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216445
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217601
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220416
AA Change: I196N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	T	4: 56,741,022 (GRCm39)	L112Q	probably damaging	Het
Agap3	A	C	5: 24,688,399 (GRCm39)	I396L	probably benign	Het
AI987944	G	T	7: 41,023,880 (GRCm39)	S366R	probably benign	Het
Aox3	A	G	1: 58,215,714 (GRCm39)	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,340,111 (GRCm39)	L407*	probably null	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Brd3	T	C	2: 27,346,929 (GRCm39)	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,790,845 (GRCm39)	D935V	probably damaging	Het
Cenpe	A	G	3: 134,961,217 (GRCm39)	N1904D	probably benign	Het
Cfap74	G	T	4: 155,538,565 (GRCm39)		probably null	Het
Chrdl2	A	G	7: 99,677,879 (GRCm39)	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,348,278 (GRCm39)	R400C	probably benign	Het
Dhfr	G	A	13: 92,491,791 (GRCm39)	V9I	probably benign	Het
Epha4	A	G	1: 77,483,422 (GRCm39)	S196P	probably damaging	Het
Evc2	T	A	5: 37,579,232 (GRCm39)	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,287,561 (GRCm39)	E654V	probably damaging	Het
Fcgbpl1	G	A	7: 27,839,573 (GRCm39)	R462Q	possibly damaging	Het
Fer1l4	C	T	2: 155,878,650 (GRCm39)	V14I	probably benign	Het
Frmd5	A	T	2: 121,378,128 (GRCm39)		probably benign	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Igkv6-13	T	C	6: 70,434,498 (GRCm39)	S116G	probably benign	Het
Iscu	T	C	5: 113,914,833 (GRCm39)	V115A	possibly damaging	Het
Jade2	C	A	11: 51,719,186 (GRCm39)	K253N	probably damaging	Het
Katnal2	A	G	18: 77,134,868 (GRCm39)		probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Magi3	T	C	3: 103,958,699 (GRCm39)	D462G	probably damaging	Het
Map3k14	T	C	11: 103,111,861 (GRCm39)	N940S	probably damaging	Het
Masp2	A	T	4: 148,687,043 (GRCm39)	M1L	probably benign	Het
Mga	G	A	2: 119,763,159 (GRCm39)	V1272I	probably benign	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Msto1	A	C	3: 88,818,697 (GRCm39)	V287G	probably damaging	Het
Myo5b	T	A	18: 74,834,599 (GRCm39)	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946 (GRCm38)	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700 (GRCm38)	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130 (GRCm39)	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,267,367 (GRCm39)	T766S	probably benign	Het
Nol10	T	A	12: 17,479,185 (GRCm39)	S672T	possibly damaging	Het
Or4a80	A	T	2: 89,583,095 (GRCm39)	F26I	probably benign	Het
Or8d1b	T	A	9: 38,887,283 (GRCm39)	F104I	probably damaging	Het
Or8j3c	A	T	2: 86,253,177 (GRCm39)	I281K	possibly damaging	Het
Patj	T	A	4: 98,457,315 (GRCm39)	N1272K	probably damaging	Het
Peak1	T	C	9: 56,165,093 (GRCm39)	E945G	probably benign	Het
Peg3	C	T	7: 6,720,858 (GRCm39)	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,554,089 (GRCm39)	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,192,242 (GRCm39)	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,286,054 (GRCm39)	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,239,853 (GRCm39)	S908L	probably damaging	Het
Psmc3	A	G	2: 90,885,391 (GRCm39)	N60S	probably benign	Het
Rapgef1	T	A	2: 29,616,226 (GRCm39)	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,659,449 (GRCm39)	H54L	probably benign	Het
Rhobtb3	G	A	13: 76,020,572 (GRCm39)	R577*	probably null	Het
Safb2	T	C	17: 56,871,594 (GRCm39)	E218G	possibly damaging	Het
Scaf1	C	T	7: 44,657,850 (GRCm39)	R343H	probably damaging	Het
Snx24	G	A	18: 53,473,307 (GRCm39)		probably null	Het
Tbc1d1	T	C	5: 64,442,100 (GRCm39)	F707L	probably benign	Het
Tcaf2	T	C	6: 42,603,074 (GRCm39)	T829A	probably damaging	Het
Tcea2	C	T	2: 181,328,711 (GRCm39)	Q248*	probably null	Het
Tcirg1	A	T	19: 3,946,666 (GRCm39)	L729Q	probably damaging	Het
Thap3	A	G	4: 152,070,149 (GRCm39)	F82L	probably damaging	Het
Ttk	T	A	9: 83,750,145 (GRCm39)	M700K	probably damaging	Het
Ubap2l	G	T	3: 89,909,662 (GRCm39)	P56H	probably damaging	Het
Ubr2	A	G	17: 47,321,139 (GRCm39)	S3P	probably benign	Het
Uchl3	C	T	14: 101,923,128 (GRCm39)		probably benign	Het
Vmn2r111	T	A	17: 22,767,165 (GRCm39)	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,363,082 (GRCm39)	D567E	probably damaging	Het
Vps13c	T	G	9: 67,845,045 (GRCm39)	L2043R	probably damaging	Het
Zan	T	G	5: 137,398,396 (GRCm39)	D4212A	unknown	Het
Zap70	C	T	1: 36,817,832 (GRCm39)	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,321,478 (GRCm39)	M461K	possibly damaging	Het
Zfat	T	G	15: 68,052,211 (GRCm39)	I528L	probably benign	Het
Zfp532	T	G	18: 65,771,834 (GRCm39)	V784G	probably benign	Het

Other mutations in Or4c121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Or4c121	APN	2	89,023,848 (GRCm39)	missense	probably benign	0.00
IGL01073:Or4c121	APN	2	89,023,481 (GRCm39)	missense	possibly damaging	0.78
IGL01539:Or4c121	APN	2	89,023,836 (GRCm39)	missense	possibly damaging	0.81
IGL01549:Or4c121	APN	2	89,024,133 (GRCm39)	missense	probably benign	0.01
IGL02040:Or4c121	APN	2	89,023,907 (GRCm39)	missense	probably benign	0.16
IGL02174:Or4c121	APN	2	89,023,712 (GRCm39)	missense	probably benign	0.01
IGL02322:Or4c121	APN	2	89,023,806 (GRCm39)	missense	probably damaging	0.99
IGL02881:Or4c121	APN	2	89,023,985 (GRCm39)	missense	probably damaging	1.00
IGL03336:Or4c121	APN	2	89,024,241 (GRCm39)	missense	probably benign	0.16
R1565:Or4c121	UTSW	2	89,024,227 (GRCm39)	missense	probably damaging	0.99
R3429:Or4c121	UTSW	2	89,023,617 (GRCm39)	missense	probably benign	0.04
R5668:Or4c121	UTSW	2	89,024,170 (GRCm39)	missense	possibly damaging	0.60
R6404:Or4c121	UTSW	2	89,023,906 (GRCm39)	missense	probably damaging	1.00
R6418:Or4c121	UTSW	2	89,023,823 (GRCm39)	missense	probably damaging	0.97
R7863:Or4c121	UTSW	2	89,024,295 (GRCm39)	missense	probably benign
R8097:Or4c121	UTSW	2	89,023,976 (GRCm39)	missense	probably damaging	1.00
R8544:Or4c121	UTSW	2	89,024,312 (GRCm39)	missense	possibly damaging	0.68
R8792:Or4c121	UTSW	2	89,024,231 (GRCm39)	missense	probably benign	0.00
R9291:Or4c121	UTSW	2	89,024,138 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGATTGTGGCAAATACAAGTGC -3'
(R):5'- ATGACCAGGAGACTCTGTGG -3'

Sequencing Primer
(F):5'- CAGCAGGTCGAGCATATATTAATATG -3'
(R):5'- CCAGGAGACTCTGTGGCATTTTG -3'

Posted On

2019-05-13