Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4458001:Or4c120'

555898

Institutional Source

Beutler Lab

Gene Symbol

Or4c120

Ensembl Gene

ENSMUSG00000101918

Gene Name

olfactory receptor family 4 subfamily C member 120

Synonyms

Olfr1225, GA_x6K02T2Q125-50650037-50649102, MOR233-11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

PIT4458001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89000563-89001589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89000977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 193 (I193K)

Ref Sequence

ENSEMBL: ENSMUSP00000149236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000188861] [ENSMUST00000216961] [ENSMUST00000217054]

AlphaFold

Q7TR01

Predicted Effect

probably benign
Transcript: ENSMUST00000188861
AA Change: I193K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: I193K

Domain	Start	End	E-Value	Type
low complexity region	24	32	N/A	INTRINSIC
Pfam:7tm_1	39	289	5.5e-24	PFAM
Pfam:7tm_4	138	287	2.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216961
AA Change: I193K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000217054
AA Change: I193K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 73.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,248,304 (GRCm39)	V2684L	probably benign	Het
Adamts9	T	A	6: 92,866,886 (GRCm39)	I718F	probably damaging	Het
Adcyap1r1	A	G	6: 55,455,067 (GRCm39)	D110G	probably benign	Het
Adgrd1	G	A	5: 129,208,641 (GRCm39)	G281D	probably damaging	Het
Afg1l	A	T	10: 42,330,366 (GRCm39)	C100*	probably null	Het
Atp2a2	G	A	5: 122,595,372 (GRCm39)	Q993*	probably null	Het
Baz1a	A	G	12: 54,977,095 (GRCm39)	M389T	probably benign	Het
Btnl4	T	A	17: 34,693,242 (GRCm39)	M58L	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cpeb1	A	T	7: 80,998,180 (GRCm39)	F533Y	probably damaging	Het
Ctnna1	T	A	18: 35,308,179 (GRCm39)	N166K	possibly damaging	Het
Ecsit	T	C	9: 21,987,580 (GRCm39)	H153R	probably damaging	Het
Gbp8	T	C	5: 105,162,955 (GRCm39)	K480E	probably benign	Het
Glyat	A	T	19: 12,625,373 (GRCm39)	T66S	probably benign	Het
Gm1110	T	C	9: 26,792,124 (GRCm39)	Q632R	probably benign	Het
Gm12185	C	T	11: 48,798,738 (GRCm39)	R585Q	probably damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Gm7489	A	C	15: 53,749,195 (GRCm39)	E89A	unknown	Het
Grb7	C	T	11: 98,344,655 (GRCm39)	Q353*	probably null	Het
Ifi207	G	A	1: 173,562,738 (GRCm39)	T136I	unknown	Het
Ighv3-1	T	C	12: 113,928,224 (GRCm39)	Y45C	probably benign	Het
Ing5	A	G	1: 93,739,668 (GRCm39)	M92V	possibly damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Lmo7	C	T	14: 102,124,923 (GRCm39)	Q583*	probably null	Het
Lrrc37a	T	C	11: 103,395,338 (GRCm39)	D29G	probably benign	Het
Mpdz	G	T	4: 81,337,263 (GRCm39)	A10D	probably damaging	Het
Myh4	A	G	11: 67,131,821 (GRCm39)	M94V	possibly damaging	Het
Nectin2	A	C	7: 19,472,252 (GRCm39)	L46V	probably benign	Het
Nynrin	A	T	14: 56,101,425 (GRCm39)	T365S	probably benign	Het
Pde4b	A	C	4: 102,459,875 (GRCm39)	E570A	probably damaging	Het
Phf3	T	C	1: 30,855,622 (GRCm39)	H988R	probably damaging	Het
Ppfia2	A	G	10: 106,763,708 (GRCm39)	K1234E	probably benign	Het
Prl7c1	A	T	13: 27,957,741 (GRCm39)	M233K	probably benign	Het
Prp2	C	T	6: 132,577,510 (GRCm39)	P266S	unknown	Het
Ralgds	T	C	2: 28,432,486 (GRCm39)	L160P	probably damaging	Het
Rasa1	A	T	13: 85,375,237 (GRCm39)	M664K	possibly damaging	Het
Ryr2	T	C	13: 11,570,334 (GRCm39)	T4930A	probably benign	Het
Senp8	T	C	9: 59,644,763 (GRCm39)	Y131C	probably damaging	Het
Sp100	A	G	1: 85,635,837 (GRCm39)	I547M	probably benign	Het
Spata20	A	G	11: 94,375,434 (GRCm39)	M120T	probably damaging	Het
Spata31	A	G	13: 65,069,664 (GRCm39)	H604R	probably benign	Het
Sycp1	A	T	3: 102,842,149 (GRCm39)	S53T	probably benign	Het
Tgm1	T	C	14: 55,950,022 (GRCm39)	D62G	unknown	Het
Trpm1	G	C	7: 63,918,309 (GRCm39)	E1434Q	possibly damaging	Het
Tshb	A	T	3: 102,685,480 (GRCm39)	Y50N	probably damaging	Het
Wdr17	A	T	8: 55,126,614 (GRCm39)	Y413*	probably null	Het
Zdhhc16	G	A	19: 41,926,209 (GRCm39)	G55R	possibly damaging	Het

Other mutations in Or4c120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03230:Or4c120	APN	2	89,001,433 (GRCm39)	missense	possibly damaging	0.53
IGL03381:Or4c120	APN	2	89,001,523 (GRCm39)	missense	possibly damaging	0.49
IGL03147:Or4c120	UTSW	2	89,001,316 (GRCm39)	missense	probably benign	0.03
R0100:Or4c120	UTSW	2	89,001,431 (GRCm39)	missense	probably benign	0.00
R0373:Or4c120	UTSW	2	89,000,757 (GRCm39)	missense	probably benign	0.02
R0482:Or4c120	UTSW	2	89,000,975 (GRCm39)	missense	probably benign	0.37
R0491:Or4c120	UTSW	2	89,000,704 (GRCm39)	missense	probably benign	0.07
R0548:Or4c120	UTSW	2	89,000,992 (GRCm39)	missense	probably damaging	1.00
R1123:Or4c120	UTSW	2	89,001,212 (GRCm39)	missense	possibly damaging	0.89
R1511:Or4c120	UTSW	2	89,001,281 (GRCm39)	missense	probably damaging	1.00
R1565:Or4c120	UTSW	2	89,000,971 (GRCm39)	missense	probably benign	0.01
R4204:Or4c120	UTSW	2	89,001,124 (GRCm39)	missense	probably benign	0.13
R4580:Or4c120	UTSW	2	89,001,544 (GRCm39)	missense	probably benign	0.01
R4669:Or4c120	UTSW	2	89,001,245 (GRCm39)	missense	probably damaging	1.00
R5137:Or4c120	UTSW	2	89,000,744 (GRCm39)	missense	probably benign	0.00
R6391:Or4c120	UTSW	2	89,000,942 (GRCm39)	missense	probably benign	0.03
R6396:Or4c120	UTSW	2	89,001,034 (GRCm39)	missense	probably damaging	0.99
R7103:Or4c120	UTSW	2	89,000,827 (GRCm39)	missense	possibly damaging	0.77
R7187:Or4c120	UTSW	2	89,001,714 (GRCm39)	start gained	probably benign
R7394:Or4c120	UTSW	2	89,000,705 (GRCm39)	missense	probably benign
R7758:Or4c120	UTSW	2	89,001,485 (GRCm39)	missense	probably benign	0.00
R8073:Or4c120	UTSW	2	89,001,284 (GRCm39)	missense	probably damaging	0.99
R9012:Or4c120	UTSW	2	89,000,929 (GRCm39)	missense	possibly damaging	0.90
R9632:Or4c120	UTSW	2	89,001,752 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCAACACTGTGGTAAATACAAC -3'
(R):5'- GAGGCTCTGTGGCAATCTTG -3'

Sequencing Primer
(F):5'- ATGCAGATATAGGTCGTGCATATG -3'
(R):5'- GCAATCTTGTGATGGTGTCC -3'

Posted On

2019-06-07