Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Or4c120'

550974

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

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

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

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89000563-89001589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89000827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 243 (I243T)

Ref Sequence

ENSEMBL: ENSMUSP00000149236 (fasta)

Gene Model

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

AlphaFold

Q7TR01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188861
AA Change: I243T

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

SMART Domains

Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: I243T

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

possibly damaging
Transcript: ENSMUST00000216961
AA Change: I243T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217054
AA Change: I243T

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

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	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
PIT4458001:Or4c120	UTSW	2	89,000,977 (GRCm39)	missense	probably benign	0.02
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
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'- ATTTACACAGCTAGCACAATATGGG -3'
(R):5'- TGAAGCTTGCCTGCACTGAC -3'

Sequencing Primer
(F):5'- AGTGTTTATCAGAAACTGCAATCAG -3'
(R):5'- GCCTGCACTGACACCTATATATTTG -3'

Posted On

2019-05-15