Mutagenetix > Incidental Mutation

Incidental Mutation 'R7758:Or4c120'

597652

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

045814-MU

Accession Numbers

Essential gene?

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

Stock #

R7758 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89000563-89001589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89001485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 24 (I24L)

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: I24L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: I24L

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: I24L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000217054
AA Change: I24L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (48/50)

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
Abca4	A	G	3: 121,921,816 (GRCm39)	D1124G	probably damaging	Het
Actr10	A	G	12: 70,989,100 (GRCm39)	H73R	probably damaging	Het
Ak9	G	T	10: 41,223,128 (GRCm39)	A424S		Het
Alkbh5	G	A	11: 60,429,903 (GRCm39)	V219M	probably damaging	Het
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bfar	T	C	16: 13,519,985 (GRCm39)	F406S	possibly damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Colec11	A	C	12: 28,645,241 (GRCm39)		probably null	Het
Crh	T	A	3: 19,748,453 (GRCm39)	Y63F	probably damaging	Het
Dmbt1	C	T	7: 130,722,926 (GRCm39)	H1946Y	unknown	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm17019	A	G	5: 15,079,300 (GRCm39)	*256Q	probably null	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
H3c13	A	G	3: 96,176,203 (GRCm39)	K65R	possibly damaging	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Klhl35	C	T	7: 99,122,425 (GRCm39)	T87I	unknown	Het
Kmt2e	A	G	5: 23,701,068 (GRCm39)	T761A	possibly damaging	Het
Lca5l	C	T	16: 95,980,037 (GRCm39)	R36H	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Prss43	G	A	9: 110,658,459 (GRCm39)	G253E	possibly damaging	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Slc22a15	A	G	3: 101,805,251 (GRCm39)		probably null	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Sphk1	A	G	11: 116,427,063 (GRCm39)	R340G	possibly damaging	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Taok3	A	G	5: 117,388,972 (GRCm39)	E459G	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGCCAG	AGCCAGCGCCAG	4: 43,177,344 (GRCm39)		probably benign	Het
Vmn1r201	A	G	13: 22,658,989 (GRCm39)	T68A	not run	Het
Wdr59	T	A	8: 112,207,117 (GRCm39)	I534F		Het
Ylpm1	A	G	12: 85,061,796 (GRCm39)	I566V	unknown	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zcchc14	T	C	8: 122,331,428 (GRCm39)	K645R	unknown	Het
Zfp704	C	T	3: 9,509,282 (GRCm39)	V388M	possibly damaging	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	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
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
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
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'- TGCAACATTCAAAGGAGATGGTC -3'
(R):5'- AAGGGCACATCAACTTGTTCATAG -3'

Sequencing Primer
(F):5'- AAGTCTACAATCATCTTGGGGGTGAC -3'
(R):5'- GCACATCAACTTGTTCATAGTAATTC -3'

Posted On

2019-11-26