Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Or4c111'

550802

Institutional Source

Beutler Lab

Gene Symbol

Or4c111

Ensembl Gene

ENSMUSG00000075107

Gene Name

olfactory receptor family 4 subfamily C member 111

Synonyms

Olfr1216, MOR233-9, GA_x6K02T2Q125-50494588-50493653

MMRRC Submission

045193-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88843471-88844406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88844324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 28 (V28E)

Ref Sequence

ENSEMBL: ENSMUSP00000150674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]

AlphaFold

Q7TR05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099800
AA Change: V28E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: V28E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.8e-46	PFAM
Pfam:7tm_1	39	286	4.2e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216000
AA Change: V28E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217000
AA Change: V28E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	probably benign	Het

Other mutations in Or4c111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Or4c111	APN	2	88,844,268 (GRCm39)	missense	probably benign	0.22
IGL00895:Or4c111	APN	2	88,843,953 (GRCm39)	missense	probably benign	0.13
IGL01634:Or4c111	APN	2	88,843,788 (GRCm39)	missense	probably damaging	0.99
IGL01844:Or4c111	APN	2	88,843,814 (GRCm39)	missense	possibly damaging	0.95
IGL02036:Or4c111	APN	2	88,843,823 (GRCm39)	missense	probably benign	0.00
IGL02102:Or4c111	APN	2	88,843,470 (GRCm39)	utr 3 prime	probably benign
IGL02194:Or4c111	APN	2	88,844,231 (GRCm39)	missense	probably damaging	1.00
IGL02483:Or4c111	APN	2	88,843,547 (GRCm39)	missense	probably damaging	1.00
IGL02745:Or4c111	APN	2	88,844,232 (GRCm39)	missense	probably damaging	1.00
IGL02829:Or4c111	APN	2	88,844,021 (GRCm39)	missense	probably damaging	1.00
IGL03113:Or4c111	APN	2	88,844,379 (GRCm39)	missense	probably damaging	1.00
IGL03324:Or4c111	APN	2	88,843,903 (GRCm39)	nonsense	probably null
R0102:Or4c111	UTSW	2	88,844,015 (GRCm39)	missense	probably damaging	1.00
R0304:Or4c111	UTSW	2	88,843,632 (GRCm39)	missense	probably damaging	1.00
R1184:Or4c111	UTSW	2	88,844,057 (GRCm39)	missense	probably damaging	0.99
R1484:Or4c111	UTSW	2	88,843,713 (GRCm39)	nonsense	probably null
R1560:Or4c111	UTSW	2	88,843,550 (GRCm39)	missense	probably damaging	1.00
R1823:Or4c111	UTSW	2	88,843,722 (GRCm39)	missense	probably benign	0.02
R1911:Or4c111	UTSW	2	88,843,565 (GRCm39)	missense	probably damaging	1.00
R2245:Or4c111	UTSW	2	88,843,493 (GRCm39)	missense	probably benign
R2331:Or4c111	UTSW	2	88,844,265 (GRCm39)	missense	probably benign
R3859:Or4c111	UTSW	2	88,844,405 (GRCm39)	start codon destroyed	probably null	1.00
R4579:Or4c111	UTSW	2	88,843,488 (GRCm39)	missense	probably benign
R5022:Or4c111	UTSW	2	88,844,387 (GRCm39)	missense	probably damaging	0.96
R5353:Or4c111	UTSW	2	88,844,099 (GRCm39)	missense	probably benign	0.00
R5894:Or4c111	UTSW	2	88,844,399 (GRCm39)	missense	probably damaging	1.00
R6240:Or4c111	UTSW	2	88,843,970 (GRCm39)	missense	probably benign	0.03
R7652:Or4c111	UTSW	2	88,843,893 (GRCm39)	missense	probably benign	0.01
R8243:Or4c111	UTSW	2	88,844,051 (GRCm39)	missense	probably benign	0.39
R8752:Or4c111	UTSW	2	88,844,231 (GRCm39)	missense	probably damaging	1.00
R9062:Or4c111	UTSW	2	88,843,548 (GRCm39)	missense	probably damaging	1.00
R9472:Or4c111	UTSW	2	88,843,517 (GRCm39)	missense	possibly damaging	0.81
R9628:Or4c111	UTSW	2	88,843,670 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGGAGATGGTCTTCTTCTCATG -3'
(R):5'- CCTCAATGCAAATGTATCTATTCGC -3'

Sequencing Primer
(F):5'- GTAAGAAGTCTACAACCATCTTGGG -3'
(R):5'- TGCAAATGTATCTATTCGCATAAGG -3'

Posted On

2019-05-15