Mutagenetix > Incidental Mutation

Incidental Mutation 'R2860:Or4f56'

252802

Institutional Source

Beutler Lab

Gene Symbol

Or4f56

Ensembl Gene

ENSMUSG00000074955

Gene Name

olfactory receptor family 4 subfamily F member 56

Synonyms

MOR245-8, Olfr1305, GA_x6K02T2Q125-72930843-72929905

MMRRC Submission

040450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111703260-111704198 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 111703818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 127 (C127*)

Ref Sequence

ENSEMBL: ENSMUSP00000149852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099608] [ENSMUST00000213405] [ENSMUST00000213737]

AlphaFold

A2AVW3

Predicted Effect

probably null
Transcript: ENSMUST00000099608
AA Change: C127*

SMART Domains

Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: C127*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.4e-41	PFAM
Pfam:7TM_GPCR_Srsx	35	302	6.8e-7	PFAM
Pfam:7tm_1	41	287	4.1e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213405
AA Change: C127*

Predicted Effect

probably null
Transcript: ENSMUST00000213737
AA Change: C127*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216310

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,571,736 (GRCm39)	V1131M	probably benign	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Ano1	C	T	7: 144,143,749 (GRCm39)	G1011E	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Ash1l	T	C	3: 88,961,785 (GRCm39)	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277 (GRCm39)	D250G	probably damaging	Het
Atr	A	G	9: 95,756,296 (GRCm39)	N836S	probably benign	Het
Bltp1	G	A	3: 37,019,998 (GRCm39)	S2079N	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
C2	T	C	17: 35,082,854 (GRCm39)	T471A	possibly damaging	Het
C4b	T	A	17: 34,953,732 (GRCm39)	S959C	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Capn2	A	T	1: 182,300,485 (GRCm39)		probably benign	Het
Cd38	A	G	5: 44,058,775 (GRCm39)	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,311,085 (GRCm39)	R202G	probably damaging	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cps1	A	T	1: 67,205,534 (GRCm39)	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,392,309 (GRCm39)	Y215*	probably null	Het
Dennd10	T	C	19: 60,803,232 (GRCm39)	S80P	probably benign	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gab1	T	C	8: 81,511,382 (GRCm39)	M488V	probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gbx2	C	T	1: 89,856,853 (GRCm39)	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Gpn1	A	G	5: 31,654,664 (GRCm39)	D72G	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,401,442 (GRCm39)	L189R	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Inka1	T	C	9: 107,861,603 (GRCm39)	T238A	probably benign	Het
Itsn2	C	A	12: 4,750,315 (GRCm39)		probably benign	Het
Kcnn1	T	C	8: 71,299,179 (GRCm39)	K487R	probably benign	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lama5	T	C	2: 179,829,040 (GRCm39)	T2034A	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or5p66	A	G	7: 107,886,169 (GRCm39)	S55P	probably damaging	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parp16	G	T	9: 65,141,086 (GRCm39)	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,259,500 (GRCm39)	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,784,420 (GRCm39)	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Plin4	T	C	17: 56,413,668 (GRCm39)	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pum3	A	T	19: 27,397,525 (GRCm39)		probably benign	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rims1	A	T	1: 22,503,227 (GRCm39)	F653I	probably benign	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,607,979 (GRCm39)	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,386,003 (GRCm39)	V115M	probably damaging	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Sri	A	T	5: 8,117,540 (GRCm39)	Q178L	probably benign	Het
Tex14	T	G	11: 87,365,243 (GRCm39)	D62E	probably damaging	Het
Tshz1	G	T	18: 84,033,105 (GRCm39)	H434Q	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r59	A	G	7: 41,696,427 (GRCm39)	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,454,760 (GRCm39)	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Wiz	G	T	17: 32,580,680 (GRCm39)	T257K	probably damaging	Het
Xirp1	A	G	9: 119,847,444 (GRCm39)	S41P	probably benign	Het
Xirp1	T	C	9: 119,848,881 (GRCm39)	M1V	probably null	Het

Other mutations in Or4f56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Or4f56	APN	2	111,703,295 (GRCm39)	missense	probably benign	0.03
IGL02198:Or4f56	APN	2	111,703,593 (GRCm39)	missense	probably damaging	1.00
IGL02277:Or4f56	APN	2	111,703,925 (GRCm39)	missense	possibly damaging	0.91
IGL02302:Or4f56	APN	2	111,703,887 (GRCm39)	missense	possibly damaging	0.76
IGL03348:Or4f56	APN	2	111,703,493 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Or4f56	UTSW	2	111,703,649 (GRCm39)	missense	probably benign	0.02
R2144:Or4f56	UTSW	2	111,703,768 (GRCm39)	missense	probably damaging	0.96
R2861:Or4f56	UTSW	2	111,703,818 (GRCm39)	nonsense	probably null
R3785:Or4f56	UTSW	2	111,703,831 (GRCm39)	missense	probably damaging	0.99
R4474:Or4f56	UTSW	2	111,703,784 (GRCm39)	missense	possibly damaging	0.52
R4508:Or4f56	UTSW	2	111,703,947 (GRCm39)	missense	probably damaging	1.00
R4540:Or4f56	UTSW	2	111,703,546 (GRCm39)	missense	probably damaging	1.00
R4783:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R4784:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R4785:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R5410:Or4f56	UTSW	2	111,703,637 (GRCm39)	missense	probably damaging	1.00
R5491:Or4f56	UTSW	2	111,703,907 (GRCm39)	missense	probably benign	0.44
R6875:Or4f56	UTSW	2	111,703,306 (GRCm39)	missense	possibly damaging	0.92
R7185:Or4f56	UTSW	2	111,704,167 (GRCm39)	missense	possibly damaging	0.89
R7992:Or4f56	UTSW	2	111,703,280 (GRCm39)	missense	probably benign
R9100:Or4f56	UTSW	2	111,703,606 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCAAGCTTGACAAGTCGTGG -3'
(R):5'- TGGGGCTCTCAAATTCCTGG -3'

Sequencing Primer
(F):5'- CAAGCTTGACAAGTCGTGGTATGTC -3'
(R):5'- CCAGTTTGACAGGAAACTTCATC -3'

Posted On

2014-12-04