Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Or4f56'

559220

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

045237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111703260-111704198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111704167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 11 (E11A)

Ref Sequence

ENSEMBL: ENSMUSP00000149215 (fasta)

Gene Model

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

AlphaFold

A2AVW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099608
AA Change: E11A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: E11A

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

possibly damaging
Transcript: ENSMUST00000213405
AA Change: E11A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213737
AA Change: E11A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	A	11: 117,725,599 (GRCm39)	D95E	possibly damaging	Het
Ak7	A	G	12: 105,708,535 (GRCm39)	E330G	probably damaging	Het
B3gat2	A	C	1: 23,802,272 (GRCm39)	D186A	probably damaging	Het
Baz1a	G	A	12: 55,022,093 (GRCm39)	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,799,779 (GRCm39)	M219K	probably benign	Het
Cd200r1	A	G	16: 44,609,975 (GRCm39)	T65A	probably benign	Het
Cdc14a	T	C	3: 116,087,676 (GRCm39)	E494G	probably benign	Het
Cenpf	A	G	1: 189,385,686 (GRCm39)	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,449,739 (GRCm39)	D117E	probably damaging	Het
Ddr2	C	A	1: 169,814,623 (GRCm39)	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,849,857 (GRCm39)	T93S	probably benign	Het
Eogt	C	T	6: 97,097,139 (GRCm39)	R321H	probably damaging	Het
Fam174c	G	A	10: 80,008,963 (GRCm39)	G55E	probably damaging	Het
Fras1	T	C	5: 96,784,635 (GRCm39)	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8247	A	G	14: 44,823,859 (GRCm39)	I182V		Het
Gpatch2	T	C	1: 186,958,394 (GRCm39)	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,244,859 (GRCm39)	D183G	probably benign	Het
Hspa5	T	C	2: 34,665,138 (GRCm39)	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,094,590 (GRCm39)	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,094,591 (GRCm39)	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,233,472 (GRCm39)	N281T	probably damaging	Het
L1td1	A	G	4: 98,624,855 (GRCm39)	E350G	possibly damaging	Het
Layn	T	C	9: 50,985,173 (GRCm39)	T128A	possibly damaging	Het
Liph	T	C	16: 21,814,089 (GRCm39)	M11V	probably benign	Het
Lrp1b	C	T	2: 40,691,524 (GRCm39)		probably null	Het
Mcrip1	A	C	11: 120,435,505 (GRCm39)		probably null	Het
Myh1	G	A	11: 67,098,285 (GRCm39)	E486K	probably damaging	Het
Nav1	T	C	1: 135,398,746 (GRCm39)	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621 (GRCm38)	K245E	probably benign	Het
Nipal1	T	A	5: 72,824,198 (GRCm39)	S181T	probably damaging	Het
Nme8	A	C	13: 19,862,053 (GRCm39)	L192R	probably damaging	Het
Nol7	G	A	13: 43,560,307 (GRCm39)		probably null	Het
Oas1b	G	A	5: 120,955,837 (GRCm39)	R205H	not run	Het
Or13j1	A	G	4: 43,706,082 (GRCm39)	I162T	possibly damaging	Het
Or5w15	A	G	2: 87,568,489 (GRCm39)	Y60H	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,701 (GRCm39)	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 114,946,305 (GRCm39)	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,344,752 (GRCm39)	M124K	possibly damaging	Het
Prr36	C	T	8: 4,266,458 (GRCm39)	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,814,079 (GRCm39)	A660D	probably damaging	Het
Qsox2	A	G	2: 26,110,718 (GRCm39)	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,308,607 (GRCm39)	Y164F	probably damaging	Het
Rest	C	A	5: 77,430,331 (GRCm39)	H917N	probably benign	Het
Rlig1	T	C	10: 100,425,073 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,315,024 (GRCm39)	C955R		Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,947,963 (GRCm39)	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spo11	T	A	2: 172,823,985 (GRCm39)		probably null	Het
Srd5a3	T	C	5: 76,301,419 (GRCm39)	I216T	probably benign	Het
Tcaf3	T	C	6: 42,570,864 (GRCm39)	N296S	probably benign	Het
Tepsin	T	C	11: 119,984,643 (GRCm39)	D259G	probably damaging	Het
Themis	G	A	10: 28,657,873 (GRCm39)	S300N	probably benign	Het
Trhr2	T	A	8: 123,087,396 (GRCm39)	T15S	probably benign	Het
Uts2r	T	C	11: 121,051,706 (GRCm39)	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,451,035 (GRCm39)	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078 (GRCm39)	T237K	probably benign	Het
Zfp1006	A	T	8: 129,946,502 (GRCm39)	C108S	probably benign	Het
Zfp335	A	G	2: 164,735,164 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,808,974 (GRCm39)	D962E	probably damaging	Het
Zfp60	A	G	7: 27,437,830 (GRCm39)	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464 (GRCm39)	S767L	possibly damaging	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
R2860:Or4f56	UTSW	2	111,703,818 (GRCm39)	nonsense	probably null
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
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'- TTGGGTGCTGCAATGGAAC -3'
(R):5'- TGTGGCCAACAGAATACCATTC -3'

Sequencing Primer
(F):5'- GTAGGGATCAGAAGTGACT -3'
(R):5'- GCCAACAGAATACCATTCACATTTTG -3'

Posted On

2019-06-26