Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Or4f6'

395744

Institutional Source

Beutler Lab

Gene Symbol

Or4f6

Ensembl Gene

ENSMUSG00000108827

Gene Name

olfactory receptor family 4 subfamily F member 6

Synonyms

Olfr1310, MOR245-3, GA_x6K02T2Q125-73056609-73055671

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111838591-111839529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111838937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 198 (M198K)

Ref Sequence

ENSEMBL: ENSMUSP00000149701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207169] [ENSMUST00000213559]

AlphaFold

Q8VF85

Predicted Effect

probably damaging
Transcript: ENSMUST00000099602
AA Change: M198K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097197
Gene: ENSMUSG00000074949
AA Change: M198K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	7.7e-41	PFAM
Pfam:7TM_GPCR_Srsx	35	301	3.3e-8	PFAM
Pfam:7tm_1	41	287	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207169
AA Change: M198K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213559
AA Change: M198K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.5542

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,963,559 (GRCm39)	I72V	probably benign	Het
Aadacl3	G	A	4: 144,182,640 (GRCm39)	P276L	possibly damaging	Het
Acp6	T	A	3: 97,075,305 (GRCm39)	S180T	probably benign	Het
Adgrd1	A	T	5: 129,221,053 (GRCm39)	R449*	probably null	Het
Ak1	T	C	2: 32,523,460 (GRCm39)	V176A	probably damaging	Het
Capzb	A	T	4: 139,015,125 (GRCm39)	D226V	possibly damaging	Het
Cd34	A	T	1: 194,630,338 (GRCm39)		probably benign	Het
Cdh15	C	A	8: 123,591,087 (GRCm39)	D445E	possibly damaging	Het
Chil4	A	G	3: 106,109,913 (GRCm39)	F367L	probably damaging	Het
Clstn2	T	C	9: 97,365,132 (GRCm39)	Y458C	probably damaging	Het
Cplane2	A	G	4: 140,944,696 (GRCm39)	I82M	probably benign	Het
Ctsw	T	C	19: 5,518,486 (GRCm39)	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,706,255 (GRCm39)	D50G	probably benign	Het
Dnah14	A	G	1: 181,584,799 (GRCm39)	K3177E	probably benign	Het
Ehd1	T	C	19: 6,327,251 (GRCm39)	F83L	probably benign	Het
Eif5a2	G	A	3: 28,836,886 (GRCm39)	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,751,238 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,975,066 (GRCm39)	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984 (GRCm39)	G493D	probably damaging	Het
Gm11596	C	T	11: 99,683,698 (GRCm39)	G141R	unknown	Het
Gpi-ps	T	G	8: 5,690,130 (GRCm39)		noncoding transcript	Het
H2-Q4	T	C	17: 35,599,417 (GRCm39)	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,382,490 (GRCm39)		probably null	Het
Kif2c	A	T	4: 117,032,066 (GRCm39)		probably benign	Het
Klrb1-ps1	C	T	6: 129,096,751 (GRCm39)		noncoding transcript	Het
Krtap9-5	A	T	11: 99,840,294 (GRCm39)	T332S	unknown	Het
Lrrc39	A	T	3: 116,373,189 (GRCm39)	E283V	probably benign	Het
Mdga1	A	G	17: 30,069,528 (GRCm39)	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,202,710 (GRCm39)	V425M	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Muc3a	T	A	5: 137,244,997 (GRCm39)	T159S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,642 (GRCm39)	I295F	probably damaging	Het
Or4a79	T	A	2: 89,551,745 (GRCm39)	T237S	probably damaging	Het
Pcdhga4	G	A	18: 37,818,648 (GRCm39)	V66I	probably benign	Het
Pdhx	T	C	2: 102,871,422 (GRCm39)	T203A	probably damaging	Het
Pdss1	A	G	2: 22,789,929 (GRCm39)		probably null	Het
Pdxk	G	T	10: 78,286,141 (GRCm39)	Q103K	probably benign	Het
Peg3	A	G	7: 6,711,419 (GRCm39)	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,187,093 (GRCm39)	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990 (GRCm39)		probably benign	Het
Poc1b	C	T	10: 98,943,703 (GRCm39)	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,060,001 (GRCm39)	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,680 (GRCm39)	F189S	probably damaging	Het
Rbks	T	A	5: 31,807,795 (GRCm39)	Y99*	probably null	Het
Sh3rf2	G	T	18: 42,186,989 (GRCm39)	C36F	probably damaging	Het
Spock3	T	A	8: 63,798,889 (GRCm39)	N303K	probably damaging	Het
Tasor2	C	T	13: 3,626,357 (GRCm39)	V1198I	probably benign	Het
Tcaf2	T	C	6: 42,606,401 (GRCm39)	T518A	probably benign	Het
Tmem163	A	T	1: 127,428,013 (GRCm39)	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,097,094 (GRCm39)	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,199,280 (GRCm39)		noncoding transcript	Het
Unc5d	C	T	8: 29,184,704 (GRCm39)	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,346 (GRCm39)	M31L	probably benign	Het
Vrtn	C	A	12: 84,696,248 (GRCm39)	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,298,008 (GRCm39)	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,602,421 (GRCm39)	R458H	probably damaging	Het

Other mutations in Or4f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Or4f6	APN	2	111,839,361 (GRCm39)	missense	possibly damaging	0.86
IGL02700:Or4f6	APN	2	111,839,036 (GRCm39)	missense	probably benign	0.04
IGL03008:Or4f6	APN	2	111,838,868 (GRCm39)	missense	possibly damaging	0.95
IGL03121:Or4f6	APN	2	111,838,953 (GRCm39)	missense	probably benign	0.02
R0025:Or4f6	UTSW	2	111,839,365 (GRCm39)	missense	probably damaging	0.98
R1624:Or4f6	UTSW	2	111,838,877 (GRCm39)	missense	probably damaging	1.00
R1851:Or4f6	UTSW	2	111,839,036 (GRCm39)	missense	probably benign	0.04
R3872:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R3873:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R3874:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R4651:Or4f6	UTSW	2	111,838,595 (GRCm39)	missense	probably damaging	1.00
R4652:Or4f6	UTSW	2	111,838,595 (GRCm39)	missense	probably damaging	1.00
R4834:Or4f6	UTSW	2	111,839,276 (GRCm39)	missense	probably damaging	1.00
R7262:Or4f6	UTSW	2	111,838,902 (GRCm39)	missense	probably damaging	1.00
R7339:Or4f6	UTSW	2	111,838,820 (GRCm39)	missense	probably damaging	1.00
R7657:Or4f6	UTSW	2	111,839,093 (GRCm39)	missense	probably benign	0.02
R7798:Or4f6	UTSW	2	111,838,617 (GRCm39)	missense	probably benign
R7875:Or4f6	UTSW	2	111,839,192 (GRCm39)	missense	probably benign	0.32
R8869:Or4f6	UTSW	2	111,838,596 (GRCm39)	missense	possibly damaging	0.88
R9689:Or4f6	UTSW	2	111,839,124 (GRCm39)	missense	probably benign	0.29
X0027:Or4f6	UTSW	2	111,839,169 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4f6	UTSW	2	111,838,802 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATGTGATGTTGGAAATGGCC -3'
(R):5'- TACCTGACCATCATGAGCCC -3'

Sequencing Primer
(F):5'- GATGTTGGAAATGGCCATGTATAG -3'
(R):5'- CATCATGAGCCCACAAAAGTG -3'

Posted On

2016-06-21