Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Or4k77'

30457

Institutional Source

Beutler Lab

Gene Symbol

Or4k77

Ensembl Gene

ENSMUSG00000109322

Gene Name

olfactory receptor family 4 subfamily K member 77

Synonyms

MOR248-19, Olfr1283, GA_x6K02T2Q125-72420217-72421134

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111198979-111199896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111199498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 174 (I174L)

Ref Sequence

ENSEMBL: ENSMUSP00000150510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082167] [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000216637]

AlphaFold

Q7TQY4

Predicted Effect

probably benign
Transcript: ENSMUST00000082167
AA Change: I174L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: I174L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.8e-50	PFAM
Pfam:7tm_1	41	287	9.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090328
AA Change: I174L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: I174L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	3.6e-49	PFAM
Pfam:7tm_1	41	287	3.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204064
AA Change: I174L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: I174L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	298	2.1e-39	PFAM
Pfam:7tm_1	40	286	7.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216637
AA Change: I174L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	probably damaging	Het

Other mutations in Or4k77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Or4k77	APN	2	111,199,496 (GRCm39)	missense	probably benign	0.22
IGL02716:Or4k77	APN	2	111,199,126 (GRCm39)	missense	probably benign	0.04
R0090:Or4k77	UTSW	2	111,199,639 (GRCm39)	missense	probably damaging	1.00
R0141:Or4k77	UTSW	2	111,199,835 (GRCm39)	missense	probably damaging	1.00
R0417:Or4k77	UTSW	2	111,199,450 (GRCm39)	missense	possibly damaging	0.57
R1673:Or4k77	UTSW	2	111,199,552 (GRCm39)	missense	probably benign	0.11
R1970:Or4k77	UTSW	2	111,199,421 (GRCm39)	missense	probably benign	0.19
R2069:Or4k77	UTSW	2	111,199,440 (GRCm39)	missense	probably benign	0.43
R3897:Or4k77	UTSW	2	111,199,106 (GRCm39)	missense	possibly damaging	0.87
R4408:Or4k77	UTSW	2	111,199,625 (GRCm39)	missense	possibly damaging	0.63
R5397:Or4k77	UTSW	2	111,199,285 (GRCm39)	missense	probably benign	0.00
R5888:Or4k77	UTSW	2	111,199,088 (GRCm39)	missense	probably benign
R6281:Or4k77	UTSW	2	111,199,894 (GRCm39)	makesense	probably null
R6323:Or4k77	UTSW	2	111,199,046 (GRCm39)	missense	possibly damaging	0.94
R6801:Or4k77	UTSW	2	111,199,394 (GRCm39)	missense	probably benign	0.22
R7219:Or4k77	UTSW	2	111,199,882 (GRCm39)	missense	probably benign
R7271:Or4k77	UTSW	2	111,199,693 (GRCm39)	missense	probably damaging	1.00
R7438:Or4k77	UTSW	2	111,199,707 (GRCm39)	missense	probably damaging	1.00
R7761:Or4k77	UTSW	2	111,199,138 (GRCm39)	missense	probably benign	0.00
R7792:Or4k77	UTSW	2	111,199,748 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTAATGGCTGTGGTAGGCAACCTC -3'
(R):5'- ACTTGTCAACCCAGGTGATGCTAAC -3'

Sequencing Primer
(F):5'- CATGAGCCAGATCCTCTGTGTG -3'
(R):5'- ACCACTATGATATGGGATGTGC -3'

Posted On

2013-04-24