Mutagenetix > Incidental Mutation

Incidental Mutation 'R8678:Or4c122'

661493

Institutional Source

Beutler Lab

Gene Symbol

Or4c122

Ensembl Gene

ENSMUSG00000099486

Gene Name

olfactory receptor family 4 subfamily C member 122

Synonyms

GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1

MMRRC Submission

068533-MU

Accession Numbers

Essential gene?

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

Stock #

R8678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89079065-89080036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89079351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 217 (Y217F)

Ref Sequence

ENSEMBL: ENSMUSP00000150878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000190757] [ENSMUST00000215447] [ENSMUST00000216392]

AlphaFold

Q8VGM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000190757
AA Change: Y229F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: Y229F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	51	298	2.6e-27	PFAM
Pfam:7tm_4	150	292	2.9e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215447
AA Change: Y217F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216392
AA Change: Y217F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.5010

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	T	16: 20,184,685 (GRCm39)	M991I	probably benign	Het
Acacb	T	A	5: 114,340,032 (GRCm39)	Y814*	probably null	Het
Alg2	A	G	4: 47,474,108 (GRCm39)	F60S	probably damaging	Het
Aoc1l1	C	T	6: 48,953,158 (GRCm39)	T361I	possibly damaging	Het
Arc	A	G	15: 74,543,539 (GRCm39)	L228P	probably damaging	Het
Bnip1	T	A	17: 27,008,923 (GRCm39)		probably benign	Het
Cacng4	A	G	11: 107,625,925 (GRCm39)	L222P	probably damaging	Het
Calb2	A	T	8: 110,874,275 (GRCm39)	V182E	possibly damaging	Het
Cfap44	A	T	16: 44,295,636 (GRCm39)	I1645F	probably damaging	Het
Col6a5	T	C	9: 105,811,551 (GRCm39)	D656G	unknown	Het
Csmd3	A	G	15: 47,499,849 (GRCm39)	S2096P		Het
Cyp2c70	A	T	19: 40,156,016 (GRCm39)	I178N	probably damaging	Het
Dmxl1	C	T	18: 50,004,759 (GRCm39)	Q936*	probably null	Het
Dnaaf3	A	T	7: 4,533,814 (GRCm39)	F94Y	probably damaging	Het
Eid2b	C	T	7: 27,977,480 (GRCm39)	T92I	possibly damaging	Het
Ercc8	T	C	13: 108,306,027 (GRCm39)		probably null	Het
Fank1	G	A	7: 133,463,957 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,312,376 (GRCm39)	E324*	probably null	Het
Fcnb	A	G	2: 27,968,361 (GRCm39)	F199L	possibly damaging	Het
Galnt16	A	G	12: 80,630,822 (GRCm39)	D300G	probably damaging	Het
Gli1	T	C	10: 127,173,260 (GRCm39)	S133G	probably null	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,666 (GRCm39)	D412G	probably benign	Het
Klhl20	A	T	1: 160,936,997 (GRCm39)	I126N	probably damaging	Het
Lama1	A	G	17: 68,124,098 (GRCm39)	E2841G		Het
Lmtk3	T	A	7: 45,435,975 (GRCm39)	C85*	probably null	Het
Madd	T	C	2: 91,006,610 (GRCm39)	Y328C	probably damaging	Het
Map1a	G	T	2: 121,137,737 (GRCm39)	R2851L	probably damaging	Het
Mctp2	T	C	7: 71,752,955 (GRCm39)	D766G	probably damaging	Het
Mei4	T	A	9: 81,809,638 (GRCm39)	F240L	probably damaging	Het
Mgat3	A	T	15: 80,096,472 (GRCm39)	Y433F	possibly damaging	Het
Muc20	T	A	16: 32,617,789 (GRCm39)		probably benign	Het
Nat8f1	A	G	6: 85,887,738 (GRCm39)	V74A	probably benign	Het
Nfe2l3	A	G	6: 51,435,153 (GRCm39)	D571G	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nphs1	T	C	7: 30,163,284 (GRCm39)	L480S	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or2ag2	A	G	7: 106,485,280 (GRCm39)	V248A	probably damaging	Het
Or8j3b	C	T	2: 86,205,069 (GRCm39)	R229H	probably benign	Het
Parp10	C	A	15: 76,117,599 (GRCm39)	C929F	probably damaging	Het
Pcdhb21	A	G	18: 37,647,939 (GRCm39)	E356G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,623,468 (GRCm39)	R600*	probably null	Het
Ppp1r13l	C	A	7: 19,109,697 (GRCm39)	T706K	probably benign	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Ppp1r16b	G	A	2: 158,598,942 (GRCm39)	R334Q	probably damaging	Het
Ppp1r7	A	G	1: 93,280,364 (GRCm39)	Q188R	probably benign	Het
Pramel26	C	A	4: 143,538,576 (GRCm39)	A132S	probably benign	Het
Prkdc	G	T	16: 15,526,796 (GRCm39)		probably null	Het
Prss33	T	C	17: 24,053,723 (GRCm39)	D118G	probably benign	Het
Rab3gap2	T	G	1: 184,983,281 (GRCm39)	I473M	probably damaging	Het
Rbm44	A	G	1: 91,080,103 (GRCm39)	E97G	probably damaging	Het
Ros1	A	G	10: 51,963,998 (GRCm39)	M1775T	probably benign	Het
Ryr1	T	A	7: 28,776,489 (GRCm39)	M2216L	probably damaging	Het
Scn7a	A	G	2: 66,574,041 (GRCm39)		probably benign	Het
Slc31a2	G	A	4: 62,210,896 (GRCm39)	V12M	probably benign	Het
Slc35b1	T	C	11: 95,278,646 (GRCm39)	Y177H	probably damaging	Het
Slfn9	T	A	11: 82,872,370 (GRCm39)	M789L	probably benign	Het
Srf	A	G	17: 46,861,825 (GRCm39)		probably null	Het
Tank	A	G	2: 61,457,287 (GRCm39)	E81G	probably damaging	Het
Tia1	T	A	6: 86,402,685 (GRCm39)	M241K	probably benign	Het
Tiam1	G	T	16: 89,681,709 (GRCm39)	S423*	probably null	Het
Tubg1	T	G	11: 101,015,264 (GRCm39)	S237A	probably benign	Het
Ubash3b	G	A	9: 40,942,785 (GRCm39)	P358S	probably benign	Het
Vmn2r3	T	C	3: 64,166,896 (GRCm39)	E745G	possibly damaging	Het
Vmn2r4	T	A	3: 64,314,391 (GRCm39)	I197F	probably benign	Het
Vps37d	C	A	5: 135,105,386 (GRCm39)	R79L	probably damaging	Het
Wdr7	T	A	18: 63,910,768 (GRCm39)	L720Q	probably damaging	Het
Xkr5	T	C	8: 18,984,048 (GRCm39)	N498S	probably benign	Het
Zc2hc1c	A	T	12: 85,337,084 (GRCm39)	E247V	probably benign	Het

Other mutations in Or4c122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Or4c122	APN	2	89,079,566 (GRCm39)	missense	probably benign	0.00
IGL02588:Or4c122	APN	2	89,080,042 (GRCm39)	splice site	probably benign
R0384:Or4c122	UTSW	2	89,079,414 (GRCm39)	missense	possibly damaging	0.82
R0600:Or4c122	UTSW	2	89,079,742 (GRCm39)	nonsense	probably null
R0613:Or4c122	UTSW	2	89,079,469 (GRCm39)	missense	probably damaging	1.00
R1564:Or4c122	UTSW	2	89,080,016 (GRCm39)	missense	probably benign	0.00
R2115:Or4c122	UTSW	2	89,079,874 (GRCm39)	missense	probably damaging	1.00
R2313:Or4c122	UTSW	2	89,079,285 (GRCm39)	missense	probably damaging	1.00
R3083:Or4c122	UTSW	2	89,079,345 (GRCm39)	missense	probably damaging	0.96
R3790:Or4c122	UTSW	2	89,079,337 (GRCm39)	missense	probably benign	0.02
R3948:Or4c122	UTSW	2	89,079,336 (GRCm39)	missense	possibly damaging	0.95
R4373:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4376:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4825:Or4c122	UTSW	2	89,079,034 (GRCm39)	splice site	probably null
R5022:Or4c122	UTSW	2	89,079,761 (GRCm39)	missense	probably benign	0.00
R5141:Or4c122	UTSW	2	89,079,473 (GRCm39)	nonsense	probably null
R5313:Or4c122	UTSW	2	89,079,721 (GRCm39)	missense	probably benign	0.05
R6010:Or4c122	UTSW	2	89,079,087 (GRCm39)	missense	probably benign	0.00
R7354:Or4c122	UTSW	2	89,079,031 (GRCm39)	splice site	probably null
R7548:Or4c122	UTSW	2	89,079,430 (GRCm39)	missense	probably benign	0.09
R8014:Or4c122	UTSW	2	89,079,343 (GRCm39)	missense	probably damaging	0.98
R8098:Or4c122	UTSW	2	89,079,652 (GRCm39)	missense	possibly damaging	0.95
R8280:Or4c122	UTSW	2	89,079,234 (GRCm39)	missense	probably damaging	0.98
R8554:Or4c122	UTSW	2	89,079,595 (GRCm39)	missense	possibly damaging	0.48
R8725:Or4c122	UTSW	2	89,079,658 (GRCm39)	missense	probably benign	0.00
R9039:Or4c122	UTSW	2	89,079,545 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTATGATGGTGGCAAATACAAAGGC -3'
(R):5'- CAGGAGACTCTGTGGCATTTTG -3'

Sequencing Primer
(F):5'- TGGGATCCACATGTGGA -3'
(R):5'- GGACAGGAGGATTCTTACATTCTCTC -3'

Posted On

2021-03-08