Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Or4a67'

266329

Institutional Source

Beutler Lab

Gene Symbol

Or4a67

Ensembl Gene

ENSMUSG00000075115

Gene Name

olfactory receptor family 4 subfamily A member 67

Synonyms

MOR225-12, GA_x6K02T2Q125-50243231-50242221, Olfr1200

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88597647-88598657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88598413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

Ref Sequence

ENSEMBL: ENSMUSP00000149757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099811] [ENSMUST00000217588]

AlphaFold

A2ATJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099811
AA Change: D82G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097399
Gene: ENSMUSG00000075115
AA Change: D82G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	3.2e-47	PFAM
Pfam:7tm_1	39	285	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217588
AA Change: D82G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7826

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,508,511 (GRCm39)	A1008V	probably damaging	Het
Adora3	A	G	3: 105,812,231 (GRCm39)	K39R	probably benign	Het
Ankib1	A	G	5: 3,742,760 (GRCm39)	V1085A	probably damaging	Het
Atp7a	G	A	X: 105,138,463 (GRCm39)	R563K	probably benign	Het
Azin1	T	C	15: 38,493,820 (GRCm39)	I268V	probably benign	Het
Carm1	T	C	9: 21,480,769 (GRCm39)	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,470,688 (GRCm39)	Y152C	probably damaging	Het
Chrna3	T	A	9: 54,931,610 (GRCm39)	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,514,522 (GRCm39)		probably benign	Het
Clstn2	T	A	9: 97,336,768 (GRCm39)	D903V	probably benign	Het
Dpysl3	C	T	18: 43,494,126 (GRCm39)	V70I	probably benign	Het
Drg2	A	T	11: 60,352,218 (GRCm39)	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236 (GRCm39)	H3659Q	probably benign	Het
Dysf	A	T	6: 84,047,870 (GRCm39)	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865 (GRCm39)	N533D	probably benign	Het
Fam47e	T	A	5: 92,733,221 (GRCm39)	V152D	probably damaging	Het
Fasn	G	A	11: 120,713,599 (GRCm39)	A24V	probably damaging	Het
Fhl4	T	C	10: 84,934,308 (GRCm39)	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,339,955 (GRCm39)	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,355,883 (GRCm39)	M358K	probably benign	Het
Ift74	A	G	4: 94,510,089 (GRCm39)		probably null	Het
Lhx4	A	G	1: 155,578,147 (GRCm39)	Y332H	probably damaging	Het
Mast2	A	T	4: 116,165,292 (GRCm39)	S1314T	probably benign	Het
Mast4	A	G	13: 102,923,887 (GRCm39)	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,940 (GRCm39)	K44E	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116 (GRCm39)		probably null	Het
Notch3	A	T	17: 32,377,592 (GRCm39)	D161E	possibly damaging	Het
Or2ag13	A	T	7: 106,472,976 (GRCm39)	Y159N	probably benign	Het
Or5w11	T	C	2: 87,459,418 (GRCm39)	F204L	probably benign	Het
P2rx4	T	A	5: 122,863,133 (GRCm39)	I202K	probably damaging	Het
Phykpl	A	G	11: 51,489,482 (GRCm39)	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,162,234 (GRCm39)	A1047T	probably damaging	Het
Ppat	A	G	5: 77,065,912 (GRCm39)	I402T	probably damaging	Het
Rpgr	A	G	X: 10,042,841 (GRCm39)	S656P	probably benign	Het
Rsbn1l	T	C	5: 21,110,928 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,449,752 (GRCm39)	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,505,847 (GRCm39)	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,274,432 (GRCm39)	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,618,870 (GRCm39)	T277N	possibly damaging	Het
Slc35a5	A	G	16: 44,964,396 (GRCm39)	I279T	probably benign	Het
Slc39a10	T	C	1: 46,874,877 (GRCm39)	T142A	probably benign	Het
Tle3	T	A	9: 61,321,376 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,573 (GRCm39)	I411T	probably damaging	Het
Ttn	T	C	2: 76,698,721 (GRCm39)	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,708,381 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,465,955 (GRCm39)	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,990,267 (GRCm39)	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,330,370 (GRCm39)		probably benign	Het

Other mutations in Or4a67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Or4a67	APN	2	88,597,810 (GRCm39)	missense	probably benign	0.01
PIT4520001:Or4a67	UTSW	2	88,597,921 (GRCm39)	missense	possibly damaging	0.95
R0375:Or4a67	UTSW	2	88,597,985 (GRCm39)	missense	possibly damaging	0.77
R0525:Or4a67	UTSW	2	88,597,658 (GRCm39)	nonsense	probably null
R1467:Or4a67	UTSW	2	88,597,832 (GRCm39)	missense	probably benign	0.02
R1467:Or4a67	UTSW	2	88,597,832 (GRCm39)	missense	probably benign	0.02
R1613:Or4a67	UTSW	2	88,598,149 (GRCm39)	missense	probably damaging	1.00
R2224:Or4a67	UTSW	2	88,597,930 (GRCm39)	missense	possibly damaging	0.89
R2760:Or4a67	UTSW	2	88,597,980 (GRCm39)	missense	possibly damaging	0.61
R6156:Or4a67	UTSW	2	88,597,934 (GRCm39)	missense	probably benign	0.01
R6251:Or4a67	UTSW	2	88,598,632 (GRCm39)	missense	probably damaging	1.00
R6582:Or4a67	UTSW	2	88,598,587 (GRCm39)	missense	probably damaging	0.96
R6592:Or4a67	UTSW	2	88,598,471 (GRCm39)	missense	probably damaging	1.00
R6600:Or4a67	UTSW	2	88,598,101 (GRCm39)	missense	probably benign	0.02
R6774:Or4a67	UTSW	2	88,598,228 (GRCm39)	missense	probably benign	0.00
R7140:Or4a67	UTSW	2	88,598,308 (GRCm39)	missense	probably damaging	1.00
R8335:Or4a67	UTSW	2	88,598,117 (GRCm39)	missense	probably damaging	1.00
R8972:Or4a67	UTSW	2	88,598,630 (GRCm39)	missense	possibly damaging	0.56
R9047:Or4a67	UTSW	2	88,598,299 (GRCm39)	missense	probably damaging	1.00
R9380:Or4a67	UTSW	2	88,598,530 (GRCm39)	missense	probably damaging	1.00
R9506:Or4a67	UTSW	2	88,597,840 (GRCm39)	missense	probably damaging	1.00
X0026:Or4a67	UTSW	2	88,597,777 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGCAGACTGAGCACCATC -3'
(R):5'- ATGGGTCTTTGGGAGAATAGAC -3'

Sequencing Primer
(F):5'- GTATCCAGGCCGTGACAATC -3'
(R):5'- GACAAATAGAGTTGCTGTTCTTTTTC -3'

Posted On

2015-02-18