Mutagenetix > Incidental Mutation

Incidental Mutation 'R6251:Or4a67'

506207

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

044368-MU

Accession Numbers

Essential gene?

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

Stock #

R6251 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88597647-88598657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88598632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 9 (E9G)

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: E9G

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

SMART Domains

Protein: ENSMUSP00000097399
Gene: ENSMUSG00000075115
AA Change: E9G

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: E9G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

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
3100002H09Rik	A	G	4: 124,504,445 (GRCm39)	S36P	probably damaging	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Arhgap26	A	T	18: 39,490,880 (GRCm39)	S328C	probably null	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Asb3	G	A	11: 31,005,559 (GRCm39)	A192T	probably damaging	Het
Atp10b	A	T	11: 43,126,573 (GRCm39)	M1110L	possibly damaging	Het
Cacna1i	T	C	15: 80,220,883 (GRCm39)	I175T	probably damaging	Het
Car15	A	T	16: 17,655,227 (GRCm39)	I71N	probably benign	Het
Casq1	T	A	1: 172,044,407 (GRCm39)	Y140F	probably benign	Het
Ccdc93	C	T	1: 121,362,269 (GRCm39)	T17M	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,323 (GRCm39)		probably benign	Het
Cul5	A	T	9: 53,558,094 (GRCm39)	V170D	probably benign	Het
Cyb5r3	T	C	15: 83,038,917 (GRCm39)	D224G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Daglb	T	A	5: 143,475,689 (GRCm39)	L383Q	probably damaging	Het
Dazap2	T	G	15: 100,514,864 (GRCm39)	H28Q	possibly damaging	Het
Dnttip2	A	T	3: 122,068,905 (GRCm39)	D40V	probably benign	Het
Dynlt2b	T	A	16: 32,245,727 (GRCm39)	D125E	possibly damaging	Het
Epn1	G	T	7: 5,098,925 (GRCm39)	D406Y	probably damaging	Het
Epn1	G	T	7: 5,098,935 (GRCm39)	R409L	probably damaging	Het
Evc	T	C	5: 37,457,843 (GRCm39)	T966A	probably benign	Het
Extl3	T	C	14: 65,314,375 (GRCm39)	D269G	probably damaging	Het
Gfra3	TGCGC	TGC	18: 34,828,864 (GRCm39)		probably null	Het
Gpr87	A	T	3: 59,086,528 (GRCm39)	F326I	probably damaging	Het
Hivep3	C	A	4: 119,952,137 (GRCm39)	P151H	probably damaging	Het
Kcnj14	T	A	7: 45,467,440 (GRCm39)	E302V	probably damaging	Het
Kdm5d	T	C	Y: 921,693 (GRCm39)	Y534H	probably damaging	Homo
Map3k5	T	A	10: 20,014,006 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,748,590 (GRCm39)	T4212A	probably benign	Het
Ms4a6d	A	T	19: 11,564,504 (GRCm39)	S122R	probably damaging	Het
Mtarc1	G	A	1: 184,527,648 (GRCm39)	R271W	probably damaging	Het
Nectin3	A	T	16: 46,215,513 (GRCm39)	H76Q	probably damaging	Het
Notch1	C	A	2: 26,364,182 (GRCm39)	E846D	possibly damaging	Het
Or1e23	A	G	11: 73,407,534 (GRCm39)	S164P	probably benign	Het
Or8b36	GTTT	GTTTGCTTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TT	TTGCTGTGT	9: 37,937,844 (GRCm39)		probably null	Het
Or8b36	G	GGGATTGC	9: 37,937,833 (GRCm39)		probably null	Het
Or8b36	TGTTT	TGTTTGCAGTTT	9: 37,937,841 (GRCm39)		probably null	Het
Or8g18	T	A	9: 39,149,514 (GRCm39)	I72F	possibly damaging	Het
Pfkl	C	T	10: 77,825,399 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,424 (GRCm39)	V494A	possibly damaging	Het
Pik3r4	T	C	9: 105,531,247 (GRCm39)	V516A	probably benign	Het
Polr2b	G	A	5: 77,496,141 (GRCm39)	R1104K	probably benign	Het
Rap1a	A	T	3: 105,639,311 (GRCm39)	L116*	probably null	Het
Rnf114	T	C	2: 167,356,649 (GRCm39)	*230R	probably null	Het
Rtl1	G	T	12: 109,560,083 (GRCm39)	N585K	probably benign	Het
Serpinb5	G	T	1: 106,802,795 (GRCm39)	R110I	possibly damaging	Het
Spink6	T	C	18: 44,207,498 (GRCm39)		probably null	Het
Spopfm1	G	T	3: 94,173,208 (GRCm39)	S72I	probably damaging	Het
Stk39	A	T	2: 68,137,383 (GRCm39)		probably null	Het
Tcstv2a	T	C	13: 120,724,907 (GRCm39)		probably benign	Het
Tcte1	A	T	17: 45,846,085 (GRCm39)	T230S	probably benign	Het
Tecpr1	C	A	5: 144,135,394 (GRCm39)	V1020L	probably damaging	Het
Tmc7	T	C	7: 118,160,261 (GRCm39)	Y192C	possibly damaging	Het
Trim63	A	T	4: 134,050,537 (GRCm39)	T274S	probably benign	Het
Wdr43	G	A	17: 71,957,048 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	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
R3434:Or4a67	UTSW	2	88,598,413 (GRCm39)	missense	probably damaging	1.00
R6156:Or4a67	UTSW	2	88,597,934 (GRCm39)	missense	probably benign	0.01
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'- GTCCCTGATGAGCCTAGGAATC -3'
(R):5'- TGCTGCTATAACTGCTCTGC -3'

Sequencing Primer
(F):5'- CCTGATGAGCCTAGGAATCACAGTG -3'
(R):5'- ATTCTCAAAATCCTCTACCTCTTTTC -3'

Posted On

2018-03-15