Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Or4a79'

427830

Institutional Source

Beutler Lab

Gene Symbol

Or4a79

Ensembl Gene

ENSMUSG00000110819

Gene Name

olfactory receptor family 4 subfamily A member 79

Synonyms

GA_x6K02T2Q125-51162884-51161940, Olfr1252, MOR231-22_p

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R5418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89551509-89552453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89552343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 37 (I37M)

Ref Sequence

ENSEMBL: ENSMUSP00000150304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000187990] [ENSMUST00000213196] [ENSMUST00000216203]

AlphaFold

Q7TQZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000186710
AA Change: I37M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I37M

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	5.1e-28	PFAM
Pfam:7tm_4	137	278	1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187990
AA Change: I37M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: I37M

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2.7e-28	PFAM
Pfam:7tm_4	137	278	3.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213196
AA Change: I37M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216203
AA Change: I37M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,244,738 (GRCm39)	S205P	probably damaging	Het
Abcc1	T	C	16: 14,278,996 (GRCm39)	V1102A	probably benign	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Acoxl	T	A	2: 127,719,722 (GRCm39)	M161K	probably benign	Het
Adamts4	T	A	1: 171,080,143 (GRCm39)	V35E	probably damaging	Het
Add2	A	G	6: 86,087,894 (GRCm39)	S614G	probably benign	Het
Adgrv1	T	A	13: 81,567,427 (GRCm39)	I5249L	probably benign	Het
Agps	A	G	2: 75,689,248 (GRCm39)	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,732,584 (GRCm39)		noncoding transcript	Het
Ankrd24	T	A	10: 81,480,776 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,733 (GRCm39)	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,547,027 (GRCm39)	Y232C	probably damaging	Het
Bptf	A	G	11: 107,002,120 (GRCm39)	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,064,904 (GRCm39)	V209M	probably benign	Het
Cflar	A	T	1: 58,791,810 (GRCm39)	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931 (GRCm39)		probably benign	Het
Crlf2	A	G	5: 109,704,899 (GRCm39)	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,281,935 (GRCm39)		probably null	Het
Dnah17	C	A	11: 117,985,810 (GRCm39)	E1422D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Efcab11	A	G	12: 99,821,877 (GRCm39)	L80S	possibly damaging	Het
Emc8	G	A	8: 121,385,342 (GRCm39)	T130M	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Erc2	A	G	14: 27,688,467 (GRCm39)	M196V	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fam120b	C	T	17: 15,622,061 (GRCm39)	T13M	probably damaging	Het
Fam234b	A	G	6: 135,203,966 (GRCm39)	K423E	probably benign	Het
Fcgbp	G	A	7: 27,784,738 (GRCm39)	G266D	probably damaging	Het
Fndc4	A	T	5: 31,451,978 (GRCm39)	S146R	probably benign	Het
Frmd3	G	A	4: 74,079,935 (GRCm39)		probably null	Het
Glrx2	C	A	1: 143,615,446 (GRCm39)	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,238,358 (GRCm39)		noncoding transcript	Het
Hc	C	T	2: 34,898,195 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,787,313 (GRCm39)	C1695R	probably damaging	Het
Hic1	A	G	11: 75,057,425 (GRCm39)		probably null	Het
Igkv4-92	A	T	6: 68,732,564 (GRCm39)	V5E	possibly damaging	Het
Irs1	G	A	1: 82,266,491 (GRCm39)	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,283 (GRCm39)	Y143*	probably null	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klra6	T	A	6: 129,990,393 (GRCm39)	L239F	probably damaging	Het
Lhx6	A	G	2: 35,977,378 (GRCm39)		probably null	Het
Lrrc34	G	A	3: 30,696,923 (GRCm39)	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,790,591 (GRCm39)	K321*	probably null	Het
Mapk14	T	C	17: 28,960,817 (GRCm39)	V196A	possibly damaging	Het
Matcap2	G	T	9: 22,343,066 (GRCm39)	R187L	probably damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Mylk	T	C	16: 34,732,600 (GRCm39)	S627P	probably benign	Het
Nbea	A	T	3: 55,553,410 (GRCm39)	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,524,035 (GRCm39)	V153A	probably damaging	Het
Pax6	A	T	2: 105,521,910 (GRCm39)	D175V	probably benign	Het
Piezo1	A	G	8: 123,213,519 (GRCm39)	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,140,506 (GRCm39)	V404A	probably benign	Het
Plxnb2	A	G	15: 89,050,694 (GRCm39)	Y421H	probably benign	Het
Prkdc	T	G	16: 15,612,961 (GRCm39)	V3173G	probably benign	Het
Prss40	A	T	1: 34,599,840 (GRCm39)	I49N	probably benign	Het
Prx	T	A	7: 27,216,699 (GRCm39)	V400E	probably damaging	Het
Rbm11	A	C	16: 75,393,423 (GRCm39)	T40P	probably damaging	Het
Resf1	T	C	6: 149,227,634 (GRCm39)	Y227H	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,569,820 (GRCm39)	Y70H	probably damaging	Het
Senp6	G	A	9: 80,029,151 (GRCm39)	E505K	possibly damaging	Het
Slc25a3	T	C	10: 90,955,398 (GRCm39)	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280 (GRCm38)	S572T	probably benign	Het
Smarcal1	C	T	1: 72,638,068 (GRCm39)	P501S	probably benign	Het
Sox7	C	T	14: 64,185,396 (GRCm39)	T144M	probably benign	Het
Taar1	T	C	10: 23,797,214 (GRCm39)	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,263,517 (GRCm39)	F46L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tpcn2	C	T	7: 144,832,518 (GRCm39)	E113K	probably damaging	Het
Vmn1r232	T	A	17: 21,134,378 (GRCm39)	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,914,415 (GRCm39)	T660I	probably damaging	Het
Zdhhc3	A	G	9: 122,909,456 (GRCm39)	M234T	probably damaging	Het
Zfp960	T	A	17: 17,307,805 (GRCm39)	L173H	probably damaging	Het

Other mutations in Or4a79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Or4a79	APN	2	89,551,870 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Or4a79	UTSW	2	89,552,237 (GRCm39)	missense	probably benign	0.42
R1838:Or4a79	UTSW	2	89,552,053 (GRCm39)	missense	probably damaging	0.99
R1866:Or4a79	UTSW	2	89,551,550 (GRCm39)	missense	probably benign	0.00
R3835:Or4a79	UTSW	2	89,551,799 (GRCm39)	missense	possibly damaging	0.75
R4577:Or4a79	UTSW	2	89,552,387 (GRCm39)	missense	possibly damaging	0.80
R4675:Or4a79	UTSW	2	89,551,838 (GRCm39)	missense	probably benign
R4799:Or4a79	UTSW	2	89,551,706 (GRCm39)	missense	probably benign	0.24
R4845:Or4a79	UTSW	2	89,552,120 (GRCm39)	missense	probably benign	0.05
R5076:Or4a79	UTSW	2	89,551,745 (GRCm39)	missense	probably damaging	1.00
R5160:Or4a79	UTSW	2	89,551,763 (GRCm39)	missense	probably damaging	0.99
R5384:Or4a79	UTSW	2	89,551,649 (GRCm39)	missense	possibly damaging	0.94
R5763:Or4a79	UTSW	2	89,552,372 (GRCm39)	missense	probably benign	0.00
R6997:Or4a79	UTSW	2	89,552,269 (GRCm39)	missense	possibly damaging	0.71
R7013:Or4a79	UTSW	2	89,551,730 (GRCm39)	missense	probably benign	0.20
R7500:Or4a79	UTSW	2	89,552,281 (GRCm39)	missense	possibly damaging	0.90
R7608:Or4a79	UTSW	2	89,551,642 (GRCm39)	missense	probably benign	0.42
R7671:Or4a79	UTSW	2	89,551,603 (GRCm39)	missense	probably damaging	1.00
R7781:Or4a79	UTSW	2	89,551,879 (GRCm39)	missense	probably benign	0.38
R7841:Or4a79	UTSW	2	89,552,309 (GRCm39)	missense	probably benign	0.06
R7999:Or4a79	UTSW	2	89,552,344 (GRCm39)	missense	probably benign	0.06
R8147:Or4a79	UTSW	2	89,552,186 (GRCm39)	missense	probably damaging	1.00
R8882:Or4a79	UTSW	2	89,551,740 (GRCm39)	nonsense	probably null
X0064:Or4a79	UTSW	2	89,551,700 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTGAAGGAGATGGTCTTC -3'
(R):5'- AACTTCTGGGGTTGAATTGAAGATG -3'

Sequencing Primer
(F):5'- GGAGATGGTCTTCTTATCACAAAG -3'
(R):5'- AGTCTAGGTTTTGGTCACAATTAAGG -3'

Posted On

2016-09-01