Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Or4a79'

616235

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

046039-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89551509-89552453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89552344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000150304 (fasta)

Gene Model

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

AlphaFold

Q7TQZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000186710
AA Change: I37T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I37T

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: ENSMUST00000213196
AA Change: I37T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000216203
AA Change: I37T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	probably benign	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
R5418:Or4a79	UTSW	2	89,552,343 (GRCm39)	missense	probably benign
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
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'- CTGAAAACTTCTGGGGTTGAATTG -3'

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

Posted On

2020-01-23