Mutagenetix > Incidental Mutation

Incidental Mutation 'R8444:Or5p79'

654386

Institutional Source

Beutler Lab

Gene Symbol

Or5p79

Ensembl Gene

ENSMUSG00000061000

Gene Name

olfactory receptor family 5 subfamily P member 79

Synonyms

Olfr507, GA_x6K02T2PBJ9-10951546-10952496, MOR204-7

MMRRC Submission

067826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108221021-108221971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108221027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 3 (I3V)

Ref Sequence

ENSEMBL: ENSMUSP00000078926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080014]

AlphaFold

Q8VG13

Predicted Effect

probably benign
Transcript: ENSMUST00000080014
AA Change: I3V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078926
Gene: ENSMUSG00000061000
AA Change: I3V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	313	6.1e-52	PFAM
Pfam:7tm_1	44	295	1e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,127,755 (GRCm39)	R56S	possibly damaging	Het
Abca14	T	A	7: 119,918,133 (GRCm39)	I1545K	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,058,839 (GRCm39)	V535A	probably benign	Het
Adcy9	T	C	16: 4,106,487 (GRCm39)	T1113A	probably damaging	Het
Afdn	A	T	17: 14,104,062 (GRCm39)	N1133Y	probably benign	Het
Aip	T	A	19: 4,166,034 (GRCm39)	D139V	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	G	A	7: 44,799,115 (GRCm39)	P56S	probably benign	Het
Alpk3	A	C	7: 80,707,468 (GRCm39)	T31P	probably benign	Het
Aoc3	G	T	11: 101,232,573 (GRCm39)	R466S	unknown	Het
Atoh1	T	C	6: 64,706,641 (GRCm39)	L112P	probably benign	Het
Atp2b2	T	A	6: 113,770,772 (GRCm39)	N424I	probably benign	Het
Brms1	T	C	19: 5,091,520 (GRCm39)		probably null	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd34	T	A	1: 194,640,808 (GRCm39)	S224R	probably benign	Het
Cdh20	T	A	1: 104,898,583 (GRCm39)	F437I	probably benign	Het
Cdkal1	A	T	13: 29,510,087 (GRCm39)	V557E	probably benign	Het
Cfap276	A	G	3: 108,451,384 (GRCm39)	H115R	probably benign	Het
Chst5	T	C	8: 112,617,395 (GRCm39)	H75R	probably damaging	Het
Col5a2	A	T	1: 45,435,305 (GRCm39)	N713K	probably benign	Het
Cpne5	A	T	17: 29,407,357 (GRCm39)	M181K	probably benign	Het
Cpt1a	T	C	19: 3,431,981 (GRCm39)	F731S	probably benign	Het
Cyfip1	A	G	7: 55,521,902 (GRCm39)	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,442,672 (GRCm39)	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,181,259 (GRCm39)	H805L	probably benign	Het
Dnm1l	C	T	16: 16,158,906 (GRCm39)	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,222,636 (GRCm39)	D612V	probably benign	Het
Ephb2	C	T	4: 136,388,711 (GRCm39)	G628R	probably damaging	Het
Esrrb	G	A	12: 86,552,595 (GRCm39)	R195H	probably benign	Het
Flg2	A	T	3: 93,107,585 (GRCm39)	E23D	probably damaging	Het
Gja8	A	G	3: 96,826,990 (GRCm39)	L224P	probably damaging	Het
Hps6	T	G	19: 45,993,867 (GRCm39)	S601R	possibly damaging	Het
Ice1	T	C	13: 70,752,495 (GRCm39)	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,200,857 (GRCm39)	A366D	possibly damaging	Het
Ighm	A	C	12: 113,384,813 (GRCm39)	S347A		Het
Immt	C	T	6: 71,848,492 (GRCm39)	R494*	probably null	Het
Irs2	A	G	8: 11,056,683 (GRCm39)	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,903,508 (GRCm39)	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245 (GRCm39)	I716F	probably benign	Het
Klhl1	T	A	14: 96,755,326 (GRCm39)	D143V	probably benign	Het
Lrp1b	T	C	2: 40,760,272 (GRCm39)	T2999A		Het
Map3k9	A	G	12: 81,768,970 (GRCm39)	L1026P	probably damaging	Het
Mtg1	T	C	7: 139,718,283 (GRCm39)	V54A	probably damaging	Het
Mx1	G	T	16: 97,252,687 (GRCm39)	C231*	probably null	Het
Odad4	G	T	11: 100,452,731 (GRCm39)		probably null	Het
Or10ag59	G	A	2: 87,406,083 (GRCm39)	M218I	probably benign	Het
Or56a41	A	G	7: 104,740,165 (GRCm39)	V227A	probably damaging	Het
Or5p6	C	A	7: 107,631,070 (GRCm39)	W160L	probably benign	Het
Or6c65	T	A	10: 129,603,794 (GRCm39)	V143E	probably damaging	Het
Otogl	T	A	10: 107,692,975 (GRCm39)	E836D	probably benign	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,177,327 (GRCm39)	W194*	probably null	Het
Rbm25	T	A	12: 83,711,025 (GRCm39)	S379R	unknown	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Shoc2	A	G	19: 53,976,503 (GRCm39)	Y131C	probably damaging	Het
Slc23a1	T	A	18: 35,757,489 (GRCm39)	M261L	possibly damaging	Het
Slc34a1	A	T	13: 24,003,061 (GRCm39)	H237L	probably benign	Het
Slc35d1	G	C	4: 103,071,896 (GRCm39)	I35M		Het
Slc8b1	C	T	5: 120,651,203 (GRCm39)		probably benign	Het
Smr3a	A	C	5: 88,152,611 (GRCm39)	L8F	unknown	Het
Snx8	G	A	5: 140,343,929 (GRCm39)	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,752,509 (GRCm39)	V325A	possibly damaging	Het
Stk40	A	G	4: 126,012,127 (GRCm39)	T10A	probably benign	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Trim6	G	A	7: 103,881,879 (GRCm39)	V403M	probably damaging	Het
Tysnd1	A	G	10: 61,531,950 (GRCm39)	R201G	probably benign	Het
Vmn2r67	A	T	7: 84,785,854 (GRCm39)	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,387,383 (GRCm39)	V727A	probably benign	Het
Wdr49	A	C	3: 75,358,997 (GRCm39)	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,326,424 (GRCm39)	V247A	probably benign	Het
Zfp532	C	A	18: 65,757,330 (GRCm39)	A421E	possibly damaging	Het

Other mutations in Or5p79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Or5p79	APN	7	108,221,064 (GRCm39)	missense	probably damaging	1.00
IGL01979:Or5p79	APN	7	108,221,648 (GRCm39)	missense	probably benign	0.09
IGL02373:Or5p79	APN	7	108,221,310 (GRCm39)	missense	probably benign	0.11
IGL02754:Or5p79	APN	7	108,221,880 (GRCm39)	missense	possibly damaging	0.94
IGL03008:Or5p79	APN	7	108,221,490 (GRCm39)	missense	probably damaging	0.99
R0305:Or5p79	UTSW	7	108,221,792 (GRCm39)	missense	probably benign	0.01
R0584:Or5p79	UTSW	7	108,221,622 (GRCm39)	missense	probably benign	0.00
R0611:Or5p79	UTSW	7	108,221,494 (GRCm39)	missense	possibly damaging	0.72
R0947:Or5p79	UTSW	7	108,221,879 (GRCm39)	missense	probably benign	0.02
R1488:Or5p79	UTSW	7	108,221,696 (GRCm39)	missense	probably damaging	1.00
R1808:Or5p79	UTSW	7	108,221,817 (GRCm39)	missense	possibly damaging	0.87
R3763:Or5p79	UTSW	7	108,221,924 (GRCm39)	missense	probably damaging	1.00
R4367:Or5p79	UTSW	7	108,221,096 (GRCm39)	missense	probably benign	0.27
R4369:Or5p79	UTSW	7	108,221,096 (GRCm39)	missense	probably benign	0.27
R4371:Or5p79	UTSW	7	108,221,096 (GRCm39)	missense	probably benign	0.27
R4609:Or5p79	UTSW	7	108,221,711 (GRCm39)	missense	probably benign	0.35
R5389:Or5p79	UTSW	7	108,221,924 (GRCm39)	missense	probably damaging	1.00
R6499:Or5p79	UTSW	7	108,221,713 (GRCm39)	missense	probably benign	0.02
R6684:Or5p79	UTSW	7	108,221,141 (GRCm39)	missense	probably damaging	0.98
R7531:Or5p79	UTSW	7	108,221,269 (GRCm39)	missense	probably benign	0.06
R7555:Or5p79	UTSW	7	108,221,933 (GRCm39)	missense	probably damaging	1.00
R7893:Or5p79	UTSW	7	108,221,844 (GRCm39)	missense	probably damaging	1.00
R8415:Or5p79	UTSW	7	108,221,163 (GRCm39)	missense	probably damaging	1.00
R8904:Or5p79	UTSW	7	108,221,919 (GRCm39)	missense	probably damaging	0.98
R9635:Or5p79	UTSW	7	108,221,654 (GRCm39)	missense	probably benign	0.00
R9795:Or5p79	UTSW	7	108,221,869 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TGGTTTTGCACATGAATACACAGTG -3'
(R):5'- AATGCCTATGTCAACAGAAGCC -3'

Sequencing Primer
(F):5'- CACAGTGAGTGTTTGATGTACTACCC -3'
(R):5'- CCTATGTCAACAGAAGCCAAGTGG -3'

Posted On

2020-10-20