Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Or5af2'

478055

Institutional Source

Beutler Lab

Gene Symbol

Or5af2

Ensembl Gene

ENSMUSG00000070438

Gene Name

olfactory receptor family 5 subfamily AC member 20

Synonyms

MOR222-2, GA_x6K02T2NKPP-590035-589109, Olfr313

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

LCD18 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

58707754-58708827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58708266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 144 (V144D)

Ref Sequence

ENSEMBL: ENSMUSP00000150529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082220] [ENSMUST00000217506]

AlphaFold

Q5NC55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082220
AA Change: V144D

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080852
Gene: ENSMUSG00000070438
AA Change: V144D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	217	4.5e-9	PFAM
Pfam:7tm_1	39	288	5.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217506
AA Change: V144D

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1768

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dennd1b	G	A	1: 139,042,502 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 82,419,639 (GRCm39)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Ofcc1	G	A	13: 40,246,443 (GRCm39)		probably benign	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		probably benign	Het

Other mutations in Or5af2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Or5af2	UTSW	11	58,708,266 (GRCm39)	missense	possibly damaging	0.80
FR4976:Or5af2	UTSW	11	58,708,266 (GRCm39)	missense	possibly damaging	0.80
R0269:Or5af2	UTSW	11	58,707,975 (GRCm39)	missense	probably damaging	1.00
R0617:Or5af2	UTSW	11	58,707,975 (GRCm39)	missense	probably damaging	1.00
R0707:Or5af2	UTSW	11	58,708,577 (GRCm39)	missense	probably damaging	1.00
R2917:Or5af2	UTSW	11	58,708,314 (GRCm39)	missense	probably damaging	1.00
R3085:Or5af2	UTSW	11	58,708,553 (GRCm39)	missense	probably damaging	1.00
R4245:Or5af2	UTSW	11	58,708,604 (GRCm39)	missense	probably damaging	1.00
R4991:Or5af2	UTSW	11	58,708,544 (GRCm39)	missense	probably damaging	1.00
R5188:Or5af2	UTSW	11	58,708,146 (GRCm39)	missense	probably damaging	0.96
R6985:Or5af2	UTSW	11	58,707,939 (GRCm39)	missense	probably damaging	0.98
R7076:Or5af2	UTSW	11	58,707,990 (GRCm39)	missense	probably benign	0.17
R7253:Or5af2	UTSW	11	58,708,366 (GRCm39)	nonsense	probably null
R7553:Or5af2	UTSW	11	58,707,886 (GRCm39)	missense	probably benign	0.10
R8204:Or5af2	UTSW	11	58,707,885 (GRCm39)	missense	probably benign	0.05
R9110:Or5af2	UTSW	11	58,707,959 (GRCm39)	missense	possibly damaging	0.93
R9211:Or5af2	UTSW	11	58,708,709 (GRCm39)	missense	probably damaging	1.00
R9600:Or5af2	UTSW	11	58,708,370 (GRCm39)	missense	possibly damaging	0.49
Z1186:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAAGGCAGTGGTGATATCC -3'
(R):5'- GCAAAGGAGCTCATGACAATGC -3'

Sequencing Primer
(F):5'- AAGGCAGTGGTGATATCCCTCAC -3'
(R):5'- GGAGCTCATGACAATGCAACTACTG -3'

Posted On

2017-05-17