Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Or2ak4'

355500

Institutional Source

Beutler Lab

Gene Symbol

Or2ak4

Ensembl Gene

ENSMUSG00000107677

Gene Name

olfactory receptor family 2 subfamily AK member 4

Synonyms

MOR285-6_p, MOR285-3P, GA_x6K02T2NKPP-648708-647788, Olfr316

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58643560-58650497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58649013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 174 (V174A)

Ref Sequence

ENSEMBL: ENSMUSP00000151136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189911] [ENSMUST00000203731] [ENSMUST00000215071]

AlphaFold

A0A0N4SVP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189911
AA Change: V174A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: V174A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	220	6.2e-7	PFAM
Pfam:7tm_1	41	290	7.3e-30	PFAM
Pfam:7tm_4	139	283	3.2e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203731
AA Change: V174A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145187
Gene: ENSMUSG00000107677
AA Change: V174A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	220	6.2e-7	PFAM
Pfam:7tm_1	41	290	3.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215071
AA Change: V174A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Or2ak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Or2ak4	APN	11	58,649,196 (GRCm39)	missense	possibly damaging	0.50
R5503:Or2ak4	UTSW	11	58,649,154 (GRCm39)	missense	probably damaging	1.00
R6818:Or2ak4	UTSW	11	58,648,783 (GRCm39)	nonsense	probably null
R7155:Or2ak4	UTSW	11	58,649,109 (GRCm39)	missense	probably damaging	0.98
R7657:Or2ak4	UTSW	11	58,648,755 (GRCm39)	missense	probably benign	0.00
R8507:Or2ak4	UTSW	11	58,648,985 (GRCm39)	nonsense	probably null
Z1186:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1186:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1186:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1186:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1186:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1186:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1187:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1187:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1187:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1187:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1187:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1187:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1188:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1188:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1188:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1188:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1188:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1188:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1189:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1189:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1189:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1189:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1189:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1189:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1190:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1190:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1190:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1190:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1190:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1190:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1191:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1191:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1191:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1191:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1191:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1191:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign
Z1192:Or2ak4	UTSW	11	58,648,895 (GRCm39)	missense	probably benign	0.16
Z1192:Or2ak4	UTSW	11	58,648,793 (GRCm39)	missense	probably benign
Z1192:Or2ak4	UTSW	11	58,649,186 (GRCm39)	missense	probably benign	0.06
Z1192:Or2ak4	UTSW	11	58,649,168 (GRCm39)	missense	probably benign
Z1192:Or2ak4	UTSW	11	58,649,153 (GRCm39)	missense	probably damaging	1.00
Z1192:Or2ak4	UTSW	11	58,648,931 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGGCTTCATGTCCTATGAC -3'
(R):5'- TAGAACAAGCTGGCCACAGTC -3'

Sequencing Primer
(F):5'- TGACAGGTATATAGCCATCTGCCG -3'
(R):5'- GTGGACACAGCTCTACTCTG -3'

Posted On

2015-10-21