Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Aplnr'

40452

Institutional Source

Beutler Lab

Gene Symbol

Aplnr

Ensembl Gene

ENSMUSG00000044338

Gene Name

apelin receptor

Synonyms

apelin receptor, Agtrl1, msr/apj, APJ

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84966704-84970267 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 84967620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057019] [ENSMUST00000184728]

AlphaFold

Q9WV08

Predicted Effect

probably damaging
Transcript: ENSMUST00000057019
AA Change: M215K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: M215K

Domain	Start	End	E-Value	Type
Pfam:TAS2R	25	326	1.1e-8	PFAM
Pfam:7tm_1	43	307	4e-61	PFAM
Pfam:7TM_GPCR_Srv	46	324	3.5e-8	PFAM
low complexity region	335	349	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000184728

SMART Domains

Protein: ENSMUSP00000139142
Gene: ENSMUSG00000044338

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	1	47	7e-3	SMART

Meta Mutation Damage Score

0.9036

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early lethality, decreased cardiac contractility, and decreased exercise endurance. Mice for another knock-out allele develop pulmonary venoocclusive disease with heart right ventricle hypertrophy and elevated pulmonary pressures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,380,103 (GRCm39)	V14E	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,746,636 (GRCm39)	P151S	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm39)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	Het

Other mutations in Aplnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Aplnr	APN	2	84,967,985 (GRCm39)	missense	probably benign	0.00
IGL00985:Aplnr	APN	2	84,968,007 (GRCm39)	missense	probably benign	0.02
PIT4810001:Aplnr	UTSW	2	84,967,628 (GRCm39)	missense	probably damaging	1.00
R0009:Aplnr	UTSW	2	84,967,620 (GRCm39)	splice site	probably null
R0201:Aplnr	UTSW	2	84,967,521 (GRCm39)	missense	probably damaging	1.00
R1268:Aplnr	UTSW	2	84,967,775 (GRCm39)	missense	possibly damaging	0.80
R1386:Aplnr	UTSW	2	84,967,805 (GRCm39)	missense	possibly damaging	0.71
R1445:Aplnr	UTSW	2	84,967,353 (GRCm39)	missense	probably damaging	1.00
R1663:Aplnr	UTSW	2	84,967,038 (GRCm39)	missense	possibly damaging	0.53
R1967:Aplnr	UTSW	2	84,967,950 (GRCm39)	missense	probably benign
R4119:Aplnr	UTSW	2	84,967,310 (GRCm39)	missense	possibly damaging	0.96
R4672:Aplnr	UTSW	2	84,967,524 (GRCm39)	missense	probably damaging	1.00
R4916:Aplnr	UTSW	2	84,967,261 (GRCm39)	missense	probably damaging	1.00
R4968:Aplnr	UTSW	2	84,967,289 (GRCm39)	missense	probably damaging	1.00
R4990:Aplnr	UTSW	2	84,967,721 (GRCm39)	missense	probably damaging	0.96
R5067:Aplnr	UTSW	2	84,967,128 (GRCm39)	missense	probably damaging	1.00
R6235:Aplnr	UTSW	2	84,967,970 (GRCm39)	missense	probably benign
R6433:Aplnr	UTSW	2	84,967,017 (GRCm39)	missense	probably benign
R6828:Aplnr	UTSW	2	84,970,103 (GRCm39)	utr 3 prime	probably benign
R6898:Aplnr	UTSW	2	84,970,155 (GRCm39)	utr 3 prime	probably benign
R7547:Aplnr	UTSW	2	84,967,521 (GRCm39)	missense	probably damaging	1.00
R8539:Aplnr	UTSW	2	84,967,251 (GRCm39)	missense	probably benign	0.02
R8762:Aplnr	UTSW	2	84,967,515 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATGTACGCCAGTGTCTTTTGCC -3'
(R):5'- CAAACTGCCCAGCATGTAGAGAGTC -3'

Sequencing Primer
(F):5'- AGCTTTGACCGATACCTGG -3'
(R):5'- AGCATGTAGAGAGTCTTCACC -3'

Posted On

2013-05-23