Mutagenetix > Incidental Mutation

Incidental Mutation 'R6898:Aplnr'

538437

Institutional Source

Beutler Lab

Gene Symbol

Aplnr

Ensembl Gene

ENSMUSG00000044338

Gene Name

apelin receptor

Synonyms

apelin receptor, Agtrl1, msr/apj, APJ

MMRRC Submission

044992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84966704-84970267 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 84970155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053638 (fasta)

Gene Model

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

AlphaFold

Q9WV08

Predicted Effect

probably benign
Transcript: ENSMUST00000057019

SMART Domains

Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338

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

unknown
Transcript: ENSMUST00000184728
AA Change: D68V

SMART Domains

Protein: ENSMUSP00000139142
Gene: ENSMUSG00000044338
AA Change: D68V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	G	T	6: 18,868,100 (GRCm39)		probably null	Het
Aoc1l2	A	T	6: 48,907,975 (GRCm39)	Y325F	probably damaging	Het
Capns2	T	C	8: 93,628,605 (GRCm39)	S165P	probably damaging	Het
Col25a1	T	C	3: 130,378,377 (GRCm39)		probably null	Het
Crocc2	T	C	1: 93,143,304 (GRCm39)	V1302A	probably benign	Het
Cul9	C	A	17: 46,821,952 (GRCm39)	R1841M	possibly damaging	Het
Dnhd1	T	C	7: 105,336,584 (GRCm39)	L1213P	probably damaging	Het
Dscam	A	T	16: 96,631,100 (GRCm39)	I305K	probably benign	Het
Dsp	A	G	13: 38,376,193 (GRCm39)	E1326G	possibly damaging	Het
Eif4a3l1	T	A	6: 136,305,617 (GRCm39)	V26E	probably benign	Het
Emc9	A	G	14: 55,822,367 (GRCm39)		probably null	Het
Eppk1	A	C	15: 75,996,126 (GRCm39)	S252A	probably benign	Het
Fn1	T	A	1: 71,639,572 (GRCm39)	T1830S	probably damaging	Het
Fryl	A	T	5: 73,179,485 (GRCm39)	M2974K	probably damaging	Het
Gdpd3	C	A	7: 126,370,201 (GRCm39)	S250*	probably null	Het
Gnl3	A	T	14: 30,735,136 (GRCm39)	S485R	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hsd17b3	T	C	13: 64,207,339 (GRCm39)	Y234C	probably benign	Het
Lima1	T	C	15: 99,679,148 (GRCm39)	H271R	possibly damaging	Het
Nfu1	G	A	6: 86,994,034 (GRCm39)		probably null	Het
Noto	A	G	6: 85,404,942 (GRCm39)	E97G	probably damaging	Het
Ntng1	T	C	3: 109,779,534 (GRCm39)	K348E	probably damaging	Het
Or2y13	G	A	11: 49,414,536 (GRCm39)		probably benign	Het
Or4a70	C	T	2: 89,324,594 (GRCm39)	G21R	possibly damaging	Het
Osmr	C	A	15: 6,845,364 (GRCm39)	V801F	probably damaging	Het
Papln	A	G	12: 83,824,234 (GRCm39)	E554G	probably benign	Het
Pitrm1	T	C	13: 6,605,495 (GRCm39)	L175P	probably damaging	Het
Pramel22	A	T	4: 143,382,053 (GRCm39)	N214K	probably damaging	Het
Pramel7	T	C	2: 87,320,070 (GRCm39)	T408A	probably damaging	Het
Serinc2	A	T	4: 130,149,235 (GRCm39)	D322E	probably benign	Het
Setx	T	C	2: 29,038,120 (GRCm39)	V1535A	probably benign	Het
Sgce	A	T	6: 4,689,666 (GRCm39)	V389E	probably damaging	Het
Snx11	G	A	11: 96,659,888 (GRCm39)	T267I	probably benign	Het
Spata6l	T	G	19: 28,921,688 (GRCm39)	Q146P	probably benign	Het
Specc1	G	A	11: 62,009,162 (GRCm39)	S306N	probably benign	Het
Spocd1	A	G	4: 129,850,305 (GRCm39)		probably benign	Het
St7	T	A	6: 17,854,945 (GRCm39)	V294D	probably damaging	Het
Stab1	C	T	14: 30,880,920 (GRCm39)	R624Q	probably benign	Het
Tcf21	T	C	10: 22,695,403 (GRCm39)	I134V	probably benign	Het
Tgfb2	T	A	1: 186,364,697 (GRCm39)	I266F	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,365 (GRCm39)	I209M	possibly damaging	Het
Tmcc3	A	G	10: 94,387,034 (GRCm39)		probably null	Het
Toe1	A	G	4: 116,664,671 (GRCm39)	S16P	probably damaging	Het
Vps16	T	C	2: 130,279,601 (GRCm39)	V38A	possibly damaging	Het
Wnk2	G	T	13: 49,224,557 (GRCm39)	D1001E	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
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
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'- TTGATGCGGTTGGACCATC -3'
(R):5'- AACTGCGGGTTCTTACACTTC -3'

Sequencing Primer
(F):5'- AGAGATCCTGCTCCTGGAGTAG -3'
(R):5'- CCACAGTGAGTAACAAGATC -3'

Posted On

2018-11-06