Mutagenetix > Incidental Mutation

Incidental Mutation 'R8762:Aplnr'

671827

Institutional Source

Beutler Lab

Gene Symbol

Aplnr

Ensembl Gene

ENSMUSG00000044338

Gene Name

apelin receptor

Synonyms

apelin receptor, Agtrl1, msr/apj, APJ

MMRRC Submission

068622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84966704-84970267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84967515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 180 (Y180F)

Ref Sequence

ENSEMBL: ENSMUSP00000053638 (fasta)

Gene Model

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

AlphaFold

Q9WV08

Predicted Effect

probably benign
Transcript: ENSMUST00000057019
AA Change: Y180F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: Y180F

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 benign
Transcript: ENSMUST00000184728

SMART Domains

Protein: ENSMUSP00000139142
Gene: ENSMUSG00000044338

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	G	11: 101,301,226 (GRCm39)	V272A	probably benign	Het
Acbd6	G	A	1: 155,562,706 (GRCm39)	E236K	probably damaging	Het
Actr1b	T	C	1: 36,748,909 (GRCm39)	N9S	probably benign	Het
Adam17	A	T	12: 21,401,595 (GRCm39)	D133E	probably benign	Het
Adam6b	G	A	12: 113,453,227 (GRCm39)	V15M	probably damaging	Het
Adam9	T	A	8: 25,457,235 (GRCm39)	N631I	probably damaging	Het
Albfm1	A	G	5: 90,714,461 (GRCm39)	N157S	probably benign	Het
Amy2a1	A	T	3: 113,325,276 (GRCm39)		probably benign	Het
Arhgef7	T	C	8: 11,831,216 (GRCm39)	V105A	probably benign	Het
Bambi	G	A	18: 3,511,277 (GRCm39)	D33N	probably damaging	Het
Bicc1	G	A	10: 70,779,216 (GRCm39)	T724I	probably benign	Het
Brd2	T	A	17: 34,335,934 (GRCm39)	Q93L	probably damaging	Het
Cacnb2	A	G	2: 14,972,759 (GRCm39)	D222G	possibly damaging	Het
Cdh1	G	T	8: 107,386,336 (GRCm39)	D420Y	probably damaging	Het
Cep162	T	C	9: 87,109,314 (GRCm39)	S430G	probably benign	Het
Cfap161	T	A	7: 83,443,282 (GRCm39)	R27S	possibly damaging	Het
Chek1	C	T	9: 36,629,636 (GRCm39)	A237T	probably benign	Het
Chrna3	T	A	9: 54,922,995 (GRCm39)	K271M	probably damaging	Het
Coro7	A	C	16: 4,452,203 (GRCm39)	V410G	probably benign	Het
Crmp1	C	A	5: 37,441,440 (GRCm39)	N507K	probably damaging	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Disc1	A	G	8: 125,881,796 (GRCm39)	D577G	probably damaging	Het
Dnah6	A	G	6: 73,156,811 (GRCm39)	Y649H	possibly damaging	Het
Flywch1	A	G	17: 23,975,731 (GRCm39)	S504P	probably damaging	Het
Fpr1	A	T	17: 18,097,851 (GRCm39)	V46D	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,789 (GRCm39)	V234M	probably benign	Het
Ighv5-16	T	C	12: 113,802,288 (GRCm39)	N71D	probably benign	Het
Kash5	G	T	7: 44,845,481 (GRCm39)	D152E	probably damaging	Het
Kdm3b	A	G	18: 34,937,157 (GRCm39)	M480V	probably benign	Het
L3mbtl3	T	A	10: 26,152,121 (GRCm39)	D825V	probably damaging	Het
Lef1	T	A	3: 130,988,366 (GRCm39)	M311K	probably damaging	Het
Magi1	T	A	6: 93,792,789 (GRCm39)	R150*	probably null	Het
Magi3	C	T	3: 103,958,169 (GRCm39)	V639I	probably damaging	Het
Mocos	A	T	18: 24,812,554 (GRCm39)	R483W	probably damaging	Het
Mrps11	G	T	7: 78,438,487 (GRCm39)	V80F	possibly damaging	Het
Myh2	A	T	11: 67,084,578 (GRCm39)	R1706W	probably damaging	Het
Neurod6	T	A	6: 55,656,228 (GRCm39)	L136F	probably damaging	Het
Nfe2l1	A	T	11: 96,711,306 (GRCm39)	Y308N	probably damaging	Het
Nptn	T	A	9: 58,525,905 (GRCm39)		probably benign	Het
Or1e28-ps1	G	T	11: 73,615,307 (GRCm39)	T181N	unknown	Het
Or5g25	A	T	2: 85,478,034 (GRCm39)	S210R	probably damaging	Het
Oscar	A	G	7: 3,613,900 (GRCm39)	S227P	probably benign	Het
Phgdh	A	C	3: 98,247,024 (GRCm39)	I42R	possibly damaging	Het
Pla2g4a	C	T	1: 149,761,935 (GRCm39)	G174D	probably benign	Het
Plcd4	A	G	1: 74,591,213 (GRCm39)	T203A	possibly damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Plppr4	A	T	3: 117,119,482 (GRCm39)	V309D	probably damaging	Het
Pltp	T	C	2: 164,686,652 (GRCm39)	K324E	possibly damaging	Het
Pml	C	T	9: 58,154,348 (GRCm39)	R175H	probably damaging	Het
Psg20	C	A	7: 18,408,557 (GRCm39)	V388F	probably benign	Het
Qrfprl	T	C	6: 65,424,393 (GRCm39)	V182A	probably benign	Het
Rabgef1	A	G	5: 130,237,557 (GRCm39)	D209G	possibly damaging	Het
Rif1	A	T	2: 52,001,742 (GRCm39)	N90I		Het
Sec31a	T	C	5: 100,526,688 (GRCm39)	H57R		Het
Sidt1	T	C	16: 44,152,707 (GRCm39)	N62S	probably benign	Het
Slc18a2	T	A	19: 59,261,355 (GRCm39)	M172K	probably benign	Het
Slc34a3	T	C	2: 25,121,003 (GRCm39)	T362A	probably benign	Het
Smtn	T	G	11: 3,476,407 (GRCm39)	D158A	probably benign	Het
Spen	C	T	4: 141,200,261 (GRCm39)	V2789M	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tctn3	A	G	19: 40,595,636 (GRCm39)	V383A	unknown	Het
Themis3	A	T	17: 66,866,676 (GRCm39)	M188K	probably benign	Het
Trpv5	A	G	6: 41,652,313 (GRCm39)	V124A	probably benign	Het
Tshr	G	A	12: 91,504,324 (GRCm39)	V421M	probably damaging	Het
Ttn	T	A	2: 76,539,426 (GRCm39)	D34520V	probably benign	Het
Ttn	A	C	2: 76,608,294 (GRCm39)	Y17876*	probably null	Het
Zrsr2-ps1	T	C	11: 22,923,694 (GRCm39)	L156P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTGACCGATACCTGGCCATTG -3'
(R):5'- GGGCAAAGGTCACTACAAGC -3'

Sequencing Primer
(F):5'- CATTGTCAGGCCGGTGG -3'
(R):5'- GCACCACGATAATGCTGAGCAG -3'

Posted On

2021-04-30