Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Aplnr'

556830

Institutional Source

Beutler Lab

Gene Symbol

Aplnr

Ensembl Gene

ENSMUSG00000044338

Gene Name

apelin receptor

Synonyms

apelin receptor, Agtrl1, msr/apj, APJ

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4810001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84966704-84970267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84967628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 218 (C218S)

Ref Sequence

ENSEMBL: ENSMUSP00000053638 (fasta)

Gene Model

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

AlphaFold

Q9WV08

Predicted Effect

probably damaging
Transcript: ENSMUST00000057019
AA Change: C218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: C218S

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: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
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
R8762:Aplnr	UTSW	2	84,967,515 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCAGTCTTATGGGTGCTG -3'
(R):5'- TCAAAGTCACAGGGCCAGTG -3'

Sequencing Primer
(F):5'- GGCTGCCCTTCTAGCTGTG -3'
(R):5'- CAGGGCCAGTGCAGCAAAC -3'

Posted On

2019-06-07