Incidental Mutation 'R4119:Aplnr'
| ID |
315210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplnr
|
| Ensembl Gene |
ENSMUSG00000044338 |
| Gene Name |
apelin receptor |
| Synonyms |
apelin receptor, Agtrl1, msr/apj, APJ |
| MMRRC Submission |
040992-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84966704-84970267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84967310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 112
(Y112H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057019]
[ENSMUST00000184728]
|
| AlphaFold |
Q9WV08 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057019
AA Change: Y112H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: Y112H
| 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 |
|
| Meta Mutation Damage Score |
0.4574 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (46/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,333,863 (GRCm39) |
L39P |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,211,877 (GRCm39) |
M138V |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,739 (GRCm39) |
I1067N |
probably damaging |
Het |
| Adam6a |
C |
T |
12: 113,508,194 (GRCm39) |
T189I |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
A |
G |
7: 122,906,217 (GRCm39) |
F313S |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,046,069 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
G |
C |
2: 170,220,735 (GRCm39) |
P394A |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,960,051 (GRCm39) |
S213P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,385,242 (GRCm39) |
I2346T |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,785,658 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
C |
6: 47,521,482 (GRCm39) |
N390K |
probably benign |
Het |
| Fbxo7 |
C |
A |
10: 85,857,759 (GRCm39) |
|
probably benign |
Het |
| Fibin |
A |
G |
2: 110,193,035 (GRCm39) |
Y36H |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,688,425 (GRCm39) |
R224H |
possibly damaging |
Het |
| Hars2 |
A |
T |
18: 36,923,541 (GRCm39) |
N363I |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,371,316 (GRCm39) |
D1140N |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,374,511 (GRCm39) |
V190A |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,633,868 (GRCm39) |
T660N |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,490,519 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,787 (GRCm39) |
Y62H |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,262 (GRCm39) |
T138A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,720,574 (GRCm39) |
D308G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,973,049 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,794,153 (GRCm39) |
T942A |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,817,054 (GRCm39) |
V326D |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,910,799 (GRCm39) |
D282V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,720,324 (GRCm39) |
F1287L |
probably damaging |
Het |
| Tshz1 |
T |
G |
18: 84,032,314 (GRCm39) |
K698T |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,773,979 (GRCm39) |
D1503E |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,965,805 (GRCm39) |
N549K |
probably benign |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp24 |
A |
G |
18: 24,147,626 (GRCm39) |
Y229H |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,189 (GRCm39) |
Y421* |
probably null |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
possibly 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 |
|
|
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'- TCTGGACCGTGTTTCGAACC -3'
(R):5'- CATGTAGCACTGGATCTTGGTGC -3'
Sequencing Primer
(F):5'- TGTTTCGAACCAGCCGC -3'
(R):5'- TGCCATTTTCCGAGGCG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation