Incidental Mutation 'R5447:Rptor'
| ID |
429146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rptor
|
| Ensembl Gene |
ENSMUSG00000025583 |
| Gene Name |
regulatory associated protein of MTOR, complex 1 |
| Synonyms |
Rap, raptor, 4932417H02Rik |
| MMRRC Submission |
043012-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119493731-119790402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119734539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 514
(G514D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026671]
[ENSMUST00000124401]
[ENSMUST00000139728]
[ENSMUST00000147781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026671
AA Change: G514D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026671
Gene: ENSMUSG00000025583
AA Change: G514D
| Domain | Start | End | E-Value | Type |
|---|
|
Raptor_N
|
54 |
207 |
2.3e-98 |
SMART |
|
Pfam:HEAT_2
|
559 |
668 |
7.9e-11 |
PFAM |
|
Pfam:HEAT
|
602 |
630 |
1.9e-6 |
PFAM |
|
low complexity region
|
755 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
945 |
N/A |
INTRINSIC |
|
WD40
|
1012 |
1050 |
2.56e1 |
SMART |
|
WD40
|
1052 |
1097 |
4.28e0 |
SMART |
|
WD40
|
1105 |
1151 |
1.83e2 |
SMART |
|
WD40
|
1154 |
1194 |
1.82e-2 |
SMART |
|
WD40
|
1200 |
1240 |
5.35e-1 |
SMART |
|
WD40
|
1246 |
1281 |
7.13e0 |
SMART |
|
WD40
|
1283 |
1329 |
2.67e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124401
AA Change: G36D
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125503
Gene: ENSMUSG00000025583
AA Change: G36D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
58 |
88 |
1.2e-5 |
PFAM |
|
Pfam:HEAT_2
|
101 |
170 |
3.9e-8 |
PFAM |
|
Pfam:HEAT
|
102 |
130 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127899
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147772
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147781
|
| SMART Domains |
Protein: ENSMUSP00000124366
Gene: ENSMUSG00000025583
| Domain | Start | End | E-Value | Type |
|---|
|
Raptor_N
|
54 |
207 |
2.3e-98 |
SMART |
|
| Meta Mutation Damage Score |
0.7267 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (71/73) |
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of mammalian target of rapamycin complex 1 (mTORC1), a component of the mTOR signaling pathway, which regulates cell growth in response to nutrient and energy levels. The encoded protein may regulate the assembly, localization, and substrate binding of the mTORC1 complex. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
| Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
| BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
| E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
| Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
| Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
| Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
| Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
| Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
| Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
| Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
possibly damaging |
Het |
|
| Other mutations in Rptor |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Rptor
|
APN |
11 |
119,690,271 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01319:Rptor
|
APN |
11 |
119,781,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01375:Rptor
|
APN |
11 |
119,787,262 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01899:Rptor
|
APN |
11 |
119,748,279 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01927:Rptor
|
APN |
11 |
119,548,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Rptor
|
APN |
11 |
119,737,741 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02620:Rptor
|
APN |
11 |
119,671,413 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02651:Rptor
|
APN |
11 |
119,783,438 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03182:Rptor
|
APN |
11 |
119,615,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Velocipede
|
UTSW |
11 |
119,786,803 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0103:Rptor
|
UTSW |
11 |
119,775,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0179:Rptor
|
UTSW |
11 |
119,763,193 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0217:Rptor
|
UTSW |
11 |
119,785,738 (GRCm39) |
splice site |
probably benign |
|
|
R0219:Rptor
|
UTSW |
11 |
119,712,603 (GRCm39) |
intron |
probably benign |
|
|
R0324:Rptor
|
UTSW |
11 |
119,783,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Rptor
|
UTSW |
11 |
119,671,379 (GRCm39) |
nonsense |
probably null |
|
|
R0718:Rptor
|
UTSW |
11 |
119,763,202 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0730:Rptor
|
UTSW |
11 |
119,775,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1019:Rptor
|
UTSW |
11 |
119,734,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Rptor
|
UTSW |
11 |
119,634,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1424:Rptor
|
UTSW |
11 |
119,671,419 (GRCm39) |
nonsense |
probably null |
|
|
R1579:Rptor
|
UTSW |
11 |
119,786,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1766:Rptor
|
UTSW |
11 |
119,615,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1844:Rptor
|
UTSW |
11 |
119,647,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Rptor
|
UTSW |
11 |
119,615,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Rptor
|
UTSW |
11 |
119,647,148 (GRCm39) |
nonsense |
probably null |
|
|
R2275:Rptor
|
UTSW |
11 |
119,647,148 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Rptor
|
UTSW |
11 |
119,748,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2981:Rptor
|
UTSW |
11 |
119,756,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2996:Rptor
|
UTSW |
11 |
119,747,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3002:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3003:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4358:Rptor
|
UTSW |
11 |
119,562,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4592:Rptor
|
UTSW |
11 |
119,689,666 (GRCm39) |
missense |
probably null |
1.00 |
|
R4647:Rptor
|
UTSW |
11 |
119,781,989 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4666:Rptor
|
UTSW |
11 |
119,634,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Rptor
|
UTSW |
11 |
119,748,217 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4974:Rptor
|
UTSW |
11 |
119,712,466 (GRCm39) |
intron |
probably benign |
|
|
R5073:Rptor
|
UTSW |
11 |
119,787,305 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5199:Rptor
|
UTSW |
11 |
119,494,642 (GRCm39) |
missense |
probably benign |
|
|
R5216:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5219:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5277:Rptor
|
UTSW |
11 |
119,713,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5365:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5366:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5630:Rptor
|
UTSW |
11 |
119,647,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6220:Rptor
|
UTSW |
11 |
119,788,268 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6567:Rptor
|
UTSW |
11 |
119,786,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6741:Rptor
|
UTSW |
11 |
119,786,803 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6915:Rptor
|
UTSW |
11 |
119,647,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7032:Rptor
|
UTSW |
11 |
119,737,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7051:Rptor
|
UTSW |
11 |
119,765,012 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7396:Rptor
|
UTSW |
11 |
119,763,181 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7429:Rptor
|
UTSW |
11 |
119,737,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Rptor
|
UTSW |
11 |
119,737,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Rptor
|
UTSW |
11 |
119,775,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7595:Rptor
|
UTSW |
11 |
119,634,779 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7776:Rptor
|
UTSW |
11 |
119,783,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7854:Rptor
|
UTSW |
11 |
119,748,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8288:Rptor
|
UTSW |
11 |
119,748,763 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8305:Rptor
|
UTSW |
11 |
119,702,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Rptor
|
UTSW |
11 |
119,783,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Rptor
|
UTSW |
11 |
119,783,465 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8772:Rptor
|
UTSW |
11 |
119,615,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Rptor
|
UTSW |
11 |
119,494,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8925:Rptor
|
UTSW |
11 |
119,782,036 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8927:Rptor
|
UTSW |
11 |
119,782,036 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8981:Rptor
|
UTSW |
11 |
119,734,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9149:Rptor
|
UTSW |
11 |
119,777,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9213:Rptor
|
UTSW |
11 |
119,494,765 (GRCm39) |
missense |
probably benign |
|
|
R9224:Rptor
|
UTSW |
11 |
119,785,113 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9290:Rptor
|
UTSW |
11 |
119,702,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Rptor
|
UTSW |
11 |
119,786,772 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9371:Rptor
|
UTSW |
11 |
119,562,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9719:Rptor
|
UTSW |
11 |
119,781,940 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9751:Rptor
|
UTSW |
11 |
119,777,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0050:Rptor
|
UTSW |
11 |
119,737,231 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0066:Rptor
|
UTSW |
11 |
119,748,692 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z0001:Rptor
|
UTSW |
11 |
119,762,318 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,748,279 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,742,294 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,737,578 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,690,145 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,647,241 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,647,062 (GRCm39) |
splice site |
probably null |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,494,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,787,375 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z0001:Rptor
|
UTSW |
11 |
119,764,977 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTTCCCAAGTGAAATCTG -3'
(R):5'- GGAAGACCAGATTCTCACCCAG -3'
Sequencing Primer
(F):5'- CAAGTGAAATCTGGCCTTGC -3'
(R):5'- ATTCTCACCCAGGGCAGGAAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation