Incidental Mutation 'R6276:Ager'
| ID |
507678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ager
|
| Ensembl Gene |
ENSMUSG00000015452 |
| Gene Name |
advanced glycosylation end product-specific receptor |
| Synonyms |
RAGE |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34816836-34819910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34817728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015596]
[ENSMUST00000015622]
[ENSMUST00000038149]
[ENSMUST00000174069]
[ENSMUST00000174496]
[ENSMUST00000173992]
[ENSMUST00000174532]
[ENSMUST00000183827]
[ENSMUST00000173328]
|
| AlphaFold |
Q62151 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015596
AA Change: V126A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
4.3e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015622
|
| SMART Domains |
Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
RING
|
27 |
67 |
1.5e-8 |
SMART |
|
transmembrane domain
|
118 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
160 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038149
|
| SMART Domains |
Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
49 |
N/A |
INTRINSIC |
|
Pfam:PBC
|
50 |
243 |
1.3e-97 |
PFAM |
|
HOX
|
244 |
309 |
1.9e-18 |
SMART |
|
low complexity region
|
327 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172932
|
| SMART Domains |
Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173229
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174069
AA Change: V126A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
2.5e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174496
AA Change: V126A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
117 |
2.44e-7 |
SMART |
|
Pfam:C2-set_2
|
123 |
217 |
3.4e-24 |
PFAM |
|
IGc2
|
248 |
306 |
7.63e-18 |
SMART |
|
transmembrane domain
|
330 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173992
AA Change: V117A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: V117A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
108 |
3.23e-7 |
SMART |
|
Pfam:C2-set_2
|
114 |
208 |
3.3e-24 |
PFAM |
|
IGc2
|
239 |
297 |
7.63e-18 |
SMART |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174532
|
| SMART Domains |
Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
148 |
3.5e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183827
|
| SMART Domains |
Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
183 |
9.5e-98 |
PFAM |
|
HOX
|
184 |
249 |
1.9e-18 |
SMART |
|
low complexity region
|
267 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173328
|
| SMART Domains |
Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
161 |
5e-84 |
PFAM |
|
HOX
|
162 |
227 |
1.9e-18 |
SMART |
|
low complexity region
|
245 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173589
|
| SMART Domains |
Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184846
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
PHENOTYPE: Homozygotes for a null allele show increased bone mass and strength, reduced osteoclast number, abnormal blood vessel healing, and altered development of nephropathy and pain perception in induced diabetes. Homozygotes for another null allele show restored diabetes-induced angiogenic responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,874 (GRCm39) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,437,423 (GRCm39) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,925,229 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
T |
C |
15: 76,621,736 (GRCm39) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,862,068 (GRCm39) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm39) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,406 (GRCm39) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,778,567 (GRCm39) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,506,338 (GRCm39) |
I701S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,056 (GRCm39) |
K145E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,345,903 (GRCm39) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,718,647 (GRCm39) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,478,921 (GRCm39) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,858 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,214,636 (GRCm39) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,579,458 (GRCm39) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,378,022 (GRCm39) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,650,446 (GRCm39) |
Y145* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,810,785 (GRCm39) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,989,612 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,941,802 (GRCm39) |
Y627* |
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,314,245 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,314,952 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,982,602 (GRCm39) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,720,347 (GRCm39) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,614,432 (GRCm39) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,707,826 (GRCm39) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 115,117,388 (GRCm39) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,429,421 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,979 (GRCm39) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,312,728 (GRCm39) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 68,091,083 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,587 (GRCm39) |
|
probably null |
Het |
| Lypd9 |
T |
A |
11: 58,337,192 (GRCm39) |
I94L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,438,578 (GRCm39) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,549 (GRCm39) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,508 (GRCm39) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,373,723 (GRCm39) |
T495I |
probably benign |
Het |
| Or1e31 |
A |
T |
11: 73,690,229 (GRCm39) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,966,457 (GRCm39) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,666 (GRCm39) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 37,102,820 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,554,813 (GRCm39) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,697 (GRCm39) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 177,920,812 (GRCm39) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,153,684 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,076 (GRCm39) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,886 (GRCm39) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,503 (GRCm39) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,078 (GRCm39) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,448,766 (GRCm39) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,606,687 (GRCm39) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,067,217 (GRCm39) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,441 (GRCm39) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,313 (GRCm39) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,267,309 (GRCm39) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 20,994,104 (GRCm39) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,465 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,493,730 (GRCm39) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,318 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,732 (GRCm39) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,831,482 (GRCm39) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,345,604 (GRCm39) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,525,557 (GRCm39) |
N426S |
probably benign |
Het |
|
| Other mutations in Ager |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01808:Ager
|
APN |
17 |
34,818,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02143:Ager
|
APN |
17 |
34,818,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Ager
|
APN |
17 |
34,819,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1337:Ager
|
UTSW |
17 |
34,819,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1584:Ager
|
UTSW |
17 |
34,819,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Ager
|
UTSW |
17 |
34,818,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Ager
|
UTSW |
17 |
34,817,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5881:Ager
|
UTSW |
17 |
34,819,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5939:Ager
|
UTSW |
17 |
34,817,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Ager
|
UTSW |
17 |
34,818,442 (GRCm39) |
splice site |
probably null |
|
|
R7009:Ager
|
UTSW |
17 |
34,819,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8212:Ager
|
UTSW |
17 |
34,819,586 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8843:Ager
|
UTSW |
17 |
34,819,716 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9025:Ager
|
UTSW |
17 |
34,819,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Ager
|
UTSW |
17 |
34,819,579 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9237:Ager
|
UTSW |
17 |
34,816,869 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R9357:Ager
|
UTSW |
17 |
34,817,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9665:Ager
|
UTSW |
17 |
34,819,090 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGGCTAAGTCACTTTGC -3'
(R):5'- CCATCGGGAATCAGAAGTTTCC -3'
Sequencing Primer
(F):5'- CAGGCTAAGTCACTTTGCATTTATC -3'
(R):5'- GAAGTTTCCCATCTAAGTGCCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation