Incidental Mutation 'R9237:Ager'
| ID |
700559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ager
|
| Ensembl Gene |
ENSMUSG00000015452 |
| Gene Name |
advanced glycosylation end product-specific receptor |
| Synonyms |
RAGE |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R9237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34816836-34819910 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 34816869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015596]
[ENSMUST00000015622]
[ENSMUST00000038149]
[ENSMUST00000173328]
[ENSMUST00000173992]
[ENSMUST00000174069]
[ENSMUST00000174496]
[ENSMUST00000174532]
[ENSMUST00000183827]
|
| AlphaFold |
Q62151 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015596
AA Change: M1K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: M1K
| 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 |
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 |
probably null
Transcript: ENSMUST00000173992
AA Change: M1K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000174069
AA Change: M1K
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000174496
AA Change: M1K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: M1K
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,318,557 (GRCm39) |
N1815K |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,494,816 (GRCm39) |
A359S |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,470 (GRCm39) |
N206D |
possibly damaging |
Het |
| Adgrf4 |
T |
A |
17: 42,980,782 (GRCm39) |
H101L |
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,307,231 (GRCm39) |
I1452T |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,123,522 (GRCm39) |
E392G |
probably benign |
Het |
| C8b |
A |
G |
4: 104,650,481 (GRCm39) |
T430A |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,873,025 (GRCm39) |
R455W |
probably damaging |
Het |
| Erbb4 |
T |
G |
1: 68,081,601 (GRCm39) |
Q1144H |
possibly damaging |
Het |
| Exoc2 |
G |
A |
13: 31,048,858 (GRCm39) |
H732Y |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,632,483 (GRCm39) |
M1219L |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,359,683 (GRCm39) |
K36E |
possibly damaging |
Het |
| Gpr156 |
C |
T |
16: 37,825,648 (GRCm39) |
Q622* |
probably null |
Het |
| Grip1 |
C |
T |
10: 119,911,310 (GRCm39) |
S1091L |
probably benign |
Het |
| H4c12 |
A |
G |
13: 21,934,534 (GRCm39) |
S48P |
probably damaging |
Het |
| Helt |
A |
G |
8: 46,745,536 (GRCm39) |
F154L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Ighg2b |
A |
T |
12: 113,270,217 (GRCm39) |
V267E |
|
Het |
| Map3k10 |
C |
T |
7: 27,357,842 (GRCm39) |
W645* |
probably null |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,810,444 (GRCm39) |
E657G |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,408,051 (GRCm39) |
T1195I |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,152,591 (GRCm39) |
V646A |
possibly damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,783,073 (GRCm39) |
M128K |
probably benign |
Het |
| Nr2f6 |
A |
C |
8: 71,831,073 (GRCm39) |
C112W |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,057 (GRCm39) |
I26F |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,267 (GRCm39) |
Y218* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,853,896 (GRCm39) |
N139S |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,260 (GRCm39) |
N450K |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,034 (GRCm39) |
I106T |
possibly damaging |
Het |
| Phyhipl |
C |
A |
10: 70,406,720 (GRCm39) |
R78L |
possibly damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,932 (GRCm39) |
D268G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rcbtb2 |
C |
A |
14: 73,411,936 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,096,803 (GRCm39) |
V271E |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,408,605 (GRCm39) |
V240E |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,146,073 (GRCm39) |
N742S |
probably benign |
Het |
| Tas2r118 |
T |
A |
6: 23,969,617 (GRCm39) |
Y148F |
probably benign |
Het |
| Trmt5 |
G |
T |
12: 73,331,568 (GRCm39) |
Q163K |
probably benign |
Het |
| Ube2d1 |
T |
A |
10: 71,097,925 (GRCm39) |
I37F |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,841,479 (GRCm39) |
P2503L |
probably damaging |
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 |
|
R6276:Ager
|
UTSW |
17 |
34,817,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- CGGGTGAGATTGCTTCTAGTAC -3'
(R):5'- AGCTCCTGGGTGATAGCATC -3'
Sequencing Primer
(F):5'- GAGATTGCTTCTAGTACCTGAAGGAC -3'
(R):5'- CTCCTGGGTGATAGCATCATTGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation