Incidental Mutation 'R6564:Adam15'
| ID |
522310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam15
|
| Ensembl Gene |
ENSMUSG00000028041 |
| Gene Name |
ADAM metallopeptidase domain 15 |
| Synonyms |
metargidin, MDC15 |
| MMRRC Submission |
044688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R6564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89246947-89257589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89254519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 121
(R121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029676]
[ENSMUST00000070820]
[ENSMUST00000074582]
[ENSMUST00000107446]
[ENSMUST00000107448]
[ENSMUST00000184651]
|
| AlphaFold |
O88839 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029676
AA Change: R121L
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: R121L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
29 |
158 |
1.2e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
208 |
360 |
1e-12 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.5e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
416 |
1.6e-54 |
PFAM |
|
Pfam:Reprolysin_2
|
257 |
405 |
9.9e-12 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
862 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070820
|
| SMART Domains |
Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
108 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
398 |
420 |
N/A |
INTRINSIC |
|
Pfam:DC_STAMP
|
431 |
621 |
1.5e-55 |
PFAM |
|
Blast:RING
|
672 |
710 |
3e-17 |
BLAST |
|
SCOP:d1ldjb_
|
672 |
710 |
2e-3 |
SMART |
|
low complexity region
|
717 |
728 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074582
AA Change: R121L
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: R121L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.6e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.6e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
2.9e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.2e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.7e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
254 |
405 |
1.1e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107446
AA Change: R121L
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
AA Change: R121L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
9.9e-22 |
PFAM |
|
Pfam:Reprolysin_3
|
209 |
360 |
5.9e-15 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
5e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
213 |
410 |
1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
1.4e-56 |
PFAM |
|
Pfam:Reprolysin_2
|
253 |
405 |
4e-11 |
PFAM |
|
low complexity region
|
416 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107448
AA Change: R121L
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: R121L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.7e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.6e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.4e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.8e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
254 |
405 |
1.2e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184651
AA Change: R121L
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: R121L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.9e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.7e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.6e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.9e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
255 |
405 |
1.2e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
862 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180791
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is prominently expressed in vascular cells, the endocardium, hypertrophic cells in developing bone, and specific areas of hippocampus and cerebellum. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein have increased bone mass resulting from osteoblast proliferation, and exhibit reduced neovascularization in a mouse model for retinopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice develop normally and exhibit normal angiogenesis, but show a resistance to pathological neovascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,622,613 (GRCm39) |
|
probably null |
Het |
| 4931429L15Rik |
C |
A |
9: 46,218,202 (GRCm39) |
D179Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,034,031 (GRCm39) |
L2233Q |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,349,009 (GRCm39) |
E834V |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,548,834 (GRCm39) |
Y1318C |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,116,351 (GRCm39) |
M1588K |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,078,491 (GRCm39) |
S1849P |
probably damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,954,509 (GRCm39) |
V549A |
probably benign |
Het |
| Bag6 |
T |
C |
17: 35,359,347 (GRCm39) |
S213P |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,102,098 (GRCm39) |
V65A |
probably benign |
Het |
| Chn1 |
T |
A |
2: 73,448,385 (GRCm39) |
I203F |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,770,165 (GRCm39) |
E226V |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,797,442 (GRCm39) |
E1302G |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,367,891 (GRCm39) |
A2759S |
probably benign |
Het |
| Dtx1 |
T |
A |
5: 120,833,082 (GRCm39) |
T119S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ezr |
C |
T |
17: 7,010,246 (GRCm39) |
V268M |
probably damaging |
Het |
| Fbxl15 |
T |
C |
19: 46,317,777 (GRCm39) |
V153A |
probably damaging |
Het |
| Fkbpl |
C |
A |
17: 34,865,240 (GRCm39) |
A336E |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,330 (GRCm39) |
T200A |
possibly damaging |
Het |
| H2ax |
T |
C |
9: 44,246,209 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,422,862 (GRCm39) |
M1R |
probably null |
Het |
| Kcnt1 |
A |
C |
2: 25,801,063 (GRCm39) |
D1045A |
probably benign |
Het |
| Kdm4a |
C |
A |
4: 118,034,636 (GRCm39) |
A32S |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,726,671 (GRCm39) |
V444E |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,030,825 (GRCm39) |
T414A |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 151,990,959 (GRCm39) |
N367K |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,185 (GRCm39) |
D49G |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,398 (GRCm39) |
L284P |
probably damaging |
Het |
| Or7g33 |
G |
A |
9: 19,448,506 (GRCm39) |
T240I |
possibly damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,285 (GRCm39) |
S15P |
probably benign |
Het |
| Pbld1 |
T |
A |
10: 62,907,806 (GRCm39) |
I224N |
possibly damaging |
Het |
| Pih1d1 |
A |
T |
7: 44,809,243 (GRCm39) |
R276W |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,914,153 (GRCm39) |
V1292L |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,171,285 (GRCm39) |
|
probably null |
Het |
| Rbm6 |
T |
C |
9: 107,710,697 (GRCm39) |
Y498C |
probably damaging |
Het |
| Reps1 |
T |
A |
10: 17,998,140 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,208 (GRCm39) |
I154N |
possibly damaging |
Het |
| Slc4a5 |
T |
G |
6: 83,257,042 (GRCm39) |
F616V |
possibly damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,401 (GRCm39) |
T798S |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,355 (GRCm39) |
I102K |
possibly damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,131,270 (GRCm39) |
I21K |
probably damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,052 (GRCm39) |
I842L |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,002 (GRCm39) |
K360N |
probably benign |
Het |
| Tmem45b |
C |
G |
9: 31,339,301 (GRCm39) |
W138S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,291,344 (GRCm39) |
E40G |
probably damaging |
Het |
| Traj40 |
T |
C |
14: 54,415,399 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
A |
G |
7: 142,626,507 (GRCm39) |
S125P |
probably damaging |
Het |
| Ttc3 |
G |
T |
16: 94,243,470 (GRCm39) |
C1158F |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,011,715 (GRCm39) |
I74T |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,169,197 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
G |
T |
14: 79,704,868 (GRCm39) |
H201N |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,485,499 (GRCm39) |
S821P |
probably benign |
Het |
| Wsb2 |
A |
T |
5: 117,508,625 (GRCm39) |
|
probably null |
Het |
| Zic5 |
A |
G |
14: 122,696,833 (GRCm39) |
L594P |
unknown |
Het |
|
| Other mutations in Adam15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01929:Adam15
|
APN |
3 |
89,251,445 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01994:Adam15
|
APN |
3 |
89,248,812 (GRCm39) |
splice site |
probably benign |
|
|
IGL02184:Adam15
|
APN |
3 |
89,253,241 (GRCm39) |
splice site |
probably benign |
|
|
IGL02501:Adam15
|
APN |
3 |
89,247,769 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02821:Adam15
|
APN |
3 |
89,252,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02933:Adam15
|
APN |
3 |
89,250,790 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03078:Adam15
|
APN |
3 |
89,253,244 (GRCm39) |
splice site |
probably benign |
|
|
IGL03185:Adam15
|
APN |
3 |
89,255,212 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4280001:Adam15
|
UTSW |
3 |
89,251,285 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4581001:Adam15
|
UTSW |
3 |
89,251,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0559:Adam15
|
UTSW |
3 |
89,251,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Adam15
|
UTSW |
3 |
89,257,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1670:Adam15
|
UTSW |
3 |
89,255,817 (GRCm39) |
splice site |
probably benign |
|
|
R1909:Adam15
|
UTSW |
3 |
89,252,637 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3110:Adam15
|
UTSW |
3 |
89,254,764 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3112:Adam15
|
UTSW |
3 |
89,254,764 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3897:Adam15
|
UTSW |
3 |
89,254,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4058:Adam15
|
UTSW |
3 |
89,254,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4573:Adam15
|
UTSW |
3 |
89,253,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Adam15
|
UTSW |
3 |
89,257,206 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5364:Adam15
|
UTSW |
3 |
89,252,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Adam15
|
UTSW |
3 |
89,249,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Adam15
|
UTSW |
3 |
89,253,135 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5964:Adam15
|
UTSW |
3 |
89,250,874 (GRCm39) |
nonsense |
probably null |
|
|
R6218:Adam15
|
UTSW |
3 |
89,251,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6579:Adam15
|
UTSW |
3 |
89,252,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Adam15
|
UTSW |
3 |
89,247,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7131:Adam15
|
UTSW |
3 |
89,254,287 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7204:Adam15
|
UTSW |
3 |
89,254,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7578:Adam15
|
UTSW |
3 |
89,251,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Adam15
|
UTSW |
3 |
89,253,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8016:Adam15
|
UTSW |
3 |
89,252,668 (GRCm39) |
missense |
probably benign |
|
|
R8098:Adam15
|
UTSW |
3 |
89,251,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Adam15
|
UTSW |
3 |
89,254,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8230:Adam15
|
UTSW |
3 |
89,252,917 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9149:Adam15
|
UTSW |
3 |
89,254,742 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9307:Adam15
|
UTSW |
3 |
89,254,790 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9308:Adam15
|
UTSW |
3 |
89,254,790 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9321:Adam15
|
UTSW |
3 |
89,254,794 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9612:Adam15
|
UTSW |
3 |
89,249,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Adam15
|
UTSW |
3 |
89,253,270 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCAGTGTATAGCCTCTC -3'
(R):5'- GAGGGCTACAGTCTAGTGAGTC -3'
Sequencing Primer
(F):5'- GTATAGCCTCTCTCTGGGGAC -3'
(R):5'- TACAGTCTAGTGAGTCAGGCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation