Incidental Mutation 'R9321:Adam15'
| ID |
706187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam15
|
| Ensembl Gene |
ENSMUSG00000028041 |
| Gene Name |
ADAM metallopeptidase domain 15 |
| Synonyms |
metargidin, MDC15 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R9321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89246947-89257589 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 89254794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029676]
[ENSMUST00000070820]
[ENSMUST00000074582]
[ENSMUST00000107446]
[ENSMUST00000107448]
[ENSMUST00000184651]
|
| AlphaFold |
O88839 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029676
|
| SMART Domains |
Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
| 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 |
probably benign
Transcript: ENSMUST00000074582
|
| SMART Domains |
Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
| 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 |
probably benign
Transcript: ENSMUST00000184651
|
| SMART Domains |
Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,460,475 (GRCm39) |
S4162G |
probably benign |
Het |
| Acvr2b |
T |
C |
9: 119,257,351 (GRCm39) |
I152T |
probably benign |
Het |
| Adam34 |
C |
T |
8: 44,105,243 (GRCm39) |
G134D |
probably damaging |
Het |
| Aifm2 |
C |
T |
10: 61,571,410 (GRCm39) |
Q315* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,791,235 (GRCm39) |
F408S |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,114,252 (GRCm39) |
|
probably null |
Het |
| Btbd2 |
A |
C |
10: 80,483,675 (GRCm39) |
V181G |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,425 (GRCm39) |
G1070V |
|
Het |
| Ceacam2 |
G |
T |
7: 25,230,089 (GRCm39) |
D172E |
possibly damaging |
Het |
| Crtc3 |
G |
A |
7: 80,259,650 (GRCm39) |
A203V |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,531,100 (GRCm39) |
S749P |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,338,939 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
G |
A |
2: 118,292,798 (GRCm39) |
V1341M |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,393,689 (GRCm39) |
V295A |
possibly damaging |
Het |
| Gm1110 |
T |
A |
9: 26,831,891 (GRCm39) |
M87L |
probably benign |
Het |
| Gm57858 |
A |
T |
3: 36,073,139 (GRCm39) |
V381E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,969 (GRCm39) |
L241P |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,320 (GRCm39) |
T145A |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,524,534 (GRCm39) |
S138P |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,000 (GRCm39) |
S41G |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,779,793 (GRCm39) |
D222N |
possibly damaging |
Het |
| Ldb3 |
C |
A |
14: 34,266,099 (GRCm39) |
G499* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,034,935 (GRCm39) |
F577S |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,991 (GRCm39) |
I177V |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,170,901 (GRCm39) |
T323K |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,113 (GRCm39) |
V301A |
probably benign |
Het |
| Mtx3 |
T |
A |
13: 92,984,097 (GRCm39) |
W125R |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,733,370 (GRCm39) |
G1404R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,172,464 (GRCm39) |
P1188S |
possibly damaging |
Het |
| Nars1 |
C |
T |
18: 64,637,950 (GRCm39) |
E335K |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,707,494 (GRCm39) |
V16E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nme5 |
T |
G |
18: 34,704,597 (GRCm39) |
I83L |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,438,378 (GRCm39) |
L13P |
unknown |
Het |
| Or11g27 |
G |
A |
14: 50,771,471 (GRCm39) |
V201I |
probably benign |
Het |
| Or13c25 |
G |
T |
4: 52,911,314 (GRCm39) |
T160N |
probably damaging |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,777,792 (GRCm39) |
V39D |
possibly damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,434 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,297 (GRCm39) |
I46F |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,518,370 (GRCm39) |
Y319H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,386,023 (GRCm39) |
T916A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,209,549 (GRCm39) |
N615S |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,434 (GRCm39) |
I248V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,889,969 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,804,654 (GRCm39) |
M720T |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,661 (GRCm39) |
H58R |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,803,688 (GRCm39) |
D239E |
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,825,095 (GRCm39) |
M331L |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,656,290 (GRCm39) |
T229A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,848,767 (GRCm39) |
L939P |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,577,916 (GRCm39) |
T72A |
probably benign |
Het |
| Tmem179 |
G |
T |
12: 112,477,390 (GRCm39) |
N31K |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,189 (GRCm39) |
S165G |
|
Het |
| Tubgcp6 |
T |
C |
15: 88,992,186 (GRCm39) |
T600A |
probably damaging |
Het |
| Txlna |
T |
A |
4: 129,528,246 (GRCm39) |
E230D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,089,148 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,665,094 (GRCm39) |
M40K |
possibly damaging |
Het |
| Zfp592 |
C |
T |
7: 80,691,226 (GRCm39) |
S1135L |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,226,610 (GRCm39) |
T244A |
possibly damaging |
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 |
|
R6564:Adam15
|
UTSW |
3 |
89,254,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
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'- ACAACCCTAGAGTCCAGCTTG -3'
(R):5'- CGCGAATAATTACTGGGAGGTG -3'
Sequencing Primer
(F):5'- CAAGGGCAGGCAGGACC -3'
(R):5'- AACTTGCCTGAGTTCGTACAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation