Incidental Mutation 'R6175:Adam5'
ID |
487695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
044317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6175 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25276167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 500
(M500K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
AlphaFold |
Q3TTE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050300
AA Change: M500K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: M500K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
ACR
|
475 |
618 |
6.9e-58 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118419
AA Change: M500K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: M500K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
4.7e-30 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.9e-56 |
PFAM |
DISIN
|
397 |
474 |
1.78e-39 |
SMART |
ACR
|
475 |
618 |
2.06e-55 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130939
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132180
AA Change: M417K
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: M417K
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209935
AA Change: M500K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
97% (85/88) |
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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,902,448 (GRCm39) |
K623E |
probably damaging |
Het |
A530064D06Rik |
T |
A |
17: 48,460,016 (GRCm39) |
S227C |
possibly damaging |
Het |
Adam30 |
A |
T |
3: 98,070,266 (GRCm39) |
I700F |
probably damaging |
Het |
Adgb |
A |
T |
10: 10,274,687 (GRCm39) |
S755T |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,534,124 (GRCm39) |
G5819D |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,763,557 (GRCm39) |
Y17N |
probably damaging |
Het |
Ano2 |
A |
T |
6: 125,969,918 (GRCm39) |
M745L |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,872,074 (GRCm39) |
|
probably null |
Het |
Atg2a |
A |
T |
19: 6,291,759 (GRCm39) |
|
probably benign |
Het |
AU021092 |
G |
T |
16: 5,038,312 (GRCm39) |
|
probably null |
Het |
Bbs1 |
A |
T |
19: 4,940,749 (GRCm39) |
L578Q |
probably damaging |
Het |
Brd9 |
A |
T |
13: 74,108,433 (GRCm39) |
E589D |
probably damaging |
Het |
Calr4 |
A |
G |
4: 109,101,442 (GRCm39) |
D108G |
probably benign |
Het |
Ccdc82 |
A |
G |
9: 13,272,798 (GRCm39) |
D429G |
probably damaging |
Het |
Cdh22 |
G |
T |
2: 164,988,550 (GRCm39) |
N268K |
probably damaging |
Het |
Ceacam12 |
G |
A |
7: 17,801,312 (GRCm39) |
G97D |
probably damaging |
Het |
Clcn1 |
A |
G |
6: 42,291,096 (GRCm39) |
D990G |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,801,004 (GRCm39) |
T84A |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,472,181 (GRCm39) |
P3529S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Efna3 |
GAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGC |
3: 89,230,105 (GRCm39) |
|
probably benign |
Het |
Ehd2 |
G |
A |
7: 15,697,389 (GRCm39) |
Q4* |
probably null |
Het |
Eml5 |
A |
G |
12: 98,760,715 (GRCm39) |
V1726A |
possibly damaging |
Het |
Esam |
A |
G |
9: 37,439,544 (GRCm39) |
T10A |
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,422,633 (GRCm39) |
L95P |
probably benign |
Het |
Fbxw18 |
T |
A |
9: 109,505,947 (GRCm39) |
L441F |
probably damaging |
Het |
Fbxw4 |
A |
G |
19: 45,624,766 (GRCm39) |
S73P |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
Foxp1 |
G |
A |
6: 98,943,037 (GRCm39) |
T237I |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,724,771 (GRCm39) |
I1801N |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hoxa13 |
G |
T |
6: 52,236,908 (GRCm39) |
N281K |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,296,829 (GRCm39) |
T4328A |
probably damaging |
Het |
Htr2a |
C |
G |
14: 74,882,474 (GRCm39) |
Y153* |
probably null |
Het |
Iglv1 |
C |
A |
16: 18,903,844 (GRCm39) |
A92S |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,653,152 (GRCm39) |
S759P |
probably damaging |
Het |
Kctd1 |
G |
T |
18: 15,102,688 (GRCm39) |
S831* |
probably null |
Het |
Kif20a |
T |
A |
18: 34,761,199 (GRCm39) |
S265T |
probably damaging |
Het |
Kif22 |
T |
A |
7: 126,630,228 (GRCm39) |
E436V |
possibly damaging |
Het |
Kif27 |
A |
G |
13: 58,459,051 (GRCm39) |
W927R |
probably damaging |
Het |
Lcorl |
G |
A |
5: 45,933,832 (GRCm39) |
P66L |
probably damaging |
Het |
Lct |
A |
G |
1: 128,255,451 (GRCm39) |
L197P |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,762,714 (GRCm39) |
S14P |
unknown |
Het |
Lnp1 |
A |
G |
16: 56,737,855 (GRCm39) |
S78P |
possibly damaging |
Het |
Map3k19 |
A |
T |
1: 127,750,569 (GRCm39) |
H927Q |
probably benign |
Het |
Meiosin |
C |
A |
7: 18,834,814 (GRCm39) |
|
probably benign |
Het |
Mta3 |
A |
G |
17: 84,099,222 (GRCm39) |
T430A |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,282,875 (GRCm39) |
C627F |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,245,588 (GRCm39) |
D1076G |
probably benign |
Het |
Nck2 |
T |
A |
1: 43,572,729 (GRCm39) |
M1K |
probably null |
Het |
Nipal1 |
A |
G |
5: 72,820,898 (GRCm39) |
N131S |
probably damaging |
Het |
Nlrp9c |
T |
C |
7: 26,077,426 (GRCm39) |
|
probably null |
Het |
Nr2f2 |
A |
G |
7: 70,007,946 (GRCm39) |
S179P |
probably damaging |
Het |
Or1j16 |
A |
G |
2: 36,530,063 (GRCm39) |
D4G |
probably benign |
Het |
Or1j21 |
A |
T |
2: 36,683,980 (GRCm39) |
H244L |
probably damaging |
Het |
Or9g19 |
A |
T |
2: 85,600,652 (GRCm39) |
N169I |
probably benign |
Het |
Oxt |
G |
T |
2: 130,418,163 (GRCm39) |
|
probably benign |
Het |
Pank2 |
T |
A |
2: 131,122,181 (GRCm39) |
Y235* |
probably null |
Het |
Pear1 |
A |
G |
3: 87,659,440 (GRCm39) |
L798P |
possibly damaging |
Het |
Pex14 |
T |
C |
4: 149,046,156 (GRCm39) |
H258R |
probably benign |
Het |
Pmpcb |
A |
G |
5: 21,962,031 (GRCm39) |
I487V |
probably benign |
Het |
Ppie |
T |
C |
4: 123,031,362 (GRCm39) |
E44G |
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 4,905,639 (GRCm39) |
R65* |
probably null |
Het |
Ralgapb |
T |
C |
2: 158,288,075 (GRCm39) |
S371P |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,977,881 (GRCm39) |
H1455R |
probably benign |
Het |
Sacs |
C |
A |
14: 61,450,275 (GRCm39) |
T4107K |
possibly damaging |
Het |
Sec24a |
G |
A |
11: 51,622,718 (GRCm39) |
T386M |
probably damaging |
Het |
Slc10a4 |
A |
T |
5: 73,169,593 (GRCm39) |
Y207F |
possibly damaging |
Het |
Slc30a10 |
T |
C |
1: 185,187,508 (GRCm39) |
L83P |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,840,093 (GRCm39) |
L324* |
probably null |
Het |
Slc7a9 |
A |
T |
7: 35,165,277 (GRCm39) |
Q474L |
probably damaging |
Het |
Smc5 |
C |
A |
19: 23,191,534 (GRCm39) |
V875L |
possibly damaging |
Het |
Snap91 |
T |
C |
9: 86,707,053 (GRCm39) |
R246G |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,203,196 (GRCm39) |
|
probably null |
Het |
Spink14 |
G |
A |
18: 44,164,938 (GRCm39) |
G85E |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
St13 |
A |
G |
15: 81,283,506 (GRCm39) |
|
probably null |
Het |
Stk10 |
A |
G |
11: 32,553,761 (GRCm39) |
M593V |
possibly damaging |
Het |
Tafa1 |
A |
G |
6: 96,092,721 (GRCm39) |
H35R |
probably benign |
Het |
Tex21 |
C |
A |
12: 76,245,707 (GRCm39) |
A530S |
probably benign |
Het |
Tln2 |
T |
A |
9: 67,131,363 (GRCm39) |
K1394N |
probably damaging |
Het |
Trhr2 |
C |
A |
8: 123,084,118 (GRCm39) |
R294L |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,149,708 (GRCm39) |
I2408F |
probably damaging |
Het |
Wdr24 |
T |
C |
17: 26,045,552 (GRCm39) |
L429P |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,210,039 (GRCm39) |
I139N |
possibly damaging |
Het |
Zfp111 |
G |
A |
7: 23,897,554 (GRCm39) |
R686C |
unknown |
Het |
Zfp268 |
A |
T |
4: 145,350,811 (GRCm39) |
|
probably benign |
Het |
Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
Het |
|
Other mutations in Adam5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00823:Adam5
|
APN |
8 |
25,308,758 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01285:Adam5
|
APN |
8 |
25,271,610 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01310:Adam5
|
APN |
8 |
25,232,150 (GRCm39) |
intron |
probably benign |
|
IGL01510:Adam5
|
APN |
8 |
25,294,481 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01570:Adam5
|
APN |
8 |
25,300,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02017:Adam5
|
APN |
8 |
25,271,775 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02191:Adam5
|
APN |
8 |
25,302,439 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Adam5
|
APN |
8 |
25,234,149 (GRCm39) |
intron |
probably benign |
|
IGL02488:Adam5
|
APN |
8 |
25,282,022 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02490:Adam5
|
APN |
8 |
25,271,720 (GRCm39) |
nonsense |
probably null |
|
IGL02499:Adam5
|
APN |
8 |
25,271,581 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02539:Adam5
|
APN |
8 |
25,276,229 (GRCm39) |
nonsense |
probably null |
|
IGL02590:Adam5
|
APN |
8 |
25,234,151 (GRCm39) |
intron |
probably benign |
|
IGL02677:Adam5
|
APN |
8 |
25,302,395 (GRCm39) |
splice site |
probably benign |
|
IGL02679:Adam5
|
APN |
8 |
25,296,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Adam5
|
APN |
8 |
25,294,447 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03146:Adam5
|
APN |
8 |
25,294,519 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03162:Adam5
|
APN |
8 |
25,271,620 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03284:Adam5
|
APN |
8 |
25,276,354 (GRCm39) |
splice site |
probably benign |
|
R0081:Adam5
|
UTSW |
8 |
25,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Adam5
|
UTSW |
8 |
25,237,557 (GRCm39) |
missense |
probably benign |
0.08 |
R0398:Adam5
|
UTSW |
8 |
25,303,448 (GRCm39) |
missense |
probably benign |
0.17 |
R0771:Adam5
|
UTSW |
8 |
25,276,315 (GRCm39) |
missense |
probably benign |
0.04 |
R0925:Adam5
|
UTSW |
8 |
25,302,441 (GRCm39) |
missense |
probably benign |
0.09 |
R1547:Adam5
|
UTSW |
8 |
25,300,729 (GRCm39) |
missense |
probably benign |
0.10 |
R1985:Adam5
|
UTSW |
8 |
25,236,755 (GRCm39) |
missense |
probably benign |
0.01 |
R2115:Adam5
|
UTSW |
8 |
25,234,161 (GRCm39) |
intron |
probably benign |
|
R2125:Adam5
|
UTSW |
8 |
25,305,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Adam5
|
UTSW |
8 |
25,305,496 (GRCm39) |
missense |
probably benign |
0.14 |
R3151:Adam5
|
UTSW |
8 |
25,271,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R3612:Adam5
|
UTSW |
8 |
25,308,105 (GRCm39) |
splice site |
probably benign |
|
R3844:Adam5
|
UTSW |
8 |
25,303,426 (GRCm39) |
missense |
probably benign |
0.12 |
R3873:Adam5
|
UTSW |
8 |
25,305,125 (GRCm39) |
missense |
probably benign |
0.02 |
R4514:Adam5
|
UTSW |
8 |
25,308,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Adam5
|
UTSW |
8 |
25,303,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4866:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4900:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4903:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Adam5
|
UTSW |
8 |
25,276,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Adam5
|
UTSW |
8 |
25,300,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5293:Adam5
|
UTSW |
8 |
25,300,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5724:Adam5
|
UTSW |
8 |
25,294,511 (GRCm39) |
nonsense |
probably null |
|
R5859:Adam5
|
UTSW |
8 |
25,303,477 (GRCm39) |
missense |
probably benign |
|
R6004:Adam5
|
UTSW |
8 |
25,271,685 (GRCm39) |
missense |
probably benign |
0.04 |
R6539:Adam5
|
UTSW |
8 |
25,272,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6994:Adam5
|
UTSW |
8 |
25,276,262 (GRCm39) |
nonsense |
probably null |
|
R6996:Adam5
|
UTSW |
8 |
25,296,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Adam5
|
UTSW |
8 |
25,296,454 (GRCm39) |
missense |
probably benign |
0.00 |
R7115:Adam5
|
UTSW |
8 |
25,271,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7127:Adam5
|
UTSW |
8 |
25,300,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Adam5
|
UTSW |
8 |
25,305,541 (GRCm39) |
missense |
probably benign |
0.45 |
R7780:Adam5
|
UTSW |
8 |
25,294,432 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8027:Adam5
|
UTSW |
8 |
25,272,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Adam5
|
UTSW |
8 |
25,303,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8138:Adam5
|
UTSW |
8 |
25,271,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8305:Adam5
|
UTSW |
8 |
25,300,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8359:Adam5
|
UTSW |
8 |
25,296,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Adam5
|
UTSW |
8 |
25,294,475 (GRCm39) |
nonsense |
probably null |
|
R8743:Adam5
|
UTSW |
8 |
25,276,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Adam5
|
UTSW |
8 |
25,294,372 (GRCm39) |
critical splice donor site |
probably null |
|
R9442:Adam5
|
UTSW |
8 |
25,296,510 (GRCm39) |
missense |
probably damaging |
0.96 |
R9474:Adam5
|
UTSW |
8 |
25,237,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9602:Adam5
|
UTSW |
8 |
25,303,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R9748:Adam5
|
UTSW |
8 |
25,301,068 (GRCm39) |
missense |
probably benign |
0.23 |
X0019:Adam5
|
UTSW |
8 |
25,302,459 (GRCm39) |
missense |
probably benign |
0.00 |
X0022:Adam5
|
UTSW |
8 |
25,303,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0027:Adam5
|
UTSW |
8 |
25,308,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCATTCAATGTCAGTGTAGG -3'
(R):5'- GAATGATGTGGTCTGTAGAAAGTC -3'
Sequencing Primer
(F):5'- CAATGTCAGTGTAGGGGGTCC -3'
(R):5'- AAAGTCGGTAGATGAATGTGACTTTG -3'
|
Posted On |
2017-10-10 |