Incidental Mutation 'R8743:Adam5'
| ID |
663352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
068588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
24727093-24824369 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24786248 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 468
(C468S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
| AlphaFold |
Q3TTE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050300
AA Change: C468S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: C468S
| 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 damaging
Transcript: ENSMUST00000118419
AA Change: C468S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: C468S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: C385S
| 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 damaging
Transcript: ENSMUST00000209935
AA Change: C468S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| 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. 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
A |
G |
4: 42,971,030 (GRCm38) |
H121R |
probably benign |
Het |
| 4930430A15Rik |
T |
C |
2: 111,169,672 (GRCm38) |
T198A |
unknown |
Het |
| Adamts7 |
G |
A |
9: 90,195,243 (GRCm38) |
R1321H |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,280,448 (GRCm38) |
V188A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 108,080,116 (GRCm38) |
V134L |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 109,837,791 (GRCm38) |
N323D |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,748,864 (GRCm38) |
|
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,360,453 (GRCm38) |
|
probably null |
Het |
| Armc1 |
C |
T |
3: 19,157,536 (GRCm38) |
C40Y |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,066,809 (GRCm38) |
V309F |
probably damaging |
Het |
| Atp4b |
A |
T |
8: 13,393,489 (GRCm38) |
M63K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,105,548 (GRCm38) |
L1237P |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,774,283 (GRCm38) |
E19G |
probably damaging |
Het |
| Ccr2 |
A |
C |
9: 124,106,094 (GRCm38) |
Y137S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,841,484 (GRCm38) |
D404N |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,118,585 (GRCm38) |
|
probably null |
Het |
| Chd5 |
T |
A |
4: 152,366,405 (GRCm38) |
V662E |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,408,013 (GRCm38) |
D544G |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,767,606 (GRCm38) |
|
probably benign |
Het |
| Coro6 |
T |
A |
11: 77,466,439 (GRCm38) |
I158N |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,642,993 (GRCm38) |
S307G |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 32,924,243 (GRCm38) |
M583K |
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,273,252 (GRCm38) |
S1170* |
probably null |
Het |
| Dusp16 |
A |
T |
6: 134,717,970 (GRCm38) |
S633T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,572,123 (GRCm38) |
E739G |
probably damaging |
Het |
| Fam193a |
T |
A |
5: 34,420,157 (GRCm38) |
|
probably null |
Het |
| Fam71e2 |
T |
A |
7: 4,757,815 (GRCm38) |
T633S |
|
Het |
| Fat4 |
G |
A |
3: 38,888,443 (GRCm38) |
S495N |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,784,583 (GRCm38) |
Y556C |
probably damaging |
Het |
| Gc |
A |
T |
5: 89,443,452 (GRCm38) |
D142E |
probably benign |
Het |
| Gda |
A |
T |
19: 21,400,588 (GRCm38) |
F369Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 62,060,821 (GRCm38) |
S349R |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,722,075 (GRCm38) |
L351P |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,084,558 (GRCm38) |
|
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,787,323 (GRCm38) |
Y323F |
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,708,031 (GRCm38) |
N589D |
probably damaging |
Het |
| Hsd17b3 |
A |
C |
13: 64,062,898 (GRCm38) |
D214E |
probably benign |
Het |
| Kat6a |
A |
G |
8: 22,939,006 (GRCm38) |
D1459G |
possibly damaging |
Het |
| Lad1 |
G |
A |
1: 135,831,195 (GRCm38) |
R465H |
probably benign |
Het |
| Lcmt1 |
T |
A |
7: 123,400,468 (GRCm38) |
D46E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,987,117 (GRCm38) |
D155N |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,921,057 (GRCm38) |
R796L |
probably benign |
Het |
| Nat8l |
T |
A |
5: 33,997,166 (GRCm38) |
L108Q |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,418,747 (GRCm38) |
V632A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 76,909,758 (GRCm38) |
E496G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,528,830 (GRCm38) |
D258G |
probably damaging |
Het |
| Olfr874 |
G |
T |
9: 37,746,878 (GRCm38) |
C248F |
probably benign |
Het |
| Olfr923 |
A |
T |
9: 38,827,699 (GRCm38) |
I3F |
probably benign |
Het |
| Papln |
A |
G |
12: 83,782,990 (GRCm38) |
K962E |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 36,994,319 (GRCm38) |
M618K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,714,566 (GRCm38) |
D1066G |
|
Het |
| Phip |
A |
T |
9: 82,927,087 (GRCm38) |
M446K |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 30,083,306 (GRCm38) |
K380R |
probably benign |
Het |
| Ppa1 |
C |
A |
10: 61,660,979 (GRCm38) |
A82E |
possibly damaging |
Het |
| Prune2 |
A |
C |
19: 17,119,556 (GRCm38) |
D808A |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,878,467 (GRCm38) |
L1829R |
probably damaging |
Het |
| Rtp4 |
A |
C |
16: 23,613,116 (GRCm38) |
K133Q |
possibly damaging |
Het |
| Scaf11 |
C |
T |
15: 96,415,788 (GRCm38) |
A1371T |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,494,948 (GRCm38) |
H267L |
probably benign |
Het |
| Slc47a2 |
T |
G |
11: 61,342,762 (GRCm38) |
D6A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,819,529 (GRCm38) |
V329D |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,930,033 (GRCm38) |
S377P |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,317,519 (GRCm38) |
|
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,941,471 (GRCm38) |
Y303F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 130,143,498 (GRCm38) |
D407G |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,212,811 (GRCm38) |
E153G |
possibly damaging |
Het |
| Upb1 |
A |
G |
10: 75,439,876 (GRCm38) |
Y365C |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,409,826 (GRCm38) |
S164T |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 34,125,554 (GRCm38) |
G202R |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,244,024 (GRCm38) |
C770Y |
probably damaging |
Het |
|
| Other mutations in Adam5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Adam5
|
APN |
8 |
24,818,742 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01285:Adam5
|
APN |
8 |
24,781,594 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01310:Adam5
|
APN |
8 |
24,742,134 (GRCm38) |
intron |
probably benign |
|
|
IGL01510:Adam5
|
APN |
8 |
24,804,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01570:Adam5
|
APN |
8 |
24,810,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02017:Adam5
|
APN |
8 |
24,781,759 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02191:Adam5
|
APN |
8 |
24,812,423 (GRCm38) |
nonsense |
probably null |
|
|
IGL02397:Adam5
|
APN |
8 |
24,744,133 (GRCm38) |
intron |
probably benign |
|
|
IGL02488:Adam5
|
APN |
8 |
24,792,006 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02490:Adam5
|
APN |
8 |
24,781,704 (GRCm38) |
nonsense |
probably null |
|
|
IGL02499:Adam5
|
APN |
8 |
24,781,565 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02539:Adam5
|
APN |
8 |
24,786,213 (GRCm38) |
nonsense |
probably null |
|
|
IGL02590:Adam5
|
APN |
8 |
24,744,135 (GRCm38) |
intron |
probably benign |
|
|
IGL02677:Adam5
|
APN |
8 |
24,812,379 (GRCm38) |
splice site |
probably benign |
|
|
IGL02679:Adam5
|
APN |
8 |
24,806,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02982:Adam5
|
APN |
8 |
24,804,431 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03146:Adam5
|
APN |
8 |
24,804,503 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03162:Adam5
|
APN |
8 |
24,781,604 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL03284:Adam5
|
APN |
8 |
24,786,338 (GRCm38) |
splice site |
probably benign |
|
|
R0081:Adam5
|
UTSW |
8 |
24,781,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0377:Adam5
|
UTSW |
8 |
24,747,541 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0398:Adam5
|
UTSW |
8 |
24,813,432 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0771:Adam5
|
UTSW |
8 |
24,786,299 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0925:Adam5
|
UTSW |
8 |
24,812,425 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1547:Adam5
|
UTSW |
8 |
24,810,713 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1985:Adam5
|
UTSW |
8 |
24,746,739 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2115:Adam5
|
UTSW |
8 |
24,744,145 (GRCm38) |
intron |
probably benign |
|
|
R2125:Adam5
|
UTSW |
8 |
24,815,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Adam5
|
UTSW |
8 |
24,815,480 (GRCm38) |
missense |
probably benign |
0.14 |
|
R3151:Adam5
|
UTSW |
8 |
24,781,631 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3612:Adam5
|
UTSW |
8 |
24,818,089 (GRCm38) |
splice site |
probably benign |
|
|
R3844:Adam5
|
UTSW |
8 |
24,813,410 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3873:Adam5
|
UTSW |
8 |
24,815,109 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4514:Adam5
|
UTSW |
8 |
24,818,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4843:Adam5
|
UTSW |
8 |
24,813,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4866:Adam5
|
UTSW |
8 |
24,742,156 (GRCm38) |
splice site |
probably null |
|
|
R4866:Adam5
|
UTSW |
8 |
24,781,603 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4900:Adam5
|
UTSW |
8 |
24,781,603 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4900:Adam5
|
UTSW |
8 |
24,742,156 (GRCm38) |
splice site |
probably null |
|
|
R4903:Adam5
|
UTSW |
8 |
24,786,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4936:Adam5
|
UTSW |
8 |
24,786,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Adam5
|
UTSW |
8 |
24,786,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5259:Adam5
|
UTSW |
8 |
24,810,834 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5293:Adam5
|
UTSW |
8 |
24,810,706 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5724:Adam5
|
UTSW |
8 |
24,804,495 (GRCm38) |
nonsense |
probably null |
|
|
R5859:Adam5
|
UTSW |
8 |
24,813,461 (GRCm38) |
missense |
probably benign |
|
|
R6004:Adam5
|
UTSW |
8 |
24,781,669 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6175:Adam5
|
UTSW |
8 |
24,786,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6539:Adam5
|
UTSW |
8 |
24,782,600 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6994:Adam5
|
UTSW |
8 |
24,786,246 (GRCm38) |
nonsense |
probably null |
|
|
R6996:Adam5
|
UTSW |
8 |
24,806,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7009:Adam5
|
UTSW |
8 |
24,806,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7115:Adam5
|
UTSW |
8 |
24,781,696 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7127:Adam5
|
UTSW |
8 |
24,810,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7469:Adam5
|
UTSW |
8 |
24,815,525 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7780:Adam5
|
UTSW |
8 |
24,804,416 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8027:Adam5
|
UTSW |
8 |
24,782,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8069:Adam5
|
UTSW |
8 |
24,813,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8138:Adam5
|
UTSW |
8 |
24,781,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8305:Adam5
|
UTSW |
8 |
24,810,703 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8359:Adam5
|
UTSW |
8 |
24,806,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8480:Adam5
|
UTSW |
8 |
24,804,459 (GRCm38) |
nonsense |
probably null |
|
|
R9000:Adam5
|
UTSW |
8 |
24,804,356 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9442:Adam5
|
UTSW |
8 |
24,806,494 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9474:Adam5
|
UTSW |
8 |
24,747,524 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9602:Adam5
|
UTSW |
8 |
24,813,386 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9748:Adam5
|
UTSW |
8 |
24,811,052 (GRCm38) |
missense |
probably benign |
0.23 |
|
X0019:Adam5
|
UTSW |
8 |
24,812,443 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0022:Adam5
|
UTSW |
8 |
24,813,563 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
X0027:Adam5
|
UTSW |
8 |
24,818,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTGAAGAATTGAATAATGGGC -3'
(R):5'- TGATTCATCCTAAGGGAGGCC -3'
Sequencing Primer
(F):5'- CTGAAGAATTGAATAATGGGCATTGG -3'
(R):5'- AATGGGGCCACCTCATGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation