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 |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25276264 bp (GRCm39)
|
| 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 |
|---|
| Adamts7 |
G |
A |
9: 90,077,296 (GRCm39) |
R1321H |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,792 (GRCm39) |
V188A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,564,423 (GRCm39) |
N323D |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,638,876 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,667,882 (GRCm39) |
|
probably null |
Het |
| Armc1 |
C |
T |
3: 19,211,700 (GRCm39) |
C40Y |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,214,928 (GRCm39) |
V309F |
probably damaging |
Het |
| Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,033,286 (GRCm39) |
L1237P |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,702,020 (GRCm39) |
E19G |
probably damaging |
Het |
| Ccr2 |
A |
C |
9: 123,906,131 (GRCm39) |
Y137S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,046,323 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
A |
4: 152,450,862 (GRCm39) |
V662E |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,057,220 (GRCm39) |
D544G |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Coro6 |
T |
A |
11: 77,357,265 (GRCm39) |
I158N |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,642,992 (GRCm39) |
S307G |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,081,587 (GRCm39) |
M583K |
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,223,252 (GRCm39) |
S1170* |
probably null |
Het |
| Dusp16 |
A |
T |
6: 134,694,933 (GRCm39) |
S633T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,572,123 (GRCm39) |
E739G |
probably damaging |
Het |
| Fam193a |
T |
A |
5: 34,577,501 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
A |
3: 38,942,592 (GRCm39) |
S495N |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,675,409 (GRCm39) |
Y556C |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,814 (GRCm39) |
T633S |
|
Het |
| Gc |
A |
T |
5: 89,591,311 (GRCm39) |
D142E |
probably benign |
Het |
| Gda |
A |
T |
19: 21,377,952 (GRCm39) |
F369Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,968,103 (GRCm39) |
S349R |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,612,901 (GRCm39) |
L351P |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,764,284 (GRCm39) |
Y323F |
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,598,858 (GRCm39) |
N589D |
probably damaging |
Het |
| Hsd17b3 |
A |
C |
13: 64,210,712 (GRCm39) |
D214E |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,022 (GRCm39) |
D1459G |
possibly damaging |
Het |
| Lad1 |
G |
A |
1: 135,758,933 (GRCm39) |
R465H |
probably benign |
Het |
| Lcmt1 |
T |
A |
7: 122,999,691 (GRCm39) |
D46E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,741,427 (GRCm39) |
R796L |
probably benign |
Het |
| Nat8l |
T |
A |
5: 34,154,510 (GRCm39) |
L108Q |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,118,172 (GRCm39) |
V632A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,636,387 (GRCm39) |
E496G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,065 (GRCm39) |
D258G |
probably damaging |
Het |
| Or8b12 |
G |
T |
9: 37,658,174 (GRCm39) |
C248F |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,738,995 (GRCm39) |
I3F |
probably benign |
Het |
| Papln |
A |
G |
12: 83,829,764 (GRCm39) |
K962E |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,372 (GRCm39) |
M618K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,580 (GRCm39) |
D1066G |
|
Het |
| Phip |
A |
T |
9: 82,809,140 (GRCm39) |
M446K |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,973,318 (GRCm39) |
K380R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,000,017 (GRCm39) |
T198A |
unknown |
Het |
| Ppa1 |
C |
A |
10: 61,496,758 (GRCm39) |
A82E |
possibly damaging |
Het |
| Prune2 |
A |
C |
19: 17,096,920 (GRCm39) |
D808A |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,828,467 (GRCm39) |
L1829R |
probably damaging |
Het |
| Rtp4 |
A |
C |
16: 23,431,866 (GRCm39) |
K133Q |
possibly damaging |
Het |
| Scaf11 |
C |
T |
15: 96,313,669 (GRCm39) |
A1371T |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,931 (GRCm39) |
H267L |
probably benign |
Het |
| Slc47a2 |
T |
G |
11: 61,233,588 (GRCm39) |
D6A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,765,255 (GRCm39) |
V329D |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,859 (GRCm39) |
S377P |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,030 (GRCm39) |
H121R |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,369 (GRCm39) |
Y303F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,418 (GRCm39) |
D407G |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,090,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Upb1 |
A |
G |
10: 75,275,710 (GRCm39) |
Y365C |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,317,247 (GRCm39) |
S164T |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 33,824,979 (GRCm39) |
G202R |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,309,084 (GRCm39) |
C770Y |
probably damaging |
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 |
|
R6175:Adam5
|
UTSW |
8 |
25,276,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TGTCCTGAAGAATTGAATAATGGGC -3'
(R):5'- TGATTCATCCTAAGGGAGGCC -3'
Sequencing Primer
(F):5'- CTGAAGAATTGAATAATGGGCATTGG -3'
(R):5'- AATGGGGCCACCTCATGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation