Incidental Mutation 'R4903:Adam5'
ID |
377950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
042506-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4903 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25276248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 473
(Y473C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
AlphaFold |
Q3TTE0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050300
AA Change: Y473C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: Y473C
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: Y473C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: Y473C
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: Y390C
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: Y390C
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: Y473C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
Abca9 |
A |
G |
11: 110,037,827 (GRCm39) |
Y508H |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,546,691 (GRCm39) |
L1347H |
probably damaging |
Het |
Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,627,817 (GRCm39) |
I207M |
possibly damaging |
Het |
Akna |
C |
A |
4: 63,292,274 (GRCm39) |
R1130S |
probably damaging |
Het |
Alg12 |
A |
T |
15: 88,698,743 (GRCm39) |
I194N |
probably damaging |
Het |
Alk |
T |
A |
17: 72,176,558 (GRCm39) |
H1582L |
probably damaging |
Het |
Atn1 |
G |
C |
6: 124,720,220 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
T |
C |
16: 8,478,864 (GRCm39) |
T130A |
probably damaging |
Het |
Chrna3 |
T |
C |
9: 54,922,810 (GRCm39) |
T333A |
probably benign |
Het |
Ctsr |
T |
A |
13: 61,310,945 (GRCm39) |
I34L |
probably benign |
Het |
Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
Dars2 |
G |
C |
1: 160,878,941 (GRCm39) |
P362R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,894,812 (GRCm39) |
E3459G |
probably damaging |
Het |
Dus2 |
G |
A |
8: 106,771,437 (GRCm39) |
D188N |
probably benign |
Het |
Ece2 |
C |
T |
16: 20,449,972 (GRCm39) |
R189* |
probably null |
Het |
Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
Egr2 |
T |
A |
10: 67,374,163 (GRCm39) |
I51N |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
G2e3 |
A |
G |
12: 51,418,413 (GRCm39) |
I603V |
probably benign |
Het |
Gm11564 |
A |
C |
11: 99,705,858 (GRCm39) |
C191G |
unknown |
Het |
Gpatch8 |
A |
G |
11: 102,370,959 (GRCm39) |
S860P |
unknown |
Het |
Gprin1 |
C |
G |
13: 54,885,742 (GRCm39) |
W844S |
probably damaging |
Het |
Hhipl2 |
T |
A |
1: 183,207,698 (GRCm39) |
Y252* |
probably null |
Het |
Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
Hrg |
A |
G |
16: 22,779,901 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
C |
T |
8: 72,947,372 (GRCm39) |
A23V |
probably benign |
Het |
Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,252,436 (GRCm39) |
S129G |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,949,456 (GRCm39) |
E1579K |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,049,789 (GRCm39) |
I579N |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,832,482 (GRCm39) |
|
probably null |
Het |
Man2c1 |
C |
A |
9: 57,046,240 (GRCm39) |
Q465K |
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,994,235 (GRCm39) |
L1043Q |
probably null |
Het |
Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
Mapk8ip3 |
A |
G |
17: 25,120,183 (GRCm39) |
S946P |
probably benign |
Het |
Mrpl50 |
T |
C |
4: 49,514,488 (GRCm39) |
Y61C |
probably damaging |
Het |
Myf5 |
A |
T |
10: 107,321,733 (GRCm39) |
C20* |
probably null |
Het |
Nek11 |
T |
C |
9: 105,191,921 (GRCm39) |
K163R |
possibly damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,383 (GRCm39) |
H53L |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,648,342 (GRCm39) |
I276L |
probably benign |
Het |
Pcdhga9 |
C |
A |
18: 37,872,058 (GRCm39) |
T629K |
probably damaging |
Het |
Pglyrp1 |
A |
G |
7: 18,624,128 (GRCm39) |
N137S |
probably benign |
Het |
Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
Pitpnm2 |
T |
A |
5: 124,290,668 (GRCm39) |
Y6F |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,790,976 (GRCm39) |
V1057G |
probably benign |
Het |
Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,532,093 (GRCm39) |
M586K |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,557,030 (GRCm39) |
|
probably null |
Het |
Rasal3 |
C |
T |
17: 32,616,357 (GRCm39) |
C278Y |
probably damaging |
Het |
Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
Sema3d |
A |
G |
5: 12,613,125 (GRCm39) |
K401E |
probably benign |
Het |
Sema7a |
T |
C |
9: 57,862,378 (GRCm39) |
Y194H |
probably benign |
Het |
Senp5 |
A |
T |
16: 31,802,117 (GRCm39) |
Y585N |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
Shbg |
C |
T |
11: 69,505,912 (GRCm39) |
S365N |
probably benign |
Het |
Slc39a6 |
A |
T |
18: 24,730,925 (GRCm39) |
S65T |
probably damaging |
Het |
Stk3 |
T |
C |
15: 34,959,212 (GRCm39) |
E320G |
probably damaging |
Het |
Syk |
T |
A |
13: 52,765,117 (GRCm39) |
H81Q |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,658,437 (GRCm39) |
W1470R |
probably damaging |
Het |
Thada |
C |
A |
17: 84,559,828 (GRCm39) |
V1450L |
possibly damaging |
Het |
Tmem241 |
A |
G |
18: 12,237,176 (GRCm39) |
S87P |
probably damaging |
Het |
Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
Trim40 |
T |
C |
17: 37,194,117 (GRCm39) |
E192G |
possibly damaging |
Het |
Trip11 |
A |
T |
12: 101,853,065 (GRCm39) |
|
probably null |
Het |
Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
Tshr |
A |
G |
12: 91,367,962 (GRCm39) |
D35G |
probably benign |
Het |
Tssc4 |
T |
C |
7: 142,624,322 (GRCm39) |
V210A |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,747,201 (GRCm39) |
I680N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl4a |
T |
C |
18: 80,250,493 (GRCm39) |
F30L |
probably damaging |
Het |
Ubac2 |
G |
T |
14: 122,231,650 (GRCm39) |
C192F |
probably benign |
Het |
Vmn1r12 |
A |
G |
6: 57,136,502 (GRCm39) |
T156A |
possibly damaging |
Het |
Zfp747l1 |
T |
A |
7: 126,984,578 (GRCm39) |
T175S |
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 |
|
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 |
|
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'- TTAGCTGTTACGAGGTGACAC -3'
(R):5'- GATTCATCCTAAGGGAGGCC -3'
Sequencing Primer
(F):5'- ACGAGGTGACACATTTTTGTCC -3'
(R):5'- GAGCCTTTCCTTTTACAATGACAGGG -3'
|
Posted On |
2016-04-15 |