Incidental Mutation 'R4936:Adam5'
ID |
380382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
042536-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4936 (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 25276287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 460
(Y460C)
|
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: Y460C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: Y460C
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: Y460C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: Y460C
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: Y377C
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: Y377C
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: Y460C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,212 (GRCm39) |
F183L |
possibly damaging |
Het |
4930590J08Rik |
T |
A |
6: 91,921,245 (GRCm39) |
M775K |
probably damaging |
Het |
Actn1 |
T |
G |
12: 80,219,772 (GRCm39) |
I700L |
probably benign |
Het |
Akna |
C |
T |
4: 63,313,502 (GRCm39) |
G207E |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,748,688 (GRCm39) |
H527L |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,207,779 (GRCm39) |
N383K |
probably damaging |
Het |
Apba3 |
C |
T |
10: 81,105,204 (GRCm39) |
|
probably null |
Het |
Atp9b |
C |
A |
18: 80,779,308 (GRCm39) |
V1121F |
possibly damaging |
Het |
Bsn |
T |
C |
9: 107,988,960 (GRCm39) |
Y2264C |
probably damaging |
Het |
Bst1 |
A |
G |
5: 43,997,799 (GRCm39) |
D266G |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,060,202 (GRCm39) |
|
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,637,664 (GRCm39) |
K156E |
probably benign |
Het |
Cln3 |
T |
A |
7: 126,174,393 (GRCm39) |
H315L |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,227,796 (GRCm39) |
F479S |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,837,958 (GRCm39) |
D826G |
unknown |
Het |
Cyp27a1 |
T |
C |
1: 74,774,564 (GRCm39) |
V194A |
probably benign |
Het |
Dis3l2 |
C |
T |
1: 86,971,890 (GRCm39) |
P643S |
probably benign |
Het |
Dpf3 |
T |
C |
12: 83,378,740 (GRCm39) |
D108G |
probably damaging |
Het |
Eif2b4 |
C |
T |
5: 31,350,241 (GRCm39) |
G27D |
probably benign |
Het |
Eif4a1 |
T |
G |
11: 69,563,251 (GRCm39) |
|
probably benign |
Het |
Espl1 |
A |
T |
15: 102,213,372 (GRCm39) |
D566V |
probably damaging |
Het |
Ext2 |
T |
A |
2: 93,644,024 (GRCm39) |
R86* |
probably null |
Het |
Fasn |
A |
T |
11: 120,706,911 (GRCm39) |
F914I |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,043,378 (GRCm39) |
L477P |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,303,452 (GRCm39) |
K441N |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,384 (GRCm39) |
S3706T |
probably benign |
Het |
Gabra5 |
A |
T |
7: 57,058,547 (GRCm39) |
N400K |
probably benign |
Het |
Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
Gli2 |
A |
G |
1: 118,763,870 (GRCm39) |
V1427A |
probably benign |
Het |
Gm7334 |
A |
T |
17: 51,005,855 (GRCm39) |
Y47F |
probably damaging |
Het |
Gm8674 |
T |
G |
13: 50,054,791 (GRCm39) |
|
noncoding transcript |
Het |
Gmeb2 |
G |
T |
2: 180,896,039 (GRCm39) |
T377K |
probably benign |
Het |
Gp9 |
T |
A |
6: 87,756,229 (GRCm39) |
D81E |
probably benign |
Het |
Il5ra |
T |
A |
6: 106,715,123 (GRCm39) |
I212F |
possibly damaging |
Het |
Klhl18 |
G |
T |
9: 110,258,029 (GRCm39) |
N470K |
possibly damaging |
Het |
Lfng |
G |
T |
5: 140,598,150 (GRCm39) |
|
probably null |
Het |
Lpo |
A |
G |
11: 87,701,166 (GRCm39) |
I430T |
probably benign |
Het |
Lrrc31 |
C |
T |
3: 30,743,417 (GRCm39) |
D183N |
probably damaging |
Het |
Meis2 |
T |
C |
2: 115,694,893 (GRCm39) |
T410A |
probably benign |
Het |
Myo6 |
A |
G |
9: 80,214,963 (GRCm39) |
D1232G |
probably damaging |
Het |
Ncapd2 |
C |
T |
6: 125,146,803 (GRCm39) |
R1261H |
probably benign |
Het |
Nfkb1 |
C |
T |
3: 135,319,743 (GRCm39) |
V251M |
probably damaging |
Het |
Nmbr |
C |
A |
10: 14,642,730 (GRCm39) |
H96Q |
probably damaging |
Het |
Nop14 |
C |
T |
5: 34,809,737 (GRCm39) |
R256H |
probably damaging |
Het |
Nqo2 |
T |
A |
13: 34,165,501 (GRCm39) |
Y133N |
probably damaging |
Het |
Or1f12 |
T |
C |
13: 21,721,357 (GRCm39) |
I273V |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,157 (GRCm39) |
I213V |
probably benign |
Het |
Pbld2 |
C |
A |
10: 62,888,017 (GRCm39) |
S168R |
probably damaging |
Het |
Pcdhb7 |
G |
T |
18: 37,475,202 (GRCm39) |
G113* |
probably null |
Het |
Pcdhb7 |
G |
T |
18: 37,475,203 (GRCm39) |
G113V |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,355,687 (GRCm39) |
T1066S |
probably damaging |
Het |
Prdm8 |
A |
T |
5: 98,332,881 (GRCm39) |
|
probably null |
Het |
Prdm8 |
G |
T |
5: 98,332,882 (GRCm39) |
|
probably null |
Het |
Prkg1 |
T |
C |
19: 30,563,775 (GRCm39) |
Y479C |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,539 (GRCm39) |
T65A |
probably benign |
Het |
Rbbp6 |
C |
T |
7: 122,598,926 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
C |
G |
4: 132,063,046 (GRCm39) |
V187L |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,301,124 (GRCm39) |
M285K |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,745 (GRCm39) |
*602Q |
probably null |
Het |
Rxfp3 |
T |
G |
15: 11,036,866 (GRCm39) |
S169R |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,118,253 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
T |
4: 87,145,584 (GRCm39) |
F157I |
probably damaging |
Het |
Slc25a20 |
T |
C |
9: 108,559,191 (GRCm39) |
Y186H |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,070,864 (GRCm39) |
R408G |
probably damaging |
Het |
Slc44a5 |
T |
G |
3: 153,959,353 (GRCm39) |
I348S |
probably damaging |
Het |
Slc8a2 |
A |
T |
7: 15,868,100 (GRCm39) |
K111* |
probably null |
Het |
Smc5 |
A |
G |
19: 23,211,367 (GRCm39) |
V589A |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,605,882 (GRCm39) |
M541T |
probably benign |
Het |
Tie1 |
T |
A |
4: 118,341,968 (GRCm39) |
|
silent |
Het |
Tln1 |
A |
G |
4: 43,547,522 (GRCm39) |
F813S |
possibly damaging |
Het |
Tnrc18 |
A |
T |
5: 142,751,732 (GRCm39) |
L1191* |
probably null |
Het |
Tubb2a |
A |
C |
13: 34,259,240 (GRCm39) |
Y183* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,123,877 (GRCm39) |
V343E |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,524,327 (GRCm39) |
D107V |
possibly damaging |
Het |
Vwa5a |
T |
G |
9: 38,647,494 (GRCm39) |
S624R |
probably benign |
Het |
Wwox |
G |
A |
8: 115,433,098 (GRCm39) |
V255I |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,638,804 (GRCm39) |
K546E |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,163 (GRCm39) |
F801L |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,577,589 (GRCm39) |
I1175V |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,480,933 (GRCm39) |
C1037S |
possibly damaging |
Het |
Zfp786 |
A |
T |
6: 47,798,202 (GRCm39) |
C245* |
probably null |
Het |
Zfp827 |
T |
C |
8: 79,787,812 (GRCm39) |
V326A |
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 |
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'- GTCCTGAAGAATTGAATAATGGGC -3'
(R):5'- CTGATTCATCCTAAGGGAGGCC -3'
Sequencing Primer
(F):5'- CTGAAGAATTGAATAATGGGCATTGG -3'
(R):5'- AATGGGGCCACCTCATGAG -3'
|
Posted On |
2016-04-15 |