Incidental Mutation 'R4028:Adam12'
ID |
313092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam12
|
Ensembl Gene |
ENSMUSG00000054555 |
Gene Name |
ADAM metallopeptidase domain 12 |
Synonyms |
Mltna, ADAM12 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.386)
|
Stock # |
R4028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133531725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 503
(N503K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000138363]
|
AlphaFold |
Q61824 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067680
AA Change: N503K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065213 Gene: ENSMUSG00000054555 AA Change: N503K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
35 |
165 |
1.1e-27 |
PFAM |
Pfam:Reprolysin_5
|
210 |
392 |
2.1e-24 |
PFAM |
Pfam:Reprolysin_4
|
210 |
408 |
3.8e-16 |
PFAM |
Pfam:Reprolysin
|
212 |
414 |
1.4e-74 |
PFAM |
Pfam:Reprolysin_2
|
232 |
404 |
6e-18 |
PFAM |
Pfam:Reprolysin_3
|
236 |
359 |
1.3e-16 |
PFAM |
DISIN
|
431 |
506 |
4.29e-42 |
SMART |
ACR
|
507 |
650 |
1.75e-67 |
SMART |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138363
AA Change: N181K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000114874 Gene: ENSMUSG00000054555 AA Change: N181K
Domain | Start | End | E-Value | Type |
Pfam:Reprolysin
|
4 |
92 |
4.5e-24 |
PFAM |
Pfam:Reprolysin_2
|
6 |
82 |
2.1e-11 |
PFAM |
Pfam:Reprolysin_5
|
9 |
70 |
2.8e-11 |
PFAM |
Pfam:Reprolysin_4
|
11 |
87 |
8.9e-8 |
PFAM |
DISIN
|
109 |
184 |
4.29e-42 |
SMART |
ACR
|
185 |
328 |
1.75e-67 |
SMART |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
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 that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016] PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
T |
A |
2: 25,167,750 (GRCm39) |
I439N |
probably damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,819,352 (GRCm39) |
N520S |
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Clec1b |
G |
A |
6: 129,378,774 (GRCm39) |
R87H |
probably benign |
Het |
Cox7a2l |
A |
G |
17: 83,810,069 (GRCm39) |
I123T |
probably benign |
Het |
Cyp2j5 |
A |
T |
4: 96,529,653 (GRCm39) |
Y239* |
probably null |
Het |
Dnajc6 |
G |
A |
4: 101,474,054 (GRCm39) |
C485Y |
probably damaging |
Het |
Dync1i1 |
C |
T |
6: 5,961,842 (GRCm39) |
S341F |
probably damaging |
Het |
Fbln1 |
A |
G |
15: 85,111,317 (GRCm39) |
N157S |
probably benign |
Het |
Get1 |
T |
C |
16: 95,946,784 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
A |
G |
1: 186,958,337 (GRCm39) |
S231G |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,713,433 (GRCm39) |
D816G |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,509,941 (GRCm39) |
F1261Y |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,842,458 (GRCm39) |
E790G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Or4c3 |
T |
C |
2: 89,851,567 (GRCm39) |
N281S |
probably damaging |
Het |
Or52k2 |
A |
T |
7: 102,254,500 (GRCm39) |
D313V |
possibly damaging |
Het |
Pibf1 |
A |
G |
14: 99,416,777 (GRCm39) |
E450G |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pkdrej |
A |
T |
15: 85,701,693 (GRCm39) |
N1414K |
probably benign |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Slc28a3 |
T |
C |
13: 58,758,570 (GRCm39) |
S18G |
probably benign |
Het |
Slc7a1 |
C |
A |
5: 148,282,622 (GRCm39) |
C75F |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,079,486 (GRCm39) |
D1865G |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,769,344 (GRCm39) |
I378N |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,452 (GRCm39) |
V309A |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Zdhhc11 |
T |
C |
13: 74,125,390 (GRCm39) |
L210P |
probably damaging |
Het |
|
Other mutations in Adam12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00474:Adam12
|
APN |
7 |
133,511,610 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01403:Adam12
|
APN |
7 |
133,521,339 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01482:Adam12
|
APN |
7 |
133,569,577 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01922:Adam12
|
APN |
7 |
133,539,201 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Adam12
|
APN |
7 |
133,511,548 (GRCm39) |
splice site |
probably benign |
|
IGL03401:Adam12
|
APN |
7 |
133,518,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R0122:Adam12
|
UTSW |
7 |
133,614,077 (GRCm39) |
missense |
probably benign |
0.45 |
R0200:Adam12
|
UTSW |
7 |
133,576,145 (GRCm39) |
splice site |
probably null |
|
R0463:Adam12
|
UTSW |
7 |
133,576,145 (GRCm39) |
splice site |
probably null |
|
R0927:Adam12
|
UTSW |
7 |
133,599,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R1258:Adam12
|
UTSW |
7 |
133,539,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Adam12
|
UTSW |
7 |
133,533,543 (GRCm39) |
missense |
probably benign |
0.03 |
R1483:Adam12
|
UTSW |
7 |
133,531,754 (GRCm39) |
missense |
probably benign |
0.41 |
R1692:Adam12
|
UTSW |
7 |
133,489,673 (GRCm39) |
makesense |
probably null |
|
R1797:Adam12
|
UTSW |
7 |
133,569,590 (GRCm39) |
missense |
probably benign |
0.03 |
R2134:Adam12
|
UTSW |
7 |
133,614,017 (GRCm39) |
nonsense |
probably null |
|
R2230:Adam12
|
UTSW |
7 |
133,521,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R2350:Adam12
|
UTSW |
7 |
133,521,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2944:Adam12
|
UTSW |
7 |
133,577,236 (GRCm39) |
missense |
probably null |
0.02 |
R3688:Adam12
|
UTSW |
7 |
133,566,525 (GRCm39) |
nonsense |
probably null |
|
R3747:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R3749:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R3750:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R4130:Adam12
|
UTSW |
7 |
133,514,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4131:Adam12
|
UTSW |
7 |
133,514,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4346:Adam12
|
UTSW |
7 |
133,583,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4701:Adam12
|
UTSW |
7 |
133,518,191 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4887:Adam12
|
UTSW |
7 |
133,774,550 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5355:Adam12
|
UTSW |
7 |
133,489,671 (GRCm39) |
makesense |
probably null |
|
R5468:Adam12
|
UTSW |
7 |
133,577,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5486:Adam12
|
UTSW |
7 |
133,509,401 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5990:Adam12
|
UTSW |
7 |
133,533,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R6504:Adam12
|
UTSW |
7 |
133,531,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Adam12
|
UTSW |
7 |
133,576,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Adam12
|
UTSW |
7 |
133,518,191 (GRCm39) |
missense |
probably benign |
0.00 |
R7263:Adam12
|
UTSW |
7 |
133,521,240 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7749:Adam12
|
UTSW |
7 |
133,826,542 (GRCm39) |
missense |
unknown |
|
R7820:Adam12
|
UTSW |
7 |
133,599,917 (GRCm39) |
missense |
probably benign |
0.00 |
R7880:Adam12
|
UTSW |
7 |
133,511,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7891:Adam12
|
UTSW |
7 |
133,599,961 (GRCm39) |
missense |
probably benign |
0.00 |
R8114:Adam12
|
UTSW |
7 |
133,569,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R8160:Adam12
|
UTSW |
7 |
133,569,770 (GRCm39) |
splice site |
probably null |
|
R8683:Adam12
|
UTSW |
7 |
133,491,929 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9236:Adam12
|
UTSW |
7 |
133,614,022 (GRCm39) |
missense |
probably benign |
0.03 |
R9277:Adam12
|
UTSW |
7 |
133,521,561 (GRCm39) |
missense |
probably benign |
0.00 |
R9480:Adam12
|
UTSW |
7 |
133,736,470 (GRCm39) |
missense |
probably damaging |
0.98 |
R9515:Adam12
|
UTSW |
7 |
133,509,373 (GRCm39) |
missense |
probably benign |
0.03 |
R9599:Adam12
|
UTSW |
7 |
133,566,454 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Adam12
|
UTSW |
7 |
133,614,044 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACAGACTCGTGCGCATAAAG -3'
(R):5'- CATCAGAGGGGATGGCTTTG -3'
Sequencing Primer
(F):5'- GTGCGCATAAAGCATCCTTC -3'
(R):5'- GGATGGCTTTGAAATCCCCAC -3'
|
Posted On |
2015-04-30 |