Incidental Mutation 'R5355:Adam12'
ID |
424044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam12
|
Ensembl Gene |
ENSMUSG00000054555 |
Gene Name |
ADAM metallopeptidase domain 12 |
Synonyms |
Mltna, ADAM12 |
MMRRC Submission |
042934-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R5355 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 133489671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 582
(*582W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000138363]
|
AlphaFold |
Q61824 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067680
AA Change: *904W
|
SMART Domains |
Protein: ENSMUSP00000065213 Gene: ENSMUSG00000054555 AA Change: *904W
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 null
Transcript: ENSMUST00000138363
AA Change: *582W
|
SMART Domains |
Protein: ENSMUSP00000114874 Gene: ENSMUSG00000054555 AA Change: *582W
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 |
|
Meta Mutation Damage Score |
0.8516 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
94% (50/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,776,873 (GRCm39) |
L857P |
probably damaging |
Het |
Adra1d |
A |
G |
2: 131,403,007 (GRCm39) |
V361A |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,737,698 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
T |
A |
15: 85,346,515 (GRCm39) |
N424K |
probably damaging |
Het |
C8b |
A |
G |
4: 104,637,860 (GRCm39) |
T111A |
probably benign |
Het |
Ccdc168 |
A |
C |
1: 44,097,139 (GRCm39) |
C1320G |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdr2l |
T |
C |
11: 115,284,396 (GRCm39) |
V244A |
possibly damaging |
Het |
Col11a2 |
A |
G |
17: 34,270,775 (GRCm39) |
M468V |
probably benign |
Het |
Col4a2 |
G |
A |
8: 11,495,984 (GRCm39) |
R1535H |
probably damaging |
Het |
Cryab |
A |
T |
9: 50,664,751 (GRCm39) |
S59C |
probably damaging |
Het |
Cuzd1 |
G |
A |
7: 130,917,853 (GRCm39) |
T249I |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,617,392 (GRCm39) |
V129M |
probably benign |
Het |
Dlg2 |
G |
T |
7: 91,099,011 (GRCm39) |
R31L |
probably benign |
Het |
Dthd1 |
A |
C |
5: 62,996,730 (GRCm39) |
L488F |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Fat2 |
T |
G |
11: 55,172,992 (GRCm39) |
I2574L |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,231,247 (GRCm39) |
D1610G |
probably damaging |
Het |
Gm10330 |
T |
A |
12: 23,830,131 (GRCm39) |
N17Y |
probably damaging |
Het |
Gm4787 |
T |
A |
12: 81,424,239 (GRCm39) |
R640* |
probably null |
Het |
H2bc13 |
A |
T |
13: 21,900,030 (GRCm39) |
I95N |
probably damaging |
Het |
Ift88 |
T |
A |
14: 57,675,699 (GRCm39) |
S71T |
probably benign |
Het |
Isoc2b |
A |
G |
7: 4,852,357 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
G |
T |
10: 77,393,886 (GRCm39) |
R442L |
probably benign |
Het |
Lama5 |
A |
T |
2: 179,823,444 (GRCm39) |
N2658K |
possibly damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,538 (GRCm39) |
I598K |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,285,182 (GRCm39) |
C3825* |
probably null |
Het |
Mep1a |
T |
C |
17: 43,788,037 (GRCm39) |
D673G |
probably damaging |
Het |
Met |
A |
G |
6: 17,491,361 (GRCm39) |
Y41C |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,979,035 (GRCm39) |
V99A |
probably damaging |
Het |
Mmadhc |
A |
G |
2: 50,181,436 (GRCm39) |
I78T |
probably benign |
Het |
Mmp9 |
C |
A |
2: 164,792,912 (GRCm39) |
P389T |
possibly damaging |
Het |
Mvk |
T |
G |
5: 114,590,499 (GRCm39) |
S7A |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,015,077 (GRCm39) |
T58S |
probably benign |
Het |
Nlrp1c-ps |
C |
A |
11: 71,148,839 (GRCm39) |
|
noncoding transcript |
Het |
Nr1h3 |
A |
G |
2: 91,022,253 (GRCm39) |
I125T |
possibly damaging |
Het |
Or2a55-ps1 |
C |
T |
6: 43,071,598 (GRCm39) |
|
noncoding transcript |
Het |
Or8k39 |
A |
T |
2: 86,563,680 (GRCm39) |
I92K |
probably damaging |
Het |
Parn |
A |
G |
16: 13,485,886 (GRCm39) |
I3T |
possibly damaging |
Het |
Parp8 |
A |
G |
13: 116,998,740 (GRCm39) |
|
probably null |
Het |
Parva |
T |
C |
7: 112,143,475 (GRCm39) |
|
probably null |
Het |
Pwp2 |
A |
C |
10: 78,011,378 (GRCm39) |
I672M |
possibly damaging |
Het |
Sfswap |
C |
T |
5: 129,616,810 (GRCm39) |
T418I |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,709,078 (GRCm39) |
Y334C |
probably damaging |
Het |
Slc7a13 |
C |
A |
4: 19,839,267 (GRCm39) |
T290K |
probably benign |
Het |
Spry2 |
A |
G |
14: 106,130,712 (GRCm39) |
L158P |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,847,342 (GRCm39) |
E150G |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,769 (GRCm39) |
F134L |
possibly damaging |
Het |
Zp3r |
A |
G |
1: 130,524,518 (GRCm39) |
F175S |
probably benign |
Het |
Zscan22 |
C |
A |
7: 12,640,435 (GRCm39) |
N67K |
probably benign |
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 |
R4028:Adam12
|
UTSW |
7 |
133,531,725 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTGCGCAGTAATAGACACTCTG -3'
(R):5'- TAAGCTGGGAGACACACCAG -3'
Sequencing Primer
(F):5'- CTTACAAGTTCCTGAGCAAGTAC -3'
(R):5'- ACACCAGTGTGCAGGAGCTG -3'
|
Posted On |
2016-08-04 |