Incidental Mutation 'R2134:Adam12'
| ID |
233633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam12
|
| Ensembl Gene |
ENSMUSG00000054555 |
| Gene Name |
ADAM metallopeptidase domain 12 |
| Synonyms |
Mltna, ADAM12 |
| MMRRC Submission |
040137-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R2134 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 133614017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 80
(R80*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000127524]
[ENSMUST00000134504]
|
| AlphaFold |
Q61824 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067680
AA Change: R111*
|
| SMART Domains |
Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: R111*
| 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: ENSMUST00000127524
AA Change: R80*
|
| SMART Domains |
Protein: ENSMUSP00000120094
Gene: ENSMUSG00000054555
AA Change: R80*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
4.3e-36 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134504
AA Change: R80*
|
| SMART Domains |
Protein: ENSMUSP00000123161
Gene: ENSMUSG00000054555
AA Change: R80*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
6.1e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,921,743 (GRCm39) |
V1437E |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,133,038 (GRCm39) |
F479L |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,582,485 (GRCm39) |
V1165E |
possibly damaging |
Het |
| Atm |
C |
T |
9: 53,379,264 (GRCm39) |
|
probably null |
Het |
| Atp11c |
A |
G |
X: 59,322,143 (GRCm39) |
Y593H |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,608 (GRCm39) |
D463G |
possibly damaging |
Het |
| Cdc34b |
T |
G |
11: 94,633,252 (GRCm39) |
W151G |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,660 (GRCm39) |
S500P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,839 (GRCm39) |
N998D |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,659,171 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,753,147 (GRCm39) |
Q548R |
probably damaging |
Het |
| Chfr |
T |
A |
5: 110,292,627 (GRCm39) |
|
probably null |
Het |
| Clu |
A |
G |
14: 66,212,290 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
G |
17: 58,714,717 (GRCm39) |
D1235G |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,860 (GRCm39) |
S1205G |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,992,313 (GRCm39) |
E113* |
probably null |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,623,065 (GRCm39) |
N3553K |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,263,760 (GRCm39) |
C730Y |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,298 (GRCm39) |
Y935C |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,510 (GRCm39) |
I681M |
probably benign |
Het |
| Fastk |
T |
C |
5: 24,650,139 (GRCm39) |
R3G |
probably damaging |
Het |
| Fxr1 |
A |
T |
3: 34,112,196 (GRCm39) |
E367D |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,518,677 (GRCm39) |
D261G |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,117 (GRCm39) |
S84P |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,552,285 (GRCm39) |
E104K |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,680,422 (GRCm39) |
K265R |
possibly damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,341,411 (GRCm39) |
D923V |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map1s |
T |
G |
8: 71,366,526 (GRCm39) |
V477G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,708 (GRCm39) |
L542P |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,395 (GRCm39) |
Y562* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,846 (GRCm39) |
D1697V |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,014 (GRCm39) |
F79I |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,228,848 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,605,284 (GRCm39) |
Y6C |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,509 (GRCm39) |
I1808N |
probably damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,800,167 (GRCm39) |
T537S |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,253,924 (GRCm39) |
F415L |
possibly damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,453,499 (GRCm39) |
R976* |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,842 (GRCm39) |
H195R |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
| Sdhaf4 |
T |
A |
1: 24,044,634 (GRCm39) |
R16S |
probably benign |
Het |
| Slc17a1 |
G |
T |
13: 24,059,658 (GRCm39) |
G130* |
probably null |
Het |
| Slc6a1 |
G |
T |
6: 114,278,977 (GRCm39) |
A23S |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,926,704 (GRCm39) |
I541V |
probably damaging |
Het |
| Spock1 |
T |
A |
13: 57,583,952 (GRCm39) |
Q321L |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,271 (GRCm39) |
V53A |
possibly damaging |
Het |
| Thrb |
T |
C |
14: 18,033,487 (GRCm38) |
F403L |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,787 (GRCm39) |
K251R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,792,085 (GRCm39) |
E57G |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,737 (GRCm39) |
Y581F |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,874,909 (GRCm39) |
V1866A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,241,083 (GRCm39) |
F84Y |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,090,992 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp638 |
A |
G |
6: 83,905,964 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,758 (GRCm39) |
H39L |
probably damaging |
Het |
| Zfr2 |
C |
A |
10: 81,078,735 (GRCm39) |
S322R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,771,450 (GRCm39) |
D1644G |
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 |
|
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 |
|
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'- TAACCTCGGTGATCCTCCTG -3'
(R):5'- GCCCTCTAAATTCTCCCTGGAAAC -3'
Sequencing Primer
(F):5'- GGTGATCCTCCTGTCTCAGC -3'
(R):5'- CCTGAATAGGTGAAGCCCTTTGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation