Incidental Mutation 'R7891:Adam12'
| ID |
609333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam12
|
| Ensembl Gene |
ENSMUSG00000054555 |
| Gene Name |
ADAM metallopeptidase domain 12 |
| Synonyms |
Mltna, ADAM12 |
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R7891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133599961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 115
(D115E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000127524]
[ENSMUST00000134504]
|
| AlphaFold |
Q61824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067680
AA Change: D115E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: D115E
| 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 benign
Transcript: ENSMUST00000127524
AA Change: D84E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000120094
Gene: ENSMUSG00000054555
AA Change: D84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
4.3e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134504
AA Change: D84E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000123161
Gene: ENSMUSG00000054555
AA Change: D84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
6.1e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 164,920,864 (GRCm39) |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 48,910,543 (GRCm39) |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,054,098 (GRCm39) |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 (GRCm39) |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,681,305 (GRCm39) |
A612V |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,197,513 (GRCm39) |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,600 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,824,139 (GRCm39) |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,717,442 (GRCm39) |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,146 (GRCm39) |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,084,557 (GRCm39) |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,939 (GRCm39) |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,931,263 (GRCm39) |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,609,590 (GRCm39) |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,123,387 (GRCm39) |
N130S |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,306,964 (GRCm39) |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 (GRCm39) |
E136K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,478 (GRCm39) |
S1100G |
probably benign |
Het |
| Gask1b |
G |
A |
3: 79,793,591 (GRCm39) |
A20T |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,132,972 (GRCm39) |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,434 (GRCm39) |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,696 (GRCm39) |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,472,918 (GRCm39) |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,468,940 (GRCm39) |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,235,832 (GRCm39) |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,840,517 (GRCm39) |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,505,109 (GRCm39) |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,220,742 (GRCm39) |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,428,967 (GRCm39) |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,299,192 (GRCm39) |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,299,591 (GRCm39) |
L1309P |
probably benign |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,421 (GRCm39) |
T99S |
possibly damaging |
Het |
| Or13c25 |
C |
T |
4: 52,911,663 (GRCm39) |
V44I |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,289 (GRCm39) |
V121I |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,049,141 (GRCm39) |
M284T |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,848,244 (GRCm39) |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,577,714 (GRCm39) |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,144,297 (GRCm39) |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,552,232 (GRCm39) |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,714,748 (GRCm39) |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,069,434 (GRCm39) |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,334,443 (GRCm39) |
I955M |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,677,935 (GRCm39) |
T97I |
probably benign |
Het |
| Rasef |
T |
C |
4: 73,709,201 (GRCm39) |
T11A |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,588,995 (GRCm39) |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,851,328 (GRCm39) |
A721T |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,139 (GRCm39) |
C1330R |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,349,915 (GRCm39) |
D560G |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,660 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,083 (GRCm39) |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,754,074 (GRCm39) |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,616,510 (GRCm39) |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,280,059 (GRCm39) |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,422 (GRCm39) |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,491,036 (GRCm39) |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,668,003 (GRCm39) |
S63R |
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 |
|
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 |
|
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'- AGCTATACAGGCCTCATCCCTC -3'
(R):5'- CAAGTCACATTGGGGTTAGCG -3'
Sequencing Primer
(F):5'- CCTAGGCTGAGGAACACTTGTACTG -3'
(R):5'- CGTTGAATGGTAAGGCAGCCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation