Incidental Mutation 'R9480:Adam12'
| ID |
716189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam12
|
| Ensembl Gene |
ENSMUSG00000054555 |
| Gene Name |
ADAM metallopeptidase domain 12 |
| Synonyms |
Mltna, ADAM12 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R9480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133736470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 81
(I81F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000127524]
[ENSMUST00000134504]
|
| AlphaFold |
Q61824 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067680
AA Change: I81F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: I81F
| 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: ENSMUST00000127524
AA Change: I50F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120094
Gene: ENSMUSG00000054555
AA Change: I50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
4.3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134504
AA Change: I50F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123161
Gene: ENSMUSG00000054555
AA Change: I50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
6 |
135 |
6.1e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
| Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
| Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
| Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
| Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
| Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
| Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,622 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
| Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
| Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
| Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
| Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
| Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
| Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
| Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
| Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
| Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,699,835 (GRCm39) |
V771A |
unknown |
Het |
| Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
| Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
| Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
| Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
| Siglecf |
G |
T |
7: 43,001,666 (GRCm39) |
V159L |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
| Sytl2 |
C |
T |
7: 90,020,718 (GRCm39) |
T147M |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
| Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
| Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
| Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
| Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
| Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
| Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
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'- ACGCCATTTCCCCTGAGAAG -3'
(R):5'- AGCCACATAAGAGCCAGGTG -3'
Sequencing Primer
(F):5'- GAAACCCAGTGTACTATTTTCTGGG -3'
(R):5'- CACTCTGGTCTTCAGTACTTGGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation