Incidental Mutation 'R1483:Adam12'
| ID |
165701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam12
|
| Ensembl Gene |
ENSMUSG00000054555 |
| Gene Name |
ADAM metallopeptidase domain 12 |
| Synonyms |
Mltna, ADAM12 |
| MMRRC Submission |
039536-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R1483 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133531754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 494
(T494S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000138363]
|
| AlphaFold |
Q61824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067680
AA Change: T494S
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: T494S
| 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: ENSMUST00000138363
AA Change: T172S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: T172S
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 52,842,870 (GRCm39) |
P73S |
probably damaging |
Het |
| Amotl2 |
A |
T |
9: 102,608,096 (GRCm39) |
T763S |
probably benign |
Het |
| Brd10 |
G |
A |
19: 29,696,745 (GRCm39) |
P916L |
possibly damaging |
Het |
| Cdc5l |
A |
T |
17: 45,719,290 (GRCm39) |
V541D |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,624,248 (GRCm39) |
Y52C |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,931,733 (GRCm39) |
E255G |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,155 (GRCm39) |
S126P |
probably benign |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,279,715 (GRCm39) |
I427V |
probably benign |
Het |
| Drg2 |
T |
C |
11: 60,350,353 (GRCm39) |
I104T |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,292,079 (GRCm39) |
A932V |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,757,164 (GRCm39) |
D880E |
unknown |
Het |
| Elf1 |
T |
A |
14: 79,818,078 (GRCm39) |
D569E |
probably benign |
Het |
| Esp6 |
T |
A |
17: 40,873,816 (GRCm39) |
M1K |
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,509,819 (GRCm39) |
V1427A |
possibly damaging |
Het |
| Gsta1 |
A |
T |
9: 78,149,775 (GRCm39) |
K196M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,169 (GRCm39) |
I110F |
probably damaging |
Het |
| H2-DMa |
T |
A |
17: 34,354,724 (GRCm39) |
V27E |
possibly damaging |
Het |
| H2-T10 |
A |
T |
17: 36,432,038 (GRCm39) |
S2T |
probably benign |
Het |
| Hadhb |
A |
G |
5: 30,374,492 (GRCm39) |
|
probably null |
Het |
| Hoxa11 |
G |
T |
6: 52,220,436 (GRCm39) |
D282E |
probably damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,041 (GRCm39) |
Y139H |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,049,436 (GRCm39) |
V88A |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,452,273 (GRCm39) |
A149T |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,404,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,738,934 (GRCm39) |
I284N |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,308,937 (GRCm39) |
I98K |
probably damaging |
Het |
| Mst1 |
G |
T |
9: 107,958,849 (GRCm39) |
G127V |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,552,217 (GRCm39) |
S325P |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,910,211 (GRCm39) |
P1328L |
probably benign |
Het |
| Nek5 |
C |
T |
8: 22,586,806 (GRCm39) |
S335N |
probably benign |
Het |
| Nif3l1 |
C |
A |
1: 58,486,885 (GRCm39) |
R24S |
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,789,329 (GRCm39) |
N39K |
possibly damaging |
Het |
| Nup50 |
T |
A |
15: 84,823,928 (GRCm39) |
V427D |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,383,714 (GRCm39) |
P78L |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,114 (GRCm39) |
Y61* |
probably null |
Het |
| Pate8 |
G |
A |
9: 36,492,620 (GRCm39) |
S95L |
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,388,550 (GRCm39) |
Y242C |
probably benign |
Het |
| Ppm1g |
T |
C |
5: 31,360,465 (GRCm39) |
D423G |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,547,071 (GRCm39) |
Q116L |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,097,941 (GRCm39) |
N464Y |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,093,161 (GRCm39) |
V494M |
possibly damaging |
Het |
| Rapgef4 |
T |
G |
2: 71,885,370 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,160,099 (GRCm39) |
E318G |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,271,667 (GRCm39) |
D215G |
probably benign |
Het |
| Rp1l1 |
C |
T |
14: 64,266,496 (GRCm39) |
T694I |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 75,929,771 (GRCm39) |
L1032P |
probably damaging |
Het |
| Sectm1b |
G |
A |
11: 120,946,652 (GRCm39) |
T81M |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,942,518 (GRCm39) |
F97L |
possibly damaging |
Het |
| Socs3 |
A |
T |
11: 117,858,394 (GRCm39) |
Y221* |
probably null |
Het |
| Spata31d1e |
A |
T |
13: 59,890,717 (GRCm39) |
S368T |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,498 (GRCm39) |
H850L |
probably benign |
Het |
| Tex44 |
G |
T |
1: 86,354,908 (GRCm39) |
Q272H |
probably damaging |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,625 (GRCm39) |
S426A |
probably benign |
Het |
| Tmem39b |
T |
C |
4: 129,570,456 (GRCm39) |
Y461C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,337 (GRCm39) |
D30556V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,455 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,375 (GRCm39) |
I701V |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,154,129 (GRCm39) |
L622Q |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,822,923 (GRCm39) |
H1347L |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,234,863 (GRCm39) |
I540V |
probably benign |
Het |
| Xylt2 |
A |
C |
11: 94,560,393 (GRCm39) |
M294R |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,298,499 (GRCm39) |
Y326* |
probably null |
Het |
| Zim1 |
A |
G |
7: 6,685,124 (GRCm39) |
F109L |
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 |
|
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 |
|
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'- TGGGCACTCAAGGATGAATCCTCC -3'
(R):5'- TGAAATCCCCACCTGTTTGTGTGAC -3'
Sequencing Primer
(F):5'- GGATGAATCCTCCTCCAAGG -3'
(R):5'- AGGGTGCTTCCTTCTACTTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation