Incidental Mutation 'R4866:Adam5'
| ID |
374914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
042476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 25232172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
| AlphaFold |
Q3TTE0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050300
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
|
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
|
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
|
ACR
|
475 |
618 |
6.9e-58 |
SMART |
|
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118419
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
16 |
142 |
4.7e-30 |
PFAM |
|
Pfam:Reprolysin
|
185 |
378 |
7.9e-56 |
PFAM |
|
DISIN
|
397 |
474 |
1.78e-39 |
SMART |
|
ACR
|
475 |
618 |
2.06e-55 |
SMART |
|
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132180
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
|
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
|
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
|
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209935
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (79/80) |
| 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. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,241,182 (GRCm39) |
M1K |
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Apoa2 |
T |
C |
1: 171,053,369 (GRCm39) |
|
probably null |
Het |
| Atad1 |
A |
T |
19: 32,679,964 (GRCm39) |
H79Q |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 59,928,916 (GRCm39) |
D1046G |
probably damaging |
Het |
| Bcam |
A |
G |
7: 19,499,397 (GRCm39) |
Y209H |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,299,431 (GRCm39) |
V1120I |
probably damaging |
Het |
| Catsperb |
G |
A |
12: 101,474,208 (GRCm39) |
C302Y |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,310,549 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
| Cdan1 |
C |
A |
2: 120,561,928 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfap410 |
T |
A |
10: 77,817,413 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,964,716 (GRCm39) |
D479G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cog6 |
G |
A |
3: 52,918,019 (GRCm39) |
T173I |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,350,090 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,933,380 (GRCm39) |
V413M |
probably damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
| Dclre1b |
A |
T |
3: 103,715,412 (GRCm39) |
Y29N |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,221,764 (GRCm39) |
I236K |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,380,198 (GRCm39) |
Y833N |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,120,603 (GRCm39) |
E32G |
possibly damaging |
Het |
| Entrep1 |
A |
G |
19: 23,952,790 (GRCm39) |
S507P |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,951,049 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,170,773 (GRCm39) |
C4S |
possibly damaging |
Het |
| Galnt16 |
T |
C |
12: 80,630,851 (GRCm39) |
Y310H |
probably damaging |
Het |
| Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,040,529 (GRCm39) |
R593H |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,279,403 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Igha |
A |
G |
12: 113,223,129 (GRCm39) |
V166A |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,279 (GRCm39) |
|
probably benign |
Het |
| Jund |
T |
C |
8: 71,152,254 (GRCm39) |
V183A |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,132 (GRCm39) |
S471P |
possibly damaging |
Het |
| Kazn |
A |
G |
4: 141,832,216 (GRCm39) |
F661S |
unknown |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,288,590 (GRCm39) |
V661I |
probably benign |
Het |
| Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,111,391 (GRCm39) |
D351G |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Mios |
T |
G |
6: 8,214,857 (GRCm39) |
F18V |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,565,285 (GRCm39) |
D575G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,508,190 (GRCm39) |
V439M |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,453 (GRCm39) |
D590G |
probably benign |
Het |
| Ndufs2 |
C |
T |
1: 171,074,618 (GRCm39) |
G14R |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,125,371 (GRCm39) |
I52F |
probably damaging |
Het |
| Or51a7 |
A |
T |
7: 102,614,927 (GRCm39) |
M207L |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,514 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,367 (GRCm39) |
K298E |
probably damaging |
Het |
| Plau |
G |
T |
14: 20,887,872 (GRCm39) |
V39L |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,911 (GRCm39) |
C275R |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,566,706 (GRCm39) |
M51R |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,626,105 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,159 (GRCm39) |
D1023G |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,703,816 (GRCm39) |
V129E |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,885,347 (GRCm39) |
E249G |
probably benign |
Het |
| Sart1 |
A |
C |
19: 5,432,248 (GRCm39) |
L577W |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,964,729 (GRCm39) |
E189G |
possibly damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,316 (GRCm39) |
C50F |
probably damaging |
Het |
| Spem1 |
A |
T |
11: 69,711,755 (GRCm39) |
V303E |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,124,588 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttl |
T |
C |
2: 128,923,147 (GRCm39) |
S163P |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,920 (GRCm39) |
N429K |
probably benign |
Het |
| Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,302,993 (GRCm39) |
S1664P |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,682,012 (GRCm39) |
D70E |
possibly damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,607 (GRCm39) |
V1262E |
probably damaging |
Het |
| Zfp595 |
C |
A |
13: 67,465,760 (GRCm39) |
G168C |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,995,095 (GRCm39) |
S354T |
probably damaging |
Het |
|
| Other mutations in Adam5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Adam5
|
APN |
8 |
25,308,758 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01285:Adam5
|
APN |
8 |
25,271,610 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01310:Adam5
|
APN |
8 |
25,232,150 (GRCm39) |
intron |
probably benign |
|
|
IGL01510:Adam5
|
APN |
8 |
25,294,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01570:Adam5
|
APN |
8 |
25,300,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Adam5
|
APN |
8 |
25,271,775 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02191:Adam5
|
APN |
8 |
25,302,439 (GRCm39) |
nonsense |
probably null |
|
|
IGL02397:Adam5
|
APN |
8 |
25,234,149 (GRCm39) |
intron |
probably benign |
|
|
IGL02488:Adam5
|
APN |
8 |
25,282,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02490:Adam5
|
APN |
8 |
25,271,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL02499:Adam5
|
APN |
8 |
25,271,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02539:Adam5
|
APN |
8 |
25,276,229 (GRCm39) |
nonsense |
probably null |
|
|
IGL02590:Adam5
|
APN |
8 |
25,234,151 (GRCm39) |
intron |
probably benign |
|
|
IGL02677:Adam5
|
APN |
8 |
25,302,395 (GRCm39) |
splice site |
probably benign |
|
|
IGL02679:Adam5
|
APN |
8 |
25,296,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Adam5
|
APN |
8 |
25,294,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03146:Adam5
|
APN |
8 |
25,294,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03162:Adam5
|
APN |
8 |
25,271,620 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03284:Adam5
|
APN |
8 |
25,276,354 (GRCm39) |
splice site |
probably benign |
|
|
R0081:Adam5
|
UTSW |
8 |
25,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Adam5
|
UTSW |
8 |
25,237,557 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0398:Adam5
|
UTSW |
8 |
25,303,448 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0771:Adam5
|
UTSW |
8 |
25,276,315 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0925:Adam5
|
UTSW |
8 |
25,302,441 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1547:Adam5
|
UTSW |
8 |
25,300,729 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1985:Adam5
|
UTSW |
8 |
25,236,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2115:Adam5
|
UTSW |
8 |
25,234,161 (GRCm39) |
intron |
probably benign |
|
|
R2125:Adam5
|
UTSW |
8 |
25,305,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Adam5
|
UTSW |
8 |
25,305,496 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3151:Adam5
|
UTSW |
8 |
25,271,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3612:Adam5
|
UTSW |
8 |
25,308,105 (GRCm39) |
splice site |
probably benign |
|
|
R3844:Adam5
|
UTSW |
8 |
25,303,426 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3873:Adam5
|
UTSW |
8 |
25,305,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4514:Adam5
|
UTSW |
8 |
25,308,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Adam5
|
UTSW |
8 |
25,303,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4900:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
|
R4903:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Adam5
|
UTSW |
8 |
25,276,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Adam5
|
UTSW |
8 |
25,300,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5293:Adam5
|
UTSW |
8 |
25,300,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5724:Adam5
|
UTSW |
8 |
25,294,511 (GRCm39) |
nonsense |
probably null |
|
|
R5859:Adam5
|
UTSW |
8 |
25,303,477 (GRCm39) |
missense |
probably benign |
|
|
R6004:Adam5
|
UTSW |
8 |
25,271,685 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6175:Adam5
|
UTSW |
8 |
25,276,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Adam5
|
UTSW |
8 |
25,272,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6994:Adam5
|
UTSW |
8 |
25,276,262 (GRCm39) |
nonsense |
probably null |
|
|
R6996:Adam5
|
UTSW |
8 |
25,296,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Adam5
|
UTSW |
8 |
25,296,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7115:Adam5
|
UTSW |
8 |
25,271,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7127:Adam5
|
UTSW |
8 |
25,300,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Adam5
|
UTSW |
8 |
25,305,541 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7780:Adam5
|
UTSW |
8 |
25,294,432 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8027:Adam5
|
UTSW |
8 |
25,272,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Adam5
|
UTSW |
8 |
25,303,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Adam5
|
UTSW |
8 |
25,271,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Adam5
|
UTSW |
8 |
25,300,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8359:Adam5
|
UTSW |
8 |
25,296,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Adam5
|
UTSW |
8 |
25,294,475 (GRCm39) |
nonsense |
probably null |
|
|
R8743:Adam5
|
UTSW |
8 |
25,276,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Adam5
|
UTSW |
8 |
25,294,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9442:Adam5
|
UTSW |
8 |
25,296,510 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9474:Adam5
|
UTSW |
8 |
25,237,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9602:Adam5
|
UTSW |
8 |
25,303,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9748:Adam5
|
UTSW |
8 |
25,301,068 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0019:Adam5
|
UTSW |
8 |
25,302,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Adam5
|
UTSW |
8 |
25,303,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0027:Adam5
|
UTSW |
8 |
25,308,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTAGCCACTTAGCCAGCG -3'
(R):5'- GTTCACAGTGGAAAATGACATGTC -3'
Sequencing Primer
(F):5'- CCTAGGGATGGTTCCTCTACAACAG -3'
(R):5'- CATGTCATGTGTACGAGACATGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation