Incidental Mutation 'R4900:Adam5'
| ID |
376089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
042504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4900 (G1)
|
| Quality Score |
217 |
|
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: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (84/84) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,397,349 (GRCm39) |
E93G |
possibly damaging |
Het |
| Adgrb2 |
T |
A |
4: 129,907,668 (GRCm39) |
Y1001N |
probably damaging |
Het |
| Aox1 |
T |
G |
1: 58,344,544 (GRCm39) |
S546A |
probably benign |
Het |
| Asic2 |
T |
C |
11: 81,464,280 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,955,957 (GRCm39) |
N64I |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,350,177 (GRCm39) |
F556S |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
| Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
| Cdh11 |
C |
T |
8: 103,374,090 (GRCm39) |
|
probably null |
Het |
| Ces2g |
C |
T |
8: 105,693,989 (GRCm39) |
Q442* |
probably null |
Het |
| Cps1 |
A |
T |
1: 67,200,063 (GRCm39) |
T404S |
probably damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,170,174 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,346,318 (GRCm39) |
Y1526C |
probably benign |
Het |
| Cyp2a12 |
C |
T |
7: 26,730,640 (GRCm39) |
Q202* |
probably null |
Het |
| Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,280 (GRCm39) |
T257I |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,965,949 (GRCm39) |
L2427Q |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
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 |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,829,756 (GRCm39) |
V255D |
probably damaging |
Het |
| Galc |
G |
T |
12: 98,197,731 (GRCm39) |
T326K |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,291,561 (GRCm39) |
Y808N |
probably benign |
Het |
| Glis1 |
C |
T |
4: 107,476,761 (GRCm39) |
A306V |
probably damaging |
Het |
| Gm10638 |
A |
G |
8: 87,473,028 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
| Gm27048 |
C |
T |
8: 81,661,228 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4204 |
T |
C |
1: 135,160,556 (GRCm39) |
|
noncoding transcript |
Het |
| Gm904 |
A |
T |
13: 50,799,325 (GRCm39) |
I95F |
possibly damaging |
Het |
| Gvin3 |
T |
G |
7: 106,197,793 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ints11 |
G |
A |
4: 155,972,887 (GRCm39) |
D526N |
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 |
| Kcnj8 |
A |
G |
6: 142,512,221 (GRCm39) |
S129P |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,867,259 (GRCm39) |
S795P |
probably damaging |
Het |
| Lhx8 |
G |
T |
3: 154,035,925 (GRCm39) |
A22E |
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,664,006 (GRCm39) |
|
probably benign |
Het |
| Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,014,479 (GRCm39) |
S526P |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Mroh8 |
T |
C |
2: 157,070,647 (GRCm39) |
E568G |
probably benign |
Het |
| Ms4a4b |
C |
A |
19: 11,440,503 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,303,280 (GRCm39) |
F99S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,180,825 (GRCm39) |
I738N |
probably damaging |
Het |
| Naip6 |
A |
C |
13: 100,433,477 (GRCm39) |
V1120G |
probably damaging |
Het |
| Ncl |
T |
C |
1: 86,283,901 (GRCm39) |
T307A |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,363,272 (GRCm39) |
D869E |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,013,231 (GRCm39) |
T36A |
probably benign |
Het |
| Olfml2b |
C |
A |
1: 170,489,947 (GRCm39) |
T189N |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,312 (GRCm39) |
N208S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,608 (GRCm39) |
F165L |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,427 (GRCm39) |
W458G |
probably damaging |
Het |
| Pdzrn4 |
G |
T |
15: 92,668,638 (GRCm39) |
R930L |
probably damaging |
Het |
| Pgam5 |
G |
A |
5: 110,408,301 (GRCm39) |
A240V |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,220,129 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
G |
4: 131,515,693 (GRCm39) |
E897A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,981,670 (GRCm39) |
N1256K |
probably benign |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,439 (GRCm39) |
E64G |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,289,184 (GRCm39) |
L879Q |
probably damaging |
Het |
| Siah1a |
G |
T |
8: 87,451,703 (GRCm39) |
D260E |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,924,667 (GRCm39) |
I522V |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Smok3c |
T |
C |
5: 138,062,813 (GRCm39) |
I100T |
probably damaging |
Het |
| Snx24 |
C |
A |
18: 53,518,295 (GRCm39) |
Y141* |
probably null |
Het |
| Tigit |
A |
G |
16: 43,469,594 (GRCm39) |
S166P |
probably damaging |
Het |
| Tmem183a |
C |
T |
1: 134,275,904 (GRCm39) |
R324Q |
probably benign |
Het |
| Tmie |
T |
C |
9: 110,696,001 (GRCm39) |
D130G |
possibly damaging |
Het |
| Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,637 (GRCm39) |
N620S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,240,852 (GRCm39) |
N87I |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,404,605 (GRCm39) |
D583G |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,821,819 (GRCm39) |
D60G |
possibly 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 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- GCACATGTTCACAGTGGAAAATGAC -3'
Sequencing Primer
(F):5'- CCTAGGGATGGTTCCTCTACAACAG -3'
(R):5'- CATGTCATGTGTACGAGACATGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation