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 |