Incidental Mutation 'R9000:Adam5'
ID |
684915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
068831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R9000 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 25294372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052661
(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 benign
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 |
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
90% (55/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,353,195 (GRCm39) |
N749S |
probably damaging |
Het |
Acsl5 |
T |
C |
19: 55,283,943 (GRCm39) |
*684Q |
probably null |
Het |
Actr5 |
A |
T |
2: 158,478,610 (GRCm39) |
T487S |
probably benign |
Het |
Adam18 |
T |
A |
8: 25,127,162 (GRCm39) |
H478L |
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,854,570 (GRCm39) |
N475S |
probably benign |
Het |
Akap9 |
G |
A |
5: 4,105,650 (GRCm39) |
R2907H |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,476,628 (GRCm39) |
V1330A |
probably damaging |
Het |
Arhgef37 |
A |
T |
18: 61,637,333 (GRCm39) |
M443K |
possibly damaging |
Het |
Atp13a1 |
T |
A |
8: 70,254,725 (GRCm39) |
H753Q |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,065,281 (GRCm39) |
H311R |
|
Het |
Cdh23 |
A |
G |
10: 60,140,277 (GRCm39) |
Y3222H |
possibly damaging |
Het |
Ces2f |
A |
G |
8: 105,677,661 (GRCm39) |
D222G |
probably benign |
Het |
Cnot9 |
C |
T |
1: 74,561,544 (GRCm39) |
R130C |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 46,461,139 (GRCm39) |
|
probably benign |
Het |
Daam2 |
A |
G |
17: 49,769,197 (GRCm39) |
L932P |
probably damaging |
Het |
Dgki |
T |
C |
6: 37,074,643 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,606,397 (GRCm39) |
Q2489P |
probably benign |
Het |
Elovl2 |
A |
G |
13: 41,338,810 (GRCm39) |
L280S |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,497,587 (GRCm39) |
Y4357* |
probably null |
Het |
Fat3 |
T |
A |
9: 15,871,816 (GRCm39) |
Q3525L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,918,095 (GRCm39) |
I1443V |
probably benign |
Het |
Fzd1 |
A |
G |
5: 4,806,211 (GRCm39) |
I457T |
probably damaging |
Het |
Kcnq5 |
G |
T |
1: 21,557,483 (GRCm39) |
F332L |
probably damaging |
Het |
Meiob |
A |
G |
17: 25,047,916 (GRCm39) |
|
probably benign |
Het |
Mrgprb4 |
A |
G |
7: 47,848,769 (GRCm39) |
L53P |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,901,740 (GRCm39) |
V832I |
unknown |
Het |
Nckap5l |
G |
A |
15: 99,321,310 (GRCm39) |
P1186S |
probably damaging |
Het |
Ndufa4l2 |
A |
T |
10: 127,350,898 (GRCm39) |
R16S |
probably benign |
Het |
Nrg2 |
T |
C |
18: 36,151,682 (GRCm39) |
Y620C |
probably damaging |
Het |
Or4p4b-ps1 |
T |
A |
2: 88,454,525 (GRCm39) |
*293R |
probably null |
Het |
Or52a24 |
T |
C |
7: 103,381,672 (GRCm39) |
S180P |
probably damaging |
Het |
Pip4k2a |
T |
G |
2: 18,877,240 (GRCm39) |
Y165S |
possibly damaging |
Het |
Plcd4 |
T |
A |
1: 74,601,024 (GRCm39) |
C500* |
probably null |
Het |
Plcl1 |
C |
T |
1: 55,736,990 (GRCm39) |
P777L |
probably damaging |
Het |
Pnliprp2 |
T |
C |
19: 58,762,555 (GRCm39) |
Y387H |
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,595,470 (GRCm39) |
D1119E |
probably benign |
Het |
Prss51 |
T |
C |
14: 64,332,420 (GRCm39) |
S36P |
possibly damaging |
Het |
Prune1 |
A |
G |
3: 95,162,635 (GRCm39) |
V346A |
probably benign |
Het |
Saxo5 |
T |
C |
8: 3,526,083 (GRCm39) |
S79P |
possibly damaging |
Het |
Scn5a |
T |
C |
9: 119,321,171 (GRCm39) |
T1464A |
possibly damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
GGGG |
GGGGCCCAGCTCAGCCACAGGG |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
Sim1 |
T |
G |
10: 50,860,316 (GRCm39) |
I726S |
probably benign |
Het |
Sim1 |
T |
G |
10: 50,860,317 (GRCm39) |
I726M |
possibly damaging |
Het |
Slc38a4 |
G |
A |
15: 96,897,475 (GRCm39) |
P447S |
possibly damaging |
Het |
Slc5a12 |
A |
G |
2: 110,454,525 (GRCm39) |
E362G |
probably damaging |
Het |
Slc5a8 |
C |
A |
10: 88,762,089 (GRCm39) |
N576K |
probably benign |
Het |
Slc5a8 |
T |
A |
10: 88,762,090 (GRCm39) |
Y577N |
probably benign |
Het |
Snn |
A |
G |
16: 10,890,322 (GRCm39) |
E47G |
probably damaging |
Het |
Snx19 |
T |
C |
9: 30,375,619 (GRCm39) |
V207A |
unknown |
Het |
Srcap |
G |
A |
7: 127,130,943 (GRCm39) |
V720I |
possibly damaging |
Het |
Syn3 |
T |
A |
10: 85,893,489 (GRCm39) |
R451S |
unknown |
Het |
Tdrp |
A |
G |
8: 14,003,989 (GRCm39) |
V116A |
probably benign |
Het |
Tef |
G |
A |
15: 81,695,773 (GRCm39) |
M1I |
probably null |
Het |
Vmn1r232 |
T |
C |
17: 21,134,111 (GRCm39) |
K163R |
probably damaging |
Het |
Wrnip1 |
A |
G |
13: 32,986,711 (GRCm39) |
E164G |
probably damaging |
Het |
Zcchc14 |
T |
G |
8: 122,336,880 (GRCm39) |
H178P |
unknown |
Het |
Zfp37 |
T |
G |
4: 62,126,651 (GRCm39) |
K69T |
unknown |
Het |
Zfp947 |
A |
G |
17: 22,365,161 (GRCm39) |
L171P |
probably benign |
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 |
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 |
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'- AGAAGCTCTGTGTCTCTCGC -3'
(R):5'- AGCAGCTTTGATCATGTACACATTG -3'
Sequencing Primer
(F):5'- CGCCTGTTCCAGAAGCTGTTAG -3'
(R):5'- CTAGATATTCTGGGGGTGTGAAGGAC -3'
|
Posted On |
2021-10-11 |