Incidental Mutation 'R0377:Adam5'
ID |
30807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
038583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R0377 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25237557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 618
(T618A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
AlphaFold |
Q3TTE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050300
AA Change: T618A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: T618A
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
AA Change: T618A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: T618A
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 |
unknown
Transcript: ENSMUST00000132180
AA Change: T535A
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: T535A
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
AA Change: T618A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
Validation Efficiency |
97% (67/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
A |
11: 94,265,922 (GRCm39) |
V107F |
possibly damaging |
Het |
Acad11 |
T |
A |
9: 103,958,891 (GRCm39) |
|
probably benign |
Het |
Ache |
G |
A |
5: 137,289,190 (GRCm39) |
E299K |
possibly damaging |
Het |
Amigo2 |
T |
A |
15: 97,144,261 (GRCm39) |
T54S |
possibly damaging |
Het |
Anapc1 |
A |
G |
2: 128,483,260 (GRCm39) |
|
probably null |
Het |
Btaf1 |
A |
G |
19: 36,966,402 (GRCm39) |
K1057E |
probably benign |
Het |
Cep55 |
T |
A |
19: 38,060,337 (GRCm39) |
L396* |
probably null |
Het |
Cic |
C |
A |
7: 24,985,224 (GRCm39) |
H1157N |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,220,259 (GRCm39) |
T690S |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,761,911 (GRCm39) |
C1319S |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
Dnai4 |
A |
G |
4: 102,905,456 (GRCm39) |
V775A |
probably damaging |
Het |
Dntt |
G |
A |
19: 41,036,066 (GRCm39) |
W369* |
probably null |
Het |
Esp18 |
T |
A |
17: 39,720,835 (GRCm39) |
W27R |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,966,920 (GRCm39) |
|
probably benign |
Het |
Fbxo31 |
G |
A |
8: 122,285,841 (GRCm39) |
|
probably benign |
Het |
Gm13547 |
G |
A |
2: 29,651,803 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
A |
4: 124,940,175 (GRCm39) |
|
probably benign |
Het |
Gpx2 |
G |
A |
12: 76,841,930 (GRCm39) |
Q74* |
probably null |
Het |
Gucy2c |
A |
G |
6: 136,727,915 (GRCm39) |
|
probably null |
Het |
Hoxa5 |
A |
T |
6: 52,179,626 (GRCm39) |
W250R |
probably damaging |
Het |
Izumo4 |
G |
A |
10: 80,538,674 (GRCm39) |
R42H |
probably damaging |
Het |
Kcnj12 |
G |
A |
11: 60,960,222 (GRCm39) |
M71I |
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,273,618 (GRCm39) |
L2333Q |
probably damaging |
Het |
Mak |
T |
C |
13: 41,202,824 (GRCm39) |
E177G |
probably damaging |
Het |
Map3k7 |
T |
A |
4: 31,985,731 (GRCm39) |
I218N |
probably damaging |
Het |
Mark3 |
T |
C |
12: 111,595,463 (GRCm39) |
L393P |
probably damaging |
Het |
Msh4 |
A |
G |
3: 153,602,527 (GRCm39) |
S234P |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,834,320 (GRCm39) |
D367G |
probably benign |
Het |
Mypn |
A |
G |
10: 62,963,401 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
C |
5: 45,851,159 (GRCm39) |
V784A |
probably benign |
Het |
Nutf2 |
T |
A |
8: 106,605,504 (GRCm39) |
V113D |
probably damaging |
Het |
Odad2 |
G |
A |
18: 7,127,415 (GRCm39) |
R933C |
probably benign |
Het |
Opn3 |
T |
C |
1: 175,491,260 (GRCm39) |
M258V |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,383,927 (GRCm39) |
D180E |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,946,760 (GRCm39) |
D211G |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
Plekhd1 |
G |
A |
12: 80,753,210 (GRCm39) |
|
probably benign |
Het |
Pnpla6 |
A |
G |
8: 3,591,501 (GRCm39) |
E1165G |
probably damaging |
Het |
Prkab2 |
T |
A |
3: 97,569,633 (GRCm39) |
D66E |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Ptpn23 |
A |
T |
9: 110,217,200 (GRCm39) |
S885R |
possibly damaging |
Het |
Rab26 |
A |
T |
17: 24,749,019 (GRCm39) |
|
probably benign |
Het |
Rab5a |
G |
A |
17: 53,807,490 (GRCm39) |
M175I |
probably benign |
Het |
Rassf9 |
T |
A |
10: 102,381,510 (GRCm39) |
D297E |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
Rtp1 |
A |
G |
16: 23,250,034 (GRCm39) |
Y133C |
probably damaging |
Het |
Sdr16c5 |
G |
A |
4: 4,005,546 (GRCm39) |
L263F |
probably benign |
Het |
Sec14l1 |
T |
G |
11: 117,039,966 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spaca1 |
T |
C |
4: 34,044,267 (GRCm39) |
|
probably null |
Het |
Stk36 |
C |
T |
1: 74,651,889 (GRCm39) |
P394L |
probably benign |
Het |
Stk4 |
T |
C |
2: 163,938,720 (GRCm39) |
I196T |
probably damaging |
Het |
Sult1b1 |
A |
T |
5: 87,665,235 (GRCm39) |
M233K |
probably damaging |
Het |
Tmem8b |
C |
T |
4: 43,674,005 (GRCm39) |
T212M |
probably damaging |
Het |
Tmprss11g |
A |
T |
5: 86,638,610 (GRCm39) |
F293I |
probably damaging |
Het |
Tnfsf11 |
T |
G |
14: 78,537,352 (GRCm39) |
T104P |
probably benign |
Het |
Trmt2a |
G |
A |
16: 18,067,567 (GRCm39) |
R80Q |
possibly damaging |
Het |
Trps1 |
C |
A |
15: 50,695,174 (GRCm39) |
E324* |
probably null |
Het |
U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
Wdr18 |
G |
A |
10: 79,803,336 (GRCm39) |
R400H |
probably benign |
Het |
Zfp119b |
T |
A |
17: 56,245,671 (GRCm39) |
H505L |
probably damaging |
Het |
Zfp619 |
T |
A |
7: 39,186,221 (GRCm39) |
C750* |
probably null |
Het |
Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
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 |
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 |
R4866:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
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'- GGCAAGTTCCTTAAGAAGCGAAGGC -3'
(R):5'- GATTTACAATCAGCAGGCACGAAGC -3'
Sequencing Primer
(F):5'- TTAAGAAGCGAAGGCTGGAGTTAC -3'
(R):5'- AGGCACGAAGCTCATTGC -3'
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Posted On |
2013-04-24 |