Incidental Mutation 'R0398:Adam5'
| ID |
32128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
038603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25303448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 160
(Y160H)
|
| 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: Y160H
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: Y160H
| 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: Y160H
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: Y160H
| 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: Y77H
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: Y77H
| 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: Y160H
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 83.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,117,010 (GRCm39) |
Q546R |
probably null |
Het |
| Acr |
T |
G |
15: 89,458,144 (GRCm39) |
V275G |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 35,089,438 (GRCm39) |
M545K |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,379 (GRCm39) |
E154G |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,296,608 (GRCm39) |
L338R |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,590 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,644,866 (GRCm39) |
S436P |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,070,355 (GRCm39) |
Y16H |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,091 (GRCm39) |
F90Y |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,836,216 (GRCm39) |
Q411K |
probably benign |
Het |
| Cdca2 |
A |
C |
14: 67,935,411 (GRCm39) |
F435V |
probably damaging |
Het |
| Cdh13 |
T |
G |
8: 120,040,786 (GRCm39) |
S664A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,073,702 (GRCm39) |
V438E |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,266,032 (GRCm39) |
D40G |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,952 (GRCm39) |
H840R |
unknown |
Het |
| Cpa1 |
A |
G |
6: 30,645,250 (GRCm39) |
T409A |
probably benign |
Het |
| Crlf1 |
G |
A |
8: 70,951,739 (GRCm39) |
|
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,907,855 (GRCm39) |
I184N |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,886 (GRCm39) |
D596G |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,495,367 (GRCm39) |
R724G |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,517,267 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,671,487 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,515,928 (GRCm39) |
V626A |
probably benign |
Het |
| Gart |
G |
T |
16: 91,436,337 (GRCm39) |
A140E |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,251,274 (GRCm39) |
S477P |
possibly damaging |
Het |
| Gm16380 |
T |
C |
9: 53,791,453 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
C |
A |
1: 150,674,565 (GRCm39) |
R579M |
possibly damaging |
Het |
| Hoxb8 |
A |
C |
11: 96,173,937 (GRCm39) |
H50P |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,163,706 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
G |
A |
3: 40,711,429 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,756,670 (GRCm39) |
Y296F |
probably damaging |
Het |
| Igsf8 |
C |
A |
1: 172,145,066 (GRCm39) |
T131K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,415,373 (GRCm39) |
P298L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,259,788 (GRCm39) |
I229N |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,288,688 (GRCm39) |
D1205G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,910 (GRCm39) |
R74G |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,013,760 (GRCm39) |
T481A |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,244,810 (GRCm39) |
T7312S |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,030,299 (GRCm39) |
Q1068* |
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,941,302 (GRCm39) |
Y203C |
probably damaging |
Het |
| Nek2 |
T |
A |
1: 191,559,473 (GRCm39) |
I326N |
probably benign |
Het |
| Nlrc4 |
A |
C |
17: 74,752,915 (GRCm39) |
N489K |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,732 (GRCm39) |
S304R |
possibly damaging |
Het |
| Ogfr |
C |
G |
2: 180,235,492 (GRCm39) |
R189G |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,899 (GRCm39) |
L252H |
probably damaging |
Het |
| Or5p78 |
T |
A |
7: 108,212,162 (GRCm39) |
I216N |
probably benign |
Het |
| Or5w8 |
A |
T |
2: 87,688,401 (GRCm39) |
N294I |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,885 (GRCm39) |
S145G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,716 (GRCm39) |
E3406G |
unknown |
Het |
| Pcx |
T |
G |
19: 4,651,638 (GRCm39) |
F4C |
probably benign |
Het |
| Pgd |
C |
A |
4: 149,238,339 (GRCm39) |
G364V |
probably damaging |
Het |
| Pla2g12a |
C |
A |
3: 129,684,045 (GRCm39) |
D102E |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,833,253 (GRCm39) |
C82* |
probably null |
Het |
| Prdm1 |
T |
C |
10: 44,315,805 (GRCm39) |
N792S |
probably damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,757 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,094 (GRCm39) |
P242Q |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,370 (GRCm39) |
N129S |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,150 (GRCm39) |
T231A |
possibly damaging |
Het |
| Qrfpr |
C |
T |
3: 36,235,201 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,364,344 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,526,508 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,385 (GRCm39) |
E25G |
probably damaging |
Het |
| Rpl8 |
G |
C |
15: 76,789,246 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
G |
A |
15: 53,583,116 (GRCm39) |
P73S |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,502 (GRCm39) |
N920Y |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,476 (GRCm39) |
V607A |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,508,401 (GRCm39) |
Y196H |
probably damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,869,621 (GRCm39) |
M12K |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,018,556 (GRCm39) |
I501T |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,262,408 (GRCm39) |
V546D |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,313,727 (GRCm39) |
V511M |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,526,788 (GRCm39) |
V1015G |
probably benign |
Het |
| Thoc5 |
G |
T |
11: 4,871,978 (GRCm39) |
V516F |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,628 (GRCm39) |
I570N |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,524,770 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Yipf3 |
A |
G |
17: 46,562,411 (GRCm39) |
E298G |
possibly damaging |
Het |
| Zbtb34 |
C |
A |
2: 33,301,060 (GRCm39) |
E494* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,677,878 (GRCm39) |
Y2976C |
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 |
|
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'- GTGTCCAATTTCAACTGTCAATCCACG -3'
(R):5'- TTCCTATAACTGTCCGACCACCCAGG -3'
Sequencing Primer
(F):5'- tgggagacagaggcagg -3'
(R):5'- CCCAGGGGAATCATACAGTTTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation