Incidental Mutation 'R7469:Adam5'
| ID |
579039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
045543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25305541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 66
(F66I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
| AlphaFold |
Q3TTE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050300
AA Change: F66I
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: F66I
| 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 |
possibly damaging
Transcript: ENSMUST00000118419
AA Change: F66I
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: F66I
| 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
AA Change: F66I
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Abcc3 |
A |
G |
11: 94,259,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,397,292 (GRCm39) |
V74A |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,981,413 (GRCm39) |
D517E |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,791,349 (GRCm39) |
K559R |
probably damaging |
Het |
| Aldh1l2 |
A |
C |
10: 83,343,969 (GRCm39) |
V482G |
probably damaging |
Het |
| Ankra2 |
C |
T |
13: 98,402,882 (GRCm39) |
A43V |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,508,342 (GRCm39) |
V419F |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,375,763 (GRCm39) |
T77M |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,290 (GRCm39) |
V240A |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,779,027 (GRCm39) |
Y413C |
probably damaging |
Het |
| Bzw2 |
A |
T |
12: 36,157,550 (GRCm39) |
V305E |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,621 (GRCm39) |
A258T |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,696 (GRCm39) |
Y184C |
probably damaging |
Het |
| Chmp3 |
T |
A |
6: 71,556,652 (GRCm39) |
V184E |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Ctdspl2 |
A |
T |
2: 121,837,362 (GRCm39) |
E376D |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,527,468 (GRCm39) |
D200G |
possibly damaging |
Het |
| Cylc2 |
T |
A |
4: 51,227,970 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
T |
A |
19: 39,172,307 (GRCm39) |
F407L |
probably damaging |
Het |
| Dcp2 |
T |
C |
18: 44,529,019 (GRCm39) |
F45L |
probably damaging |
Het |
| Dhx34 |
C |
T |
7: 15,950,364 (GRCm39) |
R268H |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,482,377 (GRCm39) |
M205K |
probably benign |
Het |
| Dzip3 |
C |
T |
16: 48,765,242 (GRCm39) |
V491M |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,512,833 (GRCm39) |
L777P |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,927,863 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
A |
T |
15: 58,462,419 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
T |
C |
3: 85,580,069 (GRCm39) |
D712G |
probably benign |
Het |
| Fitm2 |
A |
G |
2: 163,311,742 (GRCm39) |
F157S |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,540,379 (GRCm39) |
A770E |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,084 (GRCm39) |
E967V |
probably benign |
Het |
| Foxc1 |
G |
C |
13: 31,992,361 (GRCm39) |
A391P |
unknown |
Het |
| Foxc1 |
C |
T |
13: 31,992,362 (GRCm39) |
A391V |
unknown |
Het |
| Gimap6 |
T |
A |
6: 48,679,392 (GRCm39) |
T215S |
probably benign |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Itpr3 |
T |
C |
17: 27,340,028 (GRCm39) |
S2636P |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,380,635 (GRCm39) |
Y601H |
probably benign |
Het |
| Map4 |
G |
T |
9: 109,856,865 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,733,527 (GRCm39) |
M125T |
probably damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,091 (GRCm39) |
D271G |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,310 (GRCm39) |
T221S |
possibly damaging |
Het |
| Neto1 |
T |
A |
18: 86,516,813 (GRCm39) |
S377T |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,555 (GRCm39) |
E210G |
probably damaging |
Het |
| Nos2 |
G |
T |
11: 78,843,797 (GRCm39) |
V915F |
possibly damaging |
Het |
| Nrros |
G |
A |
16: 31,963,030 (GRCm39) |
A329V |
probably benign |
Het |
| Numb |
T |
C |
12: 83,850,578 (GRCm39) |
K211E |
probably benign |
Het |
| Nup210 |
T |
A |
6: 90,995,874 (GRCm39) |
I1671F |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,953,050 (GRCm39) |
L158F |
possibly damaging |
Het |
| Or4c106 |
T |
A |
2: 88,682,847 (GRCm39) |
D184E |
probably benign |
Het |
| Or4c31 |
T |
A |
2: 88,291,691 (GRCm39) |
H2Q |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,812 (GRCm39) |
M386L |
probably benign |
Het |
| Pcdhb3 |
C |
A |
18: 37,434,388 (GRCm39) |
T118K |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,011 (GRCm39) |
I230F |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,488,015 (GRCm39) |
V120I |
probably benign |
Het |
| Pramel15 |
T |
A |
4: 144,099,673 (GRCm39) |
Q364L |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,748 (GRCm39) |
M96L |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,355,293 (GRCm39) |
S1531R |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,636,392 (GRCm39) |
T138A |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,752,837 (GRCm39) |
T175I |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,530 (GRCm39) |
|
probably null |
Het |
| Rps19 |
T |
A |
7: 24,589,190 (GRCm39) |
*146K |
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,082,371 (GRCm39) |
N260S |
probably benign |
Het |
| Serpina3k |
T |
C |
12: 104,311,594 (GRCm39) |
C391R |
not run |
Het |
| Sipa1l1 |
T |
G |
12: 82,467,438 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
A |
6: 28,626,126 (GRCm39) |
Y394N |
probably damaging |
Het |
| Spaca4 |
A |
T |
7: 45,374,831 (GRCm39) |
V57E |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,278 (GRCm39) |
Y142C |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,795,146 (GRCm39) |
K1535E |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,425,435 (GRCm39) |
S541P |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,631,934 (GRCm39) |
F308I |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,090,475 (GRCm39) |
D857G |
probably benign |
Het |
| Timm22 |
A |
G |
11: 76,298,134 (GRCm39) |
D35G |
probably benign |
Het |
| Tram1l1 |
C |
A |
3: 124,114,889 (GRCm39) |
H16Q |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,190,814 (GRCm39) |
Y1382C |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,879,379 (GRCm39) |
D1443E |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,131,072 (GRCm39) |
C1046S |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,375,768 (GRCm39) |
Q230L |
probably damaging |
Het |
| Wnt8b |
C |
A |
19: 44,500,001 (GRCm39) |
T196K |
possibly damaging |
Het |
| Xpo4 |
A |
T |
14: 57,835,436 (GRCm39) |
H628Q |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,663,382 (GRCm39) |
S391N |
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 |
|
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'- CAGAGTAGGTTGTACATTGTATCAG -3'
(R):5'- TGAGTGGCCCATTAGTGTGC -3'
Sequencing Primer
(F):5'- ACATTGTATCAGCATCAATTTCAATG -3'
(R):5'- CCCATTAGTGTGCATTTTAGTGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation