Incidental Mutation 'R9474:Adam5'
| ID |
715644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R9474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25237540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 623
(D623E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
| AlphaFold |
Q3TTE0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050300
AA Change: D623E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: D623E
| 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: D623E
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: D623E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: D540E
| 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 |
possibly damaging
Transcript: ENSMUST00000209935
AA Change: D623E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
C |
A |
10: 78,903,565 (GRCm39) |
K250N |
probably damaging |
Het |
| Akt3 |
T |
C |
1: 176,852,952 (GRCm39) |
Y473C |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,805,617 (GRCm39) |
Y217H |
probably damaging |
Het |
| Clca4b |
T |
A |
3: 144,616,927 (GRCm39) |
T908S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,440,126 (GRCm39) |
Q160* |
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,460,103 (GRCm39) |
I152N |
probably damaging |
Het |
| Ctdspl |
C |
T |
9: 118,866,445 (GRCm39) |
A179V |
probably damaging |
Het |
| Ddx43 |
T |
C |
9: 78,313,668 (GRCm39) |
S200P |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,544,963 (GRCm39) |
D84G |
unknown |
Het |
| Dmbt1 |
G |
A |
7: 130,675,987 (GRCm39) |
R625H |
unknown |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
C |
T |
10: 110,603,050 (GRCm39) |
T355I |
probably damaging |
Het |
| E2f7 |
C |
A |
10: 110,614,918 (GRCm39) |
L541M |
probably damaging |
Het |
| Elovl5 |
T |
A |
9: 77,890,007 (GRCm39) |
S273T |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,093,705 (GRCm39) |
L605Q |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,887,124 (GRCm39) |
D2635E |
probably benign |
Het |
| Gabrb1 |
G |
A |
5: 72,265,690 (GRCm39) |
G195E |
probably damaging |
Het |
| Galm |
A |
G |
17: 80,457,561 (GRCm39) |
D199G |
possibly damaging |
Het |
| Galntl6 |
T |
G |
8: 58,230,359 (GRCm39) |
S20R |
probably damaging |
Het |
| Grb14 |
T |
G |
2: 64,768,744 (GRCm39) |
Y189S |
probably damaging |
Het |
| Hk2 |
T |
A |
6: 82,705,895 (GRCm39) |
I803F |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,506,471 (GRCm39) |
R3779W |
probably damaging |
Het |
| Hmgcr |
A |
C |
13: 96,796,403 (GRCm39) |
M260R |
probably damaging |
Het |
| Hsbp1l1 |
T |
A |
18: 80,276,639 (GRCm39) |
K68N |
possibly damaging |
Het |
| Inhba |
A |
C |
13: 16,192,263 (GRCm39) |
E128A |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
G |
A |
13: 58,167,273 (GRCm39) |
P364S |
probably damaging |
Het |
| Lhpp |
T |
C |
7: 132,243,312 (GRCm39) |
L176P |
probably damaging |
Het |
| Lrp1b |
C |
A |
2: 40,491,599 (GRCm39) |
A223S |
probably damaging |
Het |
| Lrp3 |
A |
G |
7: 34,903,489 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,841,028 (GRCm39) |
T1337A |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,400,019 (GRCm39) |
D17G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,650,903 (GRCm39) |
S302P |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,343,015 (GRCm39) |
M303T |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,816,511 (GRCm39) |
D386G |
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,820 (GRCm39) |
D306E |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,614,453 (GRCm39) |
E308G |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,255,712 (GRCm39) |
S34N |
|
Het |
| Nebl |
C |
A |
2: 17,374,421 (GRCm39) |
G894* |
probably null |
Het |
| Nelfa |
A |
G |
5: 34,056,095 (GRCm39) |
Y523H |
probably damaging |
Het |
| Ninj1 |
A |
G |
13: 49,341,076 (GRCm39) |
D13G |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,782,726 (GRCm39) |
S170T |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,626 (GRCm39) |
V176M |
possibly damaging |
Het |
| Nobox |
G |
A |
6: 43,284,115 (GRCm39) |
R144C |
probably damaging |
Het |
| Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
| Or4a81 |
A |
C |
2: 89,619,506 (GRCm39) |
Y63* |
probably null |
Het |
| Or52z15 |
A |
T |
7: 103,332,477 (GRCm39) |
Y184F |
probably damaging |
Het |
| Or5w20 |
T |
C |
2: 87,726,693 (GRCm39) |
M50T |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,505,150 (GRCm39) |
L25P |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,891 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,757 (GRCm39) |
M15T |
probably benign |
Het |
| Orai1 |
A |
G |
5: 123,167,301 (GRCm39) |
N158S |
probably damaging |
Het |
| Pa2g4 |
C |
A |
10: 128,398,967 (GRCm39) |
V121L |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,571,250 (GRCm39) |
S212P |
possibly damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,622,024 (GRCm39) |
Y448C |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,866 (GRCm39) |
N330K |
probably damaging |
Het |
| Pou2f2 |
A |
G |
7: 24,794,247 (GRCm39) |
L373S |
probably benign |
Het |
| Rnpep |
A |
G |
1: 135,211,341 (GRCm39) |
F136L |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,162,838 (GRCm39) |
|
probably null |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc5a4a |
GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC |
GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC |
10: 75,986,238 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
T |
C |
8: 71,337,596 (GRCm39) |
D574G |
probably benign |
Het |
| Slc7a15 |
T |
A |
12: 8,588,794 (GRCm39) |
N251I |
probably damaging |
Het |
| Speer4a3 |
A |
T |
5: 26,158,136 (GRCm39) |
I72N |
probably damaging |
Het |
| Susd4 |
T |
C |
1: 182,719,665 (GRCm39) |
S427P |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,155,779 (GRCm39) |
T1320S |
probably benign |
Het |
| Tbpl2 |
C |
T |
2: 23,984,650 (GRCm39) |
V166I |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,648 (GRCm39) |
Y270C |
probably damaging |
Het |
| Vps11 |
G |
T |
9: 44,260,290 (GRCm39) |
C857* |
probably null |
Het |
| Vsig10 |
G |
A |
5: 117,463,104 (GRCm39) |
R110H |
probably benign |
Het |
| Wee2 |
T |
A |
6: 40,432,044 (GRCm39) |
Y204* |
probably null |
Het |
| Zfpm2 |
T |
A |
15: 40,966,867 (GRCm39) |
S1117R |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,472 (GRCm39) |
N166S |
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 |
|
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 |
|
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'- TGGCAAGTTCCTTAAGAAGCG -3'
(R):5'- GCTTGACTATATTCTCATAGGTTCG -3'
Sequencing Primer
(F):5'- CAAGTTCCTTAAGAAGCGAAGGC -3'
(R):5'- CATAGGTTCGAATCCTAATTATGGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation