Incidental Mutation 'R8305:Adam5'
| ID |
641007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam5
|
| Ensembl Gene |
ENSMUSG00000031554 |
| Gene Name |
a disintegrin and metallopeptidase domain 5 |
| Synonyms |
tMDCII |
| MMRRC Submission |
067716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25300719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 270
(A270V)
|
| 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: A270V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: A270V
| 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: A270V
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: A270V
| 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 |
possibly damaging
Transcript: ENSMUST00000132180
AA Change: A187V
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: A187V
| 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: A270V
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,208,844 (GRCm39) |
E243K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,696,423 (GRCm39) |
H58Q |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,744 (GRCm39) |
F90L |
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,548 (GRCm39) |
T103A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,219 (GRCm39) |
L1757P |
possibly damaging |
Het |
| Apoa4 |
T |
A |
9: 46,152,453 (GRCm39) |
M1K |
probably null |
Het |
| Arih1 |
T |
A |
9: 59,303,770 (GRCm39) |
Q445L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,634,054 (GRCm39) |
I420L |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,800,953 (GRCm39) |
V626G |
probably damaging |
Het |
| Cep290 |
C |
A |
10: 100,380,796 (GRCm39) |
A1678D |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,464,927 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,531,698 (GRCm39) |
N702I |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,179,937 (GRCm39) |
V1143A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,388,863 (GRCm39) |
T223A |
probably benign |
Het |
| Defa30 |
A |
T |
8: 21,625,475 (GRCm39) |
T80S |
probably benign |
Het |
| Dennd1a |
G |
A |
2: 37,748,093 (GRCm39) |
L375F |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,480,984 (GRCm39) |
T675I |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,822,556 (GRCm39) |
V4A |
probably damaging |
Het |
| Enpp3 |
C |
G |
10: 24,700,827 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 59,952,782 (GRCm39) |
T154A |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,727,757 (GRCm39) |
Y287* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,284,864 (GRCm39) |
D751G |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,226 (GRCm39) |
Q572L |
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Gm39115 |
A |
G |
7: 141,689,360 (GRCm39) |
C138R |
unknown |
Het |
| Gm7356 |
T |
A |
17: 14,221,699 (GRCm39) |
Y110F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,952,747 (GRCm39) |
K233R |
probably benign |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,206 (GRCm39) |
E103D |
probably benign |
Het |
| Igsf11 |
C |
A |
16: 38,827,586 (GRCm39) |
T48N |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,913,944 (GRCm39) |
Y506N |
probably damaging |
Het |
| Kat2a |
A |
C |
11: 100,600,304 (GRCm39) |
M357R |
possibly damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,132 (GRCm39) |
R233G |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,726,197 (GRCm39) |
C563* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,018 (GRCm39) |
V456A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,825 (GRCm39) |
V45A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,289,414 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
T |
A |
1: 127,745,007 (GRCm39) |
E1177D |
|
Het |
| Mdn1 |
G |
T |
4: 32,725,107 (GRCm39) |
L2575F |
probably benign |
Het |
| Mga |
T |
A |
2: 119,776,800 (GRCm39) |
M1569K |
possibly damaging |
Het |
| Mvk |
T |
C |
5: 114,588,840 (GRCm39) |
Y161H |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,389 (GRCm39) |
M276K |
probably benign |
Het |
| Or14c44 |
G |
T |
7: 86,061,987 (GRCm39) |
C139F |
probably damaging |
Het |
| Or2n1 |
C |
A |
17: 38,486,464 (GRCm39) |
T163K |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,075 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,821,707 (GRCm39) |
V167G |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,221 (GRCm39) |
D146G |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,188,000 (GRCm39) |
G879R |
possibly damaging |
Het |
| Prss58 |
C |
T |
6: 40,872,594 (GRCm39) |
A171T |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,499,231 (GRCm39) |
I1016V |
probably benign |
Het |
| Rbm43 |
A |
G |
2: 51,816,712 (GRCm39) |
V85A |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,864 (GRCm39) |
D287E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,702,812 (GRCm39) |
L393Q |
probably damaging |
Het |
| Sbf2 |
T |
G |
7: 109,970,825 (GRCm39) |
H857P |
possibly damaging |
Het |
| Scn8a |
A |
C |
15: 100,938,387 (GRCm39) |
T1919P |
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,434,084 (GRCm39) |
G377E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,975,603 (GRCm39) |
D436E |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,901 (GRCm39) |
I535F |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,779,158 (GRCm39) |
S281T |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,083,999 (GRCm39) |
I392M |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,660 (GRCm39) |
V201A |
possibly damaging |
Het |
| Timm10b |
T |
C |
7: 105,289,876 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
A |
C |
7: 67,312,135 (GRCm39) |
D14A |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,923,011 (GRCm39) |
L636I |
possibly damaging |
Het |
| Vgll4 |
G |
T |
6: 114,867,613 (GRCm39) |
H79Q |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,858 (GRCm39) |
I3047T |
|
Het |
| Zan |
T |
C |
5: 137,448,813 (GRCm39) |
E1680G |
unknown |
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 |
|
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'- CCTGCTATCCATTTATCACTAAGAGTC -3'
(R):5'- GCTCCTGAAGCCTCTTTGTAAC -3'
Sequencing Primer
(F):5'- CAGAACTGTAGAGATTTGATAACAGG -3'
(R):5'- GCCTCTTTGTAACCTGAAATAACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation