Incidental Mutation 'R1740:Adam32'
| ID |
200285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam32
|
| Ensembl Gene |
ENSMUSG00000037437 |
| Gene Name |
a disintegrin and metallopeptidase domain 32 |
| Synonyms |
|
| MMRRC Submission |
039772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25411314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 116
(S116P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
|
| AlphaFold |
Q8K410 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119720
AA Change: S116P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: S116P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
32 |
145 |
4.5e-32 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
4.1e-66 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
318 |
6.2e-7 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121438
AA Change: S116P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: S116P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
24 |
145 |
8.4e-26 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
1.3e-68 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
EGF
|
631 |
660 |
1.73e0 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133088
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174059
AA Change: S111P
|
| SMART Domains |
Protein: ENSMUSP00000134680
Gene: ENSMUSG00000037437
AA Change: S111P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
19 |
141 |
4.6e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.6465 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (69/70) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,549 (GRCm39) |
C417* |
probably null |
Het |
| 4930548G14Rik |
G |
A |
15: 46,488,885 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
T |
A |
8: 87,232,126 (GRCm39) |
K1311* |
probably null |
Het |
| Abcc12 |
T |
C |
8: 87,236,400 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,331,004 (GRCm39) |
L39F |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,855,663 (GRCm39) |
I252T |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc61 |
G |
T |
7: 18,637,862 (GRCm39) |
|
probably benign |
Het |
| Ccdc89 |
C |
T |
7: 90,075,946 (GRCm39) |
S52F |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,144,133 (GRCm39) |
I320N |
possibly damaging |
Het |
| Cebpe |
T |
C |
14: 54,949,399 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,276 (GRCm39) |
I598N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,579 (GRCm39) |
I835F |
probably damaging |
Het |
| Ces3a |
T |
C |
8: 105,775,317 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,873,558 (GRCm39) |
S490G |
probably benign |
Het |
| Cyp2j11 |
A |
G |
4: 96,207,613 (GRCm39) |
V234A |
probably benign |
Het |
| Dgat1 |
T |
C |
15: 76,386,929 (GRCm39) |
H399R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,850,254 (GRCm39) |
|
probably null |
Het |
| Ebpl |
T |
G |
14: 61,578,656 (GRCm39) |
K193T |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,443,545 (GRCm39) |
N66S |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,800,674 (GRCm39) |
G1240V |
possibly damaging |
Het |
| Gabra5 |
A |
G |
7: 57,071,590 (GRCm39) |
S209P |
probably benign |
Het |
| Glce |
A |
T |
9: 61,977,815 (GRCm39) |
V23D |
probably damaging |
Het |
| Gm14226 |
GACTGTTAC |
GAC |
2: 154,866,851 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,461,890 (GRCm39) |
N296S |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,629,050 (GRCm39) |
S654P |
probably benign |
Het |
| Kcnk3 |
A |
T |
5: 30,779,321 (GRCm39) |
M124L |
possibly damaging |
Het |
| Lamb2 |
T |
G |
9: 108,359,127 (GRCm39) |
V281G |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,040,389 (GRCm39) |
D444V |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,861,026 (GRCm39) |
F891L |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,376 (GRCm39) |
H166Q |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,933,043 (GRCm39) |
R739L |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,219,676 (GRCm39) |
E426G |
probably damaging |
Het |
| Mkrn2 |
G |
T |
6: 115,590,330 (GRCm39) |
A229S |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,278 (GRCm39) |
Y80C |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,953,222 (GRCm39) |
|
probably null |
Het |
| Msh6 |
C |
A |
17: 88,293,150 (GRCm39) |
T635K |
possibly damaging |
Het |
| Mvd |
T |
A |
8: 123,163,286 (GRCm39) |
T315S |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,109,347 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,386,127 (GRCm39) |
|
probably null |
Het |
| Or4k48 |
T |
A |
2: 111,476,214 (GRCm39) |
I43F |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,344,548 (GRCm39) |
D141V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,214,905 (GRCm39) |
D978V |
possibly damaging |
Het |
| Prss55 |
T |
C |
14: 64,313,129 (GRCm39) |
T252A |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,573,491 (GRCm39) |
V230E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptprn |
A |
G |
1: 75,238,694 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpru |
G |
T |
4: 131,520,989 (GRCm39) |
|
probably null |
Het |
| Raph1 |
T |
A |
1: 60,558,183 (GRCm39) |
K258* |
probably null |
Het |
| Rnf25 |
A |
G |
1: 74,637,886 (GRCm39) |
V28A |
probably damaging |
Het |
| Slc25a4 |
C |
T |
8: 46,661,540 (GRCm39) |
V212M |
probably benign |
Het |
| Slc39a3 |
T |
C |
10: 80,867,342 (GRCm39) |
S135G |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,356,097 (GRCm39) |
I220M |
probably damaging |
Het |
| Smim19 |
G |
T |
8: 22,963,544 (GRCm39) |
Y21* |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,683,759 (GRCm39) |
Y141S |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,217,126 (GRCm39) |
P1062L |
probably benign |
Het |
| Stra8 |
A |
T |
6: 34,904,654 (GRCm39) |
|
probably benign |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem40 |
A |
G |
6: 115,715,960 (GRCm39) |
S76P |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,869 (GRCm39) |
Q191L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adam32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Adam32
|
APN |
8 |
25,411,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Adam32
|
APN |
8 |
25,327,846 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Adam32
|
APN |
8 |
25,362,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Adam32
|
APN |
8 |
25,362,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Adam32
|
APN |
8 |
25,404,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01659:Adam32
|
APN |
8 |
25,360,790 (GRCm39) |
splice site |
probably benign |
|
|
IGL01994:Adam32
|
APN |
8 |
25,392,812 (GRCm39) |
splice site |
probably benign |
|
|
IGL02137:Adam32
|
APN |
8 |
25,362,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Adam32
|
APN |
8 |
25,410,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Adam32
|
APN |
8 |
25,388,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Adam32
|
APN |
8 |
25,368,727 (GRCm39) |
intron |
probably benign |
|
|
IGL02929:Adam32
|
APN |
8 |
25,362,659 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03273:Adam32
|
APN |
8 |
25,411,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Adam32
|
UTSW |
8 |
25,404,342 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0088:Adam32
|
UTSW |
8 |
25,404,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0189:Adam32
|
UTSW |
8 |
25,412,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1853:Adam32
|
UTSW |
8 |
25,388,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2090:Adam32
|
UTSW |
8 |
25,391,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2906:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4304:Adam32
|
UTSW |
8 |
25,391,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Adam32
|
UTSW |
8 |
25,374,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Adam32
|
UTSW |
8 |
25,353,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Adam32
|
UTSW |
8 |
25,354,467 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5398:Adam32
|
UTSW |
8 |
25,362,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5524:Adam32
|
UTSW |
8 |
25,412,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5939:Adam32
|
UTSW |
8 |
25,404,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Adam32
|
UTSW |
8 |
25,353,445 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6766:Adam32
|
UTSW |
8 |
25,362,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6893:Adam32
|
UTSW |
8 |
25,368,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Adam32
|
UTSW |
8 |
25,404,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Adam32
|
UTSW |
8 |
25,388,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7457:Adam32
|
UTSW |
8 |
25,374,635 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7864:Adam32
|
UTSW |
8 |
25,412,292 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8083:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Adam32
|
UTSW |
8 |
25,391,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8376:Adam32
|
UTSW |
8 |
25,409,936 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8681:Adam32
|
UTSW |
8 |
25,327,811 (GRCm39) |
missense |
unknown |
|
|
R9154:Adam32
|
UTSW |
8 |
25,438,769 (GRCm39) |
small deletion |
probably benign |
|
|
R9391:Adam32
|
UTSW |
8 |
25,374,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adam32
|
UTSW |
8 |
25,438,766 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCTGTAGCCCAGAACATTCC -3'
(R):5'- ACAAGATAACCTCCTTCTCTAGGCGG -3'
Sequencing Primer
(F):5'- AGGATATTAGGACATCTAAACCCTC -3'
(R):5'- CATGATTTCTCAAGGGTCCCAGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation