Incidental Mutation 'R5939:Adam32'
| ID |
462430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam32
|
| Ensembl Gene |
ENSMUSG00000037437 |
| Gene Name |
a disintegrin and metallopeptidase domain 32 |
| Synonyms |
|
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25404138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 225
(F225I)
|
| 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: F225I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: F225I
| 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: F225I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: F225I
| 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 |
probably benign
Transcript: ENSMUST00000174059
|
| SMART Domains |
Protein: ENSMUSP00000134680
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
19 |
141 |
4.6e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
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 |
|
|
R1740:Adam32
|
UTSW |
8 |
25,411,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCTGGATTAAGCTATAGCATGTGTC -3'
(R):5'- TGATTACTTGGGCTCTGACAG -3'
Sequencing Primer
(F):5'- AGCTATAGCATGTGTCTTATGTTTTC -3'
(R):5'- CATGAGTATAAACAGAGTGTGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation