Incidental Mutation 'R6730:Adam2'
| ID |
530034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam2
|
| Ensembl Gene |
ENSMUSG00000022039 |
| Gene Name |
a disintegrin and metallopeptidase domain 2 |
| Synonyms |
fertilin beta, Ph30-beta, Ftnb |
| MMRRC Submission |
044848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66264778-66315182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66275025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 569
(N569K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022618]
|
| AlphaFold |
Q60718 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022618
AA Change: N569K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: N569K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
17 |
147 |
2.1e-26 |
PFAM |
|
Pfam:Reprolysin
|
184 |
381 |
7.1e-73 |
PFAM |
|
DISIN
|
398 |
474 |
1.21e-27 |
SMART |
|
ACR
|
475 |
612 |
6.96e-62 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
733 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (44/44) |
| 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. This gene is predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
| Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
| Adam20 |
T |
C |
8: 41,249,696 (GRCm39) |
V602A |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
| Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,825,516 (GRCm39) |
S478P |
possibly damaging |
Het |
| Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
| Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
| Clvs2 |
A |
G |
10: 33,404,517 (GRCm39) |
L233P |
probably damaging |
Het |
| Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
| Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
| Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
| Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
| Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
| Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
| Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
| Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
| Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
| Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
| Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
| Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,212 (GRCm39) |
Q831R |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,557,898 (GRCm39) |
R527* |
probably null |
Het |
| Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
| Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
| Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
probably benign |
Het |
|
| Other mutations in Adam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Adam2
|
APN |
14 |
66,311,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00980:Adam2
|
APN |
14 |
66,293,977 (GRCm39) |
nonsense |
probably null |
|
|
IGL01404:Adam2
|
APN |
14 |
66,314,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01901:Adam2
|
APN |
14 |
66,272,678 (GRCm39) |
splice site |
probably benign |
|
|
IGL02687:Adam2
|
APN |
14 |
66,306,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Adam2
|
APN |
14 |
66,311,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Adam2
|
APN |
14 |
66,287,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02798:Adam2
|
APN |
14 |
66,277,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03217:Adam2
|
APN |
14 |
66,272,262 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03256:Adam2
|
APN |
14 |
66,291,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
aldrin
|
UTSW |
14 |
66,295,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
armstrong
|
UTSW |
14 |
66,275,006 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
sacher
|
UTSW |
14 |
66,306,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
zuker
|
UTSW |
14 |
66,297,361 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0092:Adam2
|
UTSW |
14 |
66,291,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Adam2
|
UTSW |
14 |
66,275,055 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0636:Adam2
|
UTSW |
14 |
66,272,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0690:Adam2
|
UTSW |
14 |
66,295,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Adam2
|
UTSW |
14 |
66,267,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Adam2
|
UTSW |
14 |
66,315,149 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1634:Adam2
|
UTSW |
14 |
66,295,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Adam2
|
UTSW |
14 |
66,314,700 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1717:Adam2
|
UTSW |
14 |
66,306,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Adam2
|
UTSW |
14 |
66,315,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1915:Adam2
|
UTSW |
14 |
66,275,006 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3748:Adam2
|
UTSW |
14 |
66,297,361 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3953:Adam2
|
UTSW |
14 |
66,295,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Adam2
|
UTSW |
14 |
66,295,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Adam2
|
UTSW |
14 |
66,295,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Adam2
|
UTSW |
14 |
66,295,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Adam2
|
UTSW |
14 |
66,295,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Adam2
|
UTSW |
14 |
66,267,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5673:Adam2
|
UTSW |
14 |
66,306,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5761:Adam2
|
UTSW |
14 |
66,283,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Adam2
|
UTSW |
14 |
66,306,068 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6499:Adam2
|
UTSW |
14 |
66,296,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Adam2
|
UTSW |
14 |
66,265,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7023:Adam2
|
UTSW |
14 |
66,280,505 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7168:Adam2
|
UTSW |
14 |
66,296,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7228:Adam2
|
UTSW |
14 |
66,291,361 (GRCm39) |
nonsense |
probably null |
|
|
R7293:Adam2
|
UTSW |
14 |
66,272,634 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7604:Adam2
|
UTSW |
14 |
66,293,990 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7765:Adam2
|
UTSW |
14 |
66,297,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Adam2
|
UTSW |
14 |
66,275,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8532:Adam2
|
UTSW |
14 |
66,293,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Adam2
|
UTSW |
14 |
66,295,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Adam2
|
UTSW |
14 |
66,272,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9282:Adam2
|
UTSW |
14 |
66,267,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9307:Adam2
|
UTSW |
14 |
66,287,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Adam2
|
UTSW |
14 |
66,275,102 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9574:Adam2
|
UTSW |
14 |
66,275,071 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9608:Adam2
|
UTSW |
14 |
66,291,279 (GRCm39) |
missense |
probably null |
0.05 |
|
X0061:Adam2
|
UTSW |
14 |
66,291,354 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Adam2
|
UTSW |
14 |
66,293,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAACTTCTATGTGGGATTGCAC -3'
(R):5'- TGTGGTATCCAAAACTAACTGCG -3'
Sequencing Primer
(F):5'- GGGATTGCACACTTACATTTCGAGAG -3'
(R):5'- GGTATCCAAAACTAACTGCGTATATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation