Incidental Mutation 'IGL01783:Zp3r'
| ID |
154217 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zp3r
|
| Ensembl Gene |
ENSMUSG00000042554 |
| Gene Name |
zona pellucida 3 receptor |
| Synonyms |
SP56 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL01783
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130526603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 200
(V200D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039862]
[ENSMUST00000128128]
[ENSMUST00000142416]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039862
AA Change: V200D
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: V200D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
CCP
|
34 |
91 |
2.52e-7 |
SMART |
|
CCP
|
96 |
153 |
3.17e-13 |
SMART |
|
CCP
|
158 |
218 |
8.23e-12 |
SMART |
|
CCP
|
223 |
278 |
1.77e-11 |
SMART |
|
CCP
|
283 |
345 |
5.32e-6 |
SMART |
|
CCP
|
350 |
411 |
3.67e-9 |
SMART |
|
CCP
|
456 |
509 |
6.95e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128128
|
| SMART Domains |
Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
55 |
112 |
2.52e-7 |
SMART |
|
CCP
|
117 |
174 |
3.17e-13 |
SMART |
|
CCP
|
179 |
234 |
1.77e-11 |
SMART |
|
CCP
|
239 |
301 |
5.32e-6 |
SMART |
|
CCP
|
306 |
367 |
3.67e-9 |
SMART |
|
CCP
|
412 |
465 |
6.95e-10 |
SMART |
|
PDB:4B0F|G
|
468 |
513 |
8e-8 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142416
|
| SMART Domains |
Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
CCP
|
34 |
91 |
2.52e-7 |
SMART |
|
CCP
|
96 |
153 |
3.17e-13 |
SMART |
|
CCP
|
158 |
213 |
1.77e-11 |
SMART |
|
CCP
|
218 |
280 |
5.32e-6 |
SMART |
|
CCP
|
285 |
346 |
3.67e-9 |
SMART |
|
CCP
|
391 |
444 |
6.95e-10 |
SMART |
|
PDB:4B0F|G
|
447 |
492 |
8e-8 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and sperm morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
| Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,624 (GRCm39) |
T157A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
| Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
| Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
| Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
| Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
| Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
| Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
| Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
| Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
| Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
| Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
| Gss |
T |
C |
2: 155,413,479 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
| Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
| Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
| Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,818,745 (GRCm39) |
L413P |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
| Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
| Piwil1 |
A |
G |
5: 128,820,890 (GRCm39) |
N272D |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
| Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
| Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
| Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
| Zfp418 |
G |
T |
7: 7,184,448 (GRCm39) |
W137L |
possibly damaging |
Het |
|
| Other mutations in Zp3r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Zp3r
|
APN |
1 |
130,547,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01820:Zp3r
|
APN |
1 |
130,526,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01959:Zp3r
|
APN |
1 |
130,519,188 (GRCm39) |
nonsense |
probably null |
|
|
IGL01978:Zp3r
|
APN |
1 |
130,526,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Zp3r
|
APN |
1 |
130,524,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02290:Zp3r
|
APN |
1 |
130,547,102 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02878:Zp3r
|
APN |
1 |
130,510,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02960:Zp3r
|
APN |
1 |
130,511,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
BB006:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
|
BB016:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
|
PIT4403001:Zp3r
|
UTSW |
1 |
130,510,609 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0433:Zp3r
|
UTSW |
1 |
130,504,870 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Zp3r
|
UTSW |
1 |
130,546,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Zp3r
|
UTSW |
1 |
130,505,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1110:Zp3r
|
UTSW |
1 |
130,505,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1126:Zp3r
|
UTSW |
1 |
130,546,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Zp3r
|
UTSW |
1 |
130,519,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Zp3r
|
UTSW |
1 |
130,510,617 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1728:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1728:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1729:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1730:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1739:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1762:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1783:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1784:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3942:Zp3r
|
UTSW |
1 |
130,504,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4429:Zp3r
|
UTSW |
1 |
130,519,128 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4571:Zp3r
|
UTSW |
1 |
130,505,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Zp3r
|
UTSW |
1 |
130,542,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Zp3r
|
UTSW |
1 |
130,505,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Zp3r
|
UTSW |
1 |
130,510,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Zp3r
|
UTSW |
1 |
130,526,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Zp3r
|
UTSW |
1 |
130,524,518 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5554:Zp3r
|
UTSW |
1 |
130,511,208 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5629:Zp3r
|
UTSW |
1 |
130,510,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6154:Zp3r
|
UTSW |
1 |
130,526,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Zp3r
|
UTSW |
1 |
130,519,305 (GRCm39) |
splice site |
probably null |
|
|
R6949:Zp3r
|
UTSW |
1 |
130,505,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Zp3r
|
UTSW |
1 |
130,511,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7399:Zp3r
|
UTSW |
1 |
130,504,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7929:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7944:Zp3r
|
UTSW |
1 |
130,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Zp3r
|
UTSW |
1 |
130,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8367:Zp3r
|
UTSW |
1 |
130,526,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Zp3r
|
UTSW |
1 |
130,511,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation