Incidental Mutation 'IGL01978:Zp3r'
| ID |
181778 |
| 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 # |
IGL01978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130526678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039862]
[ENSMUST00000128128]
[ENSMUST00000142416]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039862
AA Change: D175G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: D175G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,164 (GRCm39) |
T6S |
probably damaging |
Het |
| Acot5 |
T |
C |
12: 84,122,172 (GRCm39) |
V252A |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,292,737 (GRCm39) |
N349Y |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
G |
A |
4: 120,901,863 (GRCm39) |
G139E |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,248,866 (GRCm39) |
N1805I |
probably damaging |
Het |
| Cyp2j8 |
A |
C |
4: 96,392,246 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,284,682 (GRCm39) |
D612G |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,107,253 (GRCm39) |
R456Q |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,972 (GRCm39) |
T3253A |
probably benign |
Het |
| Hoxc12 |
T |
A |
15: 102,845,299 (GRCm39) |
H4Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,633,891 (GRCm39) |
E445G |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,787 (GRCm39) |
E937G |
probably benign |
Het |
| Kif5a |
A |
C |
10: 127,081,608 (GRCm39) |
D185E |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,178,485 (GRCm39) |
D495G |
probably damaging |
Het |
| Klra5 |
A |
G |
6: 129,888,393 (GRCm39) |
V11A |
probably benign |
Het |
| Lrch1 |
G |
A |
14: 75,023,782 (GRCm39) |
T581M |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,017,315 (GRCm39) |
I450T |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,312 (GRCm39) |
V138L |
probably damaging |
Het |
| Muc15 |
G |
A |
2: 110,561,941 (GRCm39) |
A126T |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,367,632 (GRCm39) |
I522K |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,703,444 (GRCm39) |
R234H |
probably damaging |
Het |
| Or5b98 |
T |
C |
19: 12,931,406 (GRCm39) |
F151S |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Pdia6 |
T |
A |
12: 17,324,423 (GRCm39) |
H91Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,858,010 (GRCm39) |
H445L |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,336 (GRCm39) |
T314A |
unknown |
Het |
| Rb1cc1 |
A |
G |
1: 6,308,592 (GRCm39) |
D159G |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,031 (GRCm39) |
S100R |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,868,816 (GRCm39) |
D618E |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,817,116 (GRCm39) |
V4A |
probably damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,541 (GRCm39) |
M1L |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,331,005 (GRCm39) |
N1379S |
probably benign |
Het |
| Tmed3 |
T |
C |
9: 89,586,806 (GRCm39) |
D58G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,596 (GRCm39) |
A240V |
probably benign |
Het |
| Ubox5 |
A |
T |
2: 130,442,372 (GRCm39) |
V105E |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,800,649 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,837,925 (GRCm39) |
H1825R |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,197 (GRCm39) |
P329T |
unknown |
Het |
| Wee2 |
T |
C |
6: 40,432,087 (GRCm39) |
F219L |
probably 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 |
|
IGL01783:Zp3r
|
APN |
1 |
130,526,603 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01820:Zp3r
|
APN |
1 |
130,526,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01959:Zp3r
|
APN |
1 |
130,519,188 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation