Incidental Mutation 'R0781:Zp3r'
ID |
76600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
038961-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R0781 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 130505621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039862]
[ENSMUST00000128128]
[ENSMUST00000142416]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000039862
|
SMART Domains |
Protein: ENSMUSP00000045443 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 |
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 |
probably null
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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.2%
|
Validation Efficiency |
97% (67/69) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
T |
17: 79,935,180 (GRCm39) |
A98S |
probably benign |
Het |
Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
Ankrd55 |
A |
G |
13: 112,517,767 (GRCm39) |
|
probably benign |
Het |
Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
Cdan1 |
G |
A |
2: 120,551,083 (GRCm39) |
A1103V |
probably damaging |
Het |
Cdk17 |
T |
A |
10: 93,074,895 (GRCm39) |
Y3* |
probably null |
Het |
Cdon |
T |
C |
9: 35,367,733 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
Csmd1 |
A |
C |
8: 15,971,174 (GRCm39) |
I3047S |
probably benign |
Het |
Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
Disp2 |
T |
C |
2: 118,620,920 (GRCm39) |
S551P |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
Gdf7 |
C |
A |
12: 8,351,555 (GRCm39) |
|
probably benign |
Het |
Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
Iqcf4 |
T |
C |
9: 106,445,860 (GRCm39) |
I96V |
probably benign |
Het |
Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
Itpr3 |
C |
T |
17: 27,329,529 (GRCm39) |
H1518Y |
probably benign |
Het |
Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
Kntc1 |
C |
T |
5: 123,937,965 (GRCm39) |
|
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
Nudt7 |
G |
A |
8: 114,862,111 (GRCm39) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
Opa3 |
A |
G |
7: 18,962,524 (GRCm39) |
|
probably benign |
Het |
Or51e2 |
A |
G |
7: 102,392,214 (GRCm39) |
|
probably benign |
Het |
Or5ac15 |
A |
T |
16: 58,940,187 (GRCm39) |
V82D |
probably damaging |
Het |
Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
Pitrm1 |
A |
G |
13: 6,608,280 (GRCm39) |
D335G |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,708 (GRCm39) |
N3533K |
probably benign |
Het |
Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
Ppef2 |
T |
C |
5: 92,392,689 (GRCm39) |
K261R |
probably benign |
Het |
Prdm14 |
A |
G |
1: 13,184,585 (GRCm39) |
S529P |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
Slc26a3 |
A |
T |
12: 31,515,812 (GRCm39) |
I571F |
possibly damaging |
Het |
Slc5a5 |
A |
T |
8: 71,342,864 (GRCm39) |
M232K |
probably benign |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
Ss18l1 |
G |
A |
2: 179,697,647 (GRCm39) |
S177N |
possibly damaging |
Het |
Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
Tmem108 |
C |
T |
9: 103,361,889 (GRCm39) |
V566M |
probably damaging |
Het |
Trmu |
C |
A |
15: 85,763,604 (GRCm39) |
C9* |
probably null |
Het |
Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,879,285 (GRCm39) |
Y3409N |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,873,322 (GRCm39) |
N695K |
probably benign |
Het |
Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTGGGTCTAAGAAACCCTCAAC -3'
(R):5'- CAATGAAAGGGGCATCCCTAGCATC -3'
Sequencing Primer
(F):5'- AAACCCTCAACTCTCACGTTCTG -3'
(R):5'- TGCAGAACCTGACTGCAAG -3'
|
Posted On |
2013-10-16 |