Incidental Mutation 'R6173:Zp3r'
ID |
501874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
044316-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6173 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 130519305 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 |
noncoding transcript
Transcript: ENSMUST00000082461
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
96% (52/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
T |
C |
3: 126,846,395 (GRCm39) |
D219G |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,906,965 (GRCm39) |
I18N |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,271,361 (GRCm39) |
S1315P |
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,646,523 (GRCm39) |
C432* |
probably null |
Het |
Bend3 |
A |
G |
10: 43,385,864 (GRCm39) |
T86A |
probably benign |
Het |
Cadm2 |
C |
T |
16: 66,679,729 (GRCm39) |
V35I |
probably benign |
Het |
Ch25h |
A |
G |
19: 34,451,896 (GRCm39) |
S211P |
probably damaging |
Het |
Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,036,338 (GRCm39) |
|
probably null |
Het |
Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
Dazl |
A |
T |
17: 50,594,599 (GRCm39) |
M152K |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,930,772 (GRCm39) |
S3748P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,212,388 (GRCm39) |
K1251R |
probably null |
Het |
Esr1 |
T |
C |
10: 4,696,760 (GRCm39) |
V203A |
probably damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,305,588 (GRCm39) |
I262T |
probably damaging |
Het |
Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
Fshb |
T |
C |
2: 106,887,638 (GRCm39) |
E127G |
possibly damaging |
Het |
Galk2 |
A |
G |
2: 125,701,137 (GRCm39) |
|
probably benign |
Het |
Gid4 |
A |
G |
11: 60,323,241 (GRCm39) |
D111G |
probably damaging |
Het |
Gm14412 |
G |
A |
2: 177,006,330 (GRCm39) |
P522S |
probably damaging |
Het |
Iqank1 |
A |
G |
15: 75,917,237 (GRCm39) |
E290G |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,376,245 (GRCm39) |
|
probably null |
Het |
Mfsd2a |
A |
G |
4: 122,845,039 (GRCm39) |
V224A |
probably benign |
Het |
Mocos |
A |
T |
18: 24,809,639 (GRCm39) |
Y414F |
probably benign |
Het |
Mrto4 |
T |
C |
4: 139,077,755 (GRCm39) |
I27V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,554,958 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,840,752 (GRCm39) |
I534N |
probably damaging |
Het |
Mup20 |
A |
T |
4: 61,972,267 (GRCm39) |
L7Q |
unknown |
Het |
Nlrp2 |
T |
C |
7: 5,340,808 (GRCm39) |
E2G |
probably damaging |
Het |
Or11g1 |
A |
G |
14: 50,651,654 (GRCm39) |
I218V |
possibly damaging |
Het |
Or12k7 |
A |
G |
2: 36,959,091 (GRCm39) |
Y258C |
possibly damaging |
Het |
Or2y16 |
T |
C |
11: 49,335,299 (GRCm39) |
V207A |
probably benign |
Het |
Or6z5 |
C |
T |
7: 6,477,835 (GRCm39) |
A242V |
probably damaging |
Het |
Parn |
T |
C |
16: 13,469,675 (GRCm39) |
T209A |
possibly damaging |
Het |
Psip1 |
T |
A |
4: 83,391,286 (GRCm39) |
|
probably null |
Het |
Ptprc |
A |
C |
1: 137,995,628 (GRCm39) |
C1157G |
probably damaging |
Het |
Rad17 |
A |
C |
13: 100,759,389 (GRCm39) |
V546G |
probably benign |
Het |
Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
Safb |
A |
G |
17: 56,904,798 (GRCm39) |
E124G |
probably damaging |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,392,907 (GRCm39) |
T1242A |
unknown |
Het |
Slc13a5 |
C |
T |
11: 72,144,023 (GRCm39) |
E352K |
probably benign |
Het |
Sohlh2 |
G |
T |
3: 55,104,419 (GRCm39) |
V263F |
probably benign |
Het |
Strn |
A |
G |
17: 79,008,298 (GRCm39) |
Y107H |
probably damaging |
Het |
Tbx15 |
G |
T |
3: 99,161,203 (GRCm39) |
E3* |
probably null |
Het |
Tespa1 |
A |
G |
10: 130,183,172 (GRCm39) |
D39G |
probably benign |
Het |
Trp73 |
A |
T |
4: 154,188,798 (GRCm39) |
D54E |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,980,151 (GRCm39) |
S912C |
probably damaging |
Het |
Utp14b |
A |
T |
1: 78,643,554 (GRCm39) |
D484V |
probably benign |
Het |
Utp14b |
A |
C |
1: 78,643,557 (GRCm39) |
N485T |
probably benign |
Het |
Vmn2r29 |
T |
C |
7: 7,234,369 (GRCm39) |
E839G |
probably benign |
Het |
Vmn2r6 |
G |
C |
3: 64,467,176 (GRCm39) |
P108A |
probably damaging |
Het |
Vps8 |
T |
G |
16: 21,314,682 (GRCm39) |
|
probably null |
Het |
Zfp36l1 |
A |
T |
12: 80,156,320 (GRCm39) |
|
probably null |
Het |
Zfp998 |
T |
A |
13: 66,579,608 (GRCm39) |
T292S |
probably benign |
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 |
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 |
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'- TTCCTGACAAGTCACAGTCTGG -3'
(R):5'- TGTTAACCCTTTAGTCACTGGTTAC -3'
Sequencing Primer
(F):5'- GGGATCGTTAAGACTTGCTCGATAAC -3'
(R):5'- GTCACTGGTTACTTTTAATACTCTGG -3'
|
Posted On |
2017-12-04 |