Incidental Mutation 'PIT4403001:Zp3r'
ID |
555444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
PIT4403001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130510609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 436
(N436I)
|
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: N436I
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: N436I
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 |
possibly damaging
Transcript: ENSMUST00000128128
AA Change: N392I
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: N392I
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 |
possibly damaging
Transcript: ENSMUST00000142416
AA Change: N371I
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: N371I
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 |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,982 (GRCm39) |
G348D |
probably damaging |
Het |
Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,784,099 (GRCm39) |
Q607L |
possibly damaging |
Het |
Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
Rbm5 |
A |
G |
9: 107,637,535 (GRCm39) |
M132T |
probably damaging |
Het |
Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
Slc24a2 |
A |
G |
4: 86,950,523 (GRCm39) |
F425L |
probably benign |
Het |
Smarcc2 |
A |
T |
10: 128,298,893 (GRCm39) |
H92L |
probably damaging |
Het |
Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATCTCTCATGACAATCCCAA -3'
(R):5'- TTGTATTTGTCCATCCAGGGG -3'
Sequencing Primer
(F):5'- TCCCAATTAACTACTAGATCCCAAG -3'
(R):5'- TCCAGGGGGAAAGAAGAATGGC -3'
|
Posted On |
2019-06-07 |