Incidental Mutation 'R3942:Zp3r'
| ID |
312889 |
| 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: 0.126)
|
| Stock # |
R3942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 130504791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 470
(D470E)
|
| 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 benign
Transcript: ENSMUST00000039862
AA Change: D535E
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: D535E
| 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: D491E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: D491E
| 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: D470E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: D470E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,330,908 (GRCm39) |
N6049S |
probably damaging |
Het |
| Aph1a |
C |
T |
3: 95,801,573 (GRCm39) |
R31W |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,063,581 (GRCm39) |
V172A |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Best3 |
T |
A |
10: 116,824,579 (GRCm39) |
F15Y |
possibly damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,265,211 (GRCm39) |
L69R |
possibly damaging |
Het |
| Crcp |
T |
C |
5: 130,063,791 (GRCm39) |
|
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Hps3 |
T |
C |
3: 20,051,103 (GRCm39) |
Y859C |
probably damaging |
Het |
| Irx5 |
C |
A |
8: 93,086,314 (GRCm39) |
N132K |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,393,867 (GRCm39) |
T436A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Krt12 |
A |
G |
11: 99,312,922 (GRCm39) |
S41P |
unknown |
Het |
| Lypd6b |
G |
T |
2: 49,833,552 (GRCm39) |
S64I |
probably damaging |
Het |
| Mpc1 |
T |
A |
17: 8,507,420 (GRCm39) |
|
probably null |
Het |
| Or4c109 |
T |
A |
2: 88,818,455 (GRCm39) |
L30F |
probably benign |
Het |
| Or5b95 |
A |
T |
19: 12,657,768 (GRCm39) |
M99L |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,198,611 (GRCm39) |
I233N |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,932 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,455,422 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
A |
G |
6: 141,673,440 (GRCm39) |
I366T |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,875,276 (GRCm39) |
Q753R |
probably benign |
Het |
| Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
| Trav6-5 |
T |
C |
14: 53,728,838 (GRCm39) |
S32P |
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 |
|
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'- AAGTTCTTCTGGCCCCAAAAC -3'
(R):5'- GGATGCAAAGTCTCTCCTGATTC -3'
Sequencing Primer
(F):5'- CCCAAAACCTTTTAACAGGAGTGGTG -3'
(R):5'- GCAAAGTCTCTCCTGATTCTCTCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation