Incidental Mutation 'R5355:Zp3r'
ID |
424016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
042934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R5355 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130524518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 175
(F175S)
|
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: F240S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: F240S
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
AA Change: F196S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: F196S
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
AA Change: F175S
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: F175S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
94% (50/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,776,873 (GRCm39) |
L857P |
probably damaging |
Het |
Adam12 |
T |
C |
7: 133,489,671 (GRCm39) |
*582W |
probably null |
Het |
Adra1d |
A |
G |
2: 131,403,007 (GRCm39) |
V361A |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,737,698 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
T |
A |
15: 85,346,515 (GRCm39) |
N424K |
probably damaging |
Het |
C8b |
A |
G |
4: 104,637,860 (GRCm39) |
T111A |
probably benign |
Het |
Ccdc168 |
A |
C |
1: 44,097,139 (GRCm39) |
C1320G |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdr2l |
T |
C |
11: 115,284,396 (GRCm39) |
V244A |
possibly damaging |
Het |
Col11a2 |
A |
G |
17: 34,270,775 (GRCm39) |
M468V |
probably benign |
Het |
Col4a2 |
G |
A |
8: 11,495,984 (GRCm39) |
R1535H |
probably damaging |
Het |
Cryab |
A |
T |
9: 50,664,751 (GRCm39) |
S59C |
probably damaging |
Het |
Cuzd1 |
G |
A |
7: 130,917,853 (GRCm39) |
T249I |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,617,392 (GRCm39) |
V129M |
probably benign |
Het |
Dlg2 |
G |
T |
7: 91,099,011 (GRCm39) |
R31L |
probably benign |
Het |
Dthd1 |
A |
C |
5: 62,996,730 (GRCm39) |
L488F |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Fat2 |
T |
G |
11: 55,172,992 (GRCm39) |
I2574L |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,231,247 (GRCm39) |
D1610G |
probably damaging |
Het |
Gm10330 |
T |
A |
12: 23,830,131 (GRCm39) |
N17Y |
probably damaging |
Het |
Gm4787 |
T |
A |
12: 81,424,239 (GRCm39) |
R640* |
probably null |
Het |
H2bc13 |
A |
T |
13: 21,900,030 (GRCm39) |
I95N |
probably damaging |
Het |
Ift88 |
T |
A |
14: 57,675,699 (GRCm39) |
S71T |
probably benign |
Het |
Isoc2b |
A |
G |
7: 4,852,357 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
G |
T |
10: 77,393,886 (GRCm39) |
R442L |
probably benign |
Het |
Lama5 |
A |
T |
2: 179,823,444 (GRCm39) |
N2658K |
possibly damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,538 (GRCm39) |
I598K |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,285,182 (GRCm39) |
C3825* |
probably null |
Het |
Mep1a |
T |
C |
17: 43,788,037 (GRCm39) |
D673G |
probably damaging |
Het |
Met |
A |
G |
6: 17,491,361 (GRCm39) |
Y41C |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,979,035 (GRCm39) |
V99A |
probably damaging |
Het |
Mmadhc |
A |
G |
2: 50,181,436 (GRCm39) |
I78T |
probably benign |
Het |
Mmp9 |
C |
A |
2: 164,792,912 (GRCm39) |
P389T |
possibly damaging |
Het |
Mvk |
T |
G |
5: 114,590,499 (GRCm39) |
S7A |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,015,077 (GRCm39) |
T58S |
probably benign |
Het |
Nlrp1c-ps |
C |
A |
11: 71,148,839 (GRCm39) |
|
noncoding transcript |
Het |
Nr1h3 |
A |
G |
2: 91,022,253 (GRCm39) |
I125T |
possibly damaging |
Het |
Or2a55-ps1 |
C |
T |
6: 43,071,598 (GRCm39) |
|
noncoding transcript |
Het |
Or8k39 |
A |
T |
2: 86,563,680 (GRCm39) |
I92K |
probably damaging |
Het |
Parn |
A |
G |
16: 13,485,886 (GRCm39) |
I3T |
possibly damaging |
Het |
Parp8 |
A |
G |
13: 116,998,740 (GRCm39) |
|
probably null |
Het |
Parva |
T |
C |
7: 112,143,475 (GRCm39) |
|
probably null |
Het |
Pwp2 |
A |
C |
10: 78,011,378 (GRCm39) |
I672M |
possibly damaging |
Het |
Sfswap |
C |
T |
5: 129,616,810 (GRCm39) |
T418I |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,709,078 (GRCm39) |
Y334C |
probably damaging |
Het |
Slc7a13 |
C |
A |
4: 19,839,267 (GRCm39) |
T290K |
probably benign |
Het |
Spry2 |
A |
G |
14: 106,130,712 (GRCm39) |
L158P |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,847,342 (GRCm39) |
E150G |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,769 (GRCm39) |
F134L |
possibly damaging |
Het |
Zscan22 |
C |
A |
7: 12,640,435 (GRCm39) |
N67K |
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 |
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'- CGCCCACATTCTGGATAACC -3'
(R):5'- AATGTTTTCCTTGCACATACCTGAC -3'
Sequencing Primer
(F):5'- CCTTAGATGATAAGTACTGCAGCTCC -3'
(R):5'- ACCACTTCTACTATGGAGCATGG -3'
|
Posted On |
2016-08-04 |