Incidental Mutation 'R1680:Zp3r'
ID |
188384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
039716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R1680 (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 T
at 130510617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 433
(N433K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045443
(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: N433K
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: N433K
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 benign
Transcript: ENSMUST00000128128
AA Change: N389K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: N389K
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: N368K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: N368K
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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,327 (GRCm39) |
H2870Q |
probably benign |
Het |
Arhgef33 |
C |
T |
17: 80,655,080 (GRCm39) |
S95F |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,106,521 (GRCm39) |
D827V |
probably damaging |
Het |
Bcat1 |
T |
G |
6: 144,985,354 (GRCm39) |
D96A |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,855,741 (GRCm39) |
I184L |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,543,585 (GRCm39) |
L415M |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,183 (GRCm39) |
V617A |
probably benign |
Het |
Col22a1 |
G |
A |
15: 71,671,210 (GRCm39) |
A1050V |
unknown |
Het |
Col5a3 |
C |
T |
9: 20,695,964 (GRCm39) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,604,566 (GRCm39) |
T1059I |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,838,545 (GRCm39) |
V272A |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,923,361 (GRCm39) |
Q187R |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,497,103 (GRCm39) |
Y710H |
probably benign |
Het |
Eef1a2 |
A |
T |
2: 180,794,734 (GRCm39) |
M155K |
possibly damaging |
Het |
Entpd8 |
G |
A |
2: 24,974,036 (GRCm39) |
C331Y |
probably damaging |
Het |
Erc1 |
A |
C |
6: 119,552,722 (GRCm39) |
L1072R |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,824,291 (GRCm39) |
Y482C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,331,212 (GRCm39) |
S155P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,699,491 (GRCm39) |
S617P |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,753,567 (GRCm39) |
R840G |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,390,953 (GRCm39) |
Y299H |
possibly damaging |
Het |
Ints7 |
T |
G |
1: 191,353,274 (GRCm39) |
|
probably null |
Het |
Ireb2 |
C |
T |
9: 54,788,802 (GRCm39) |
T92I |
probably damaging |
Het |
Itprid1 |
C |
T |
6: 55,945,751 (GRCm39) |
T824I |
probably damaging |
Het |
Kcnj8 |
A |
T |
6: 142,515,915 (GRCm39) |
L64* |
probably null |
Het |
Mapk8ip3 |
A |
G |
17: 25,119,985 (GRCm39) |
V983A |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,643,556 (GRCm39) |
D985G |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,936,604 (GRCm39) |
S1307R |
probably benign |
Het |
Mtcl3 |
A |
T |
10: 29,072,835 (GRCm39) |
Q709L |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,825 (GRCm39) |
D222G |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,441,824 (GRCm39) |
S295* |
probably null |
Het |
Nlrp12 |
T |
A |
7: 3,289,804 (GRCm39) |
D236V |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
Oasl1 |
A |
G |
5: 115,074,003 (GRCm39) |
D304G |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,940 (GRCm39) |
D271G |
possibly damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
Or8g22 |
T |
C |
9: 38,958,296 (GRCm39) |
I140V |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,753,505 (GRCm39) |
V124I |
probably benign |
Het |
Patz1 |
A |
G |
11: 3,257,812 (GRCm39) |
K604E |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,684,998 (GRCm39) |
V793E |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,108,231 (GRCm39) |
|
probably null |
Het |
Plxnc1 |
A |
C |
10: 94,677,413 (GRCm39) |
L938R |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 79,161,460 (GRCm39) |
A381D |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,087 (GRCm39) |
L685P |
possibly damaging |
Het |
Pxn |
T |
A |
5: 115,690,206 (GRCm39) |
V383E |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,016,703 (GRCm39) |
L632P |
probably damaging |
Het |
Rnf135 |
T |
A |
11: 80,087,707 (GRCm39) |
S219T |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,682,262 (GRCm39) |
D2039G |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Slc5a6 |
A |
G |
5: 31,199,988 (GRCm39) |
Y131H |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,145,391 (GRCm39) |
I492T |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,211,442 (GRCm39) |
K993E |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,109,371 (GRCm39) |
I75L |
possibly damaging |
Het |
Syngap1 |
T |
C |
17: 27,171,553 (GRCm39) |
S46P |
possibly damaging |
Het |
Tfcp2l1 |
T |
A |
1: 118,603,335 (GRCm39) |
F458I |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,087,840 (GRCm39) |
V102A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,942,324 (GRCm39) |
S34P |
unknown |
Het |
Txlnb |
G |
T |
10: 17,718,981 (GRCm39) |
G604V |
probably benign |
Het |
Ube2q1 |
A |
G |
3: 89,683,483 (GRCm39) |
T143A |
probably benign |
Het |
Unc80 |
C |
T |
1: 66,542,828 (GRCm39) |
R361* |
probably null |
Het |
Vcan |
T |
C |
13: 89,851,666 (GRCm39) |
D1098G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,806 (GRCm39) |
T116S |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,345,249 (GRCm39) |
R6K |
probably benign |
Het |
Zan |
T |
A |
5: 137,401,312 (GRCm39) |
T4136S |
unknown |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp606 |
A |
T |
7: 12,227,898 (GRCm39) |
H615L |
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 |
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 |
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'- TCCAAGCTATGCAAGTGCTGACTG -3'
(R):5'- AGCTTTTGCCAGGGGACATAACAC -3'
Sequencing Primer
(F):5'- CCTCAGAGCAGAGATAAGTAACTTC -3'
(R):5'- TATTTGTCCATCCAGGGGGAAAG -3'
|
Posted On |
2014-05-09 |