Incidental Mutation 'R4815:Zp3r'
| ID |
369689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp3r
|
| Ensembl Gene |
ENSMUSG00000042554 |
| Gene Name |
zona pellucida 3 receptor |
| Synonyms |
SP56 |
| MMRRC Submission |
042433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130526649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 185
(Y185N)
|
| 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 damaging
Transcript: ENSMUST00000039862
AA Change: Y185N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: Y185N
| 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
|
| 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 benign
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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
96% (76/79) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
T |
18: 65,483,026 (GRCm39) |
N327K |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,410 (GRCm39) |
T675A |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,106,296 (GRCm39) |
T1516A |
probably benign |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,887 (GRCm39) |
V18A |
probably benign |
Het |
| Caap1 |
A |
G |
4: 94,389,497 (GRCm39) |
V279A |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,879,591 (GRCm39) |
D21G |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,713,458 (GRCm39) |
S1166P |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,635,219 (GRCm39) |
H387L |
probably benign |
Het |
| Chp2 |
G |
A |
7: 121,820,123 (GRCm39) |
R91Q |
probably damaging |
Het |
| Chuk |
C |
A |
19: 44,065,686 (GRCm39) |
G703* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,751,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,839 (GRCm39) |
V270A |
possibly damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,483 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,028,256 (GRCm39) |
V411D |
unknown |
Het |
| Dkk2 |
C |
T |
3: 131,879,546 (GRCm39) |
A75V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnase2a |
T |
C |
8: 85,636,506 (GRCm39) |
V187A |
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,461,289 (GRCm39) |
M193V |
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,477 (GRCm39) |
Q908L |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,660 (GRCm39) |
M119V |
possibly damaging |
Het |
| Ice2 |
C |
T |
9: 69,314,400 (GRCm39) |
R50C |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,510,403 (GRCm39) |
E186V |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,858,517 (GRCm39) |
K166E |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,675,223 (GRCm39) |
L995Q |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,582 (GRCm39) |
C209S |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,732,553 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,739 (GRCm39) |
L1465F |
probably benign |
Het |
| Map3k7 |
C |
A |
4: 31,988,592 (GRCm39) |
T247N |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,097 (GRCm39) |
Q72P |
possibly damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,443 (GRCm39) |
Y335C |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,291,641 (GRCm39) |
N19K |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,715,295 (GRCm39) |
R541Q |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,413 (GRCm39) |
T735A |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,490,194 (GRCm39) |
H511L |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,150,233 (GRCm39) |
E613D |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,338,037 (GRCm39) |
S247P |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,240,102 (GRCm39) |
V28A |
probably benign |
Het |
| Odf2 |
A |
C |
2: 29,792,252 (GRCm39) |
E155D |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,250,597 (GRCm39) |
C294R |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,444 (GRCm39) |
P3S |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,561 (GRCm39) |
N290S |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,658 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,247 (GRCm39) |
V232I |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,940,352 (GRCm39) |
I439T |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,861 (GRCm39) |
V427A |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,552,757 (GRCm39) |
C128* |
probably null |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,024 (GRCm39) |
V151A |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,044,726 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,448 (GRCm39) |
I183V |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,422 (GRCm39) |
D112E |
probably damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,950,218 (GRCm39) |
V103I |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,009 (GRCm39) |
I183F |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,613,249 (GRCm39) |
K141N |
unknown |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,909 (GRCm39) |
|
probably benign |
Het |
| Tdpoz6 |
C |
T |
3: 93,599,593 (GRCm39) |
V259M |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,759 (GRCm39) |
L1498P |
probably damaging |
Het |
| Tgfbi |
T |
C |
13: 56,779,933 (GRCm39) |
M494T |
probably benign |
Het |
| Tox |
A |
G |
4: 6,823,033 (GRCm39) |
S95P |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,274,359 (GRCm39) |
V163I |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,700,412 (GRCm39) |
S2P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,546,429 (GRCm39) |
M32328T |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,040 (GRCm39) |
N289K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,213,210 (GRCm39) |
A847T |
probably damaging |
Het |
| Xndc1 |
G |
A |
7: 101,722,523 (GRCm39) |
G63R |
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,018,307 (GRCm39) |
S1330G |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,864 (GRCm39) |
K949N |
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 |
|
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 |
|
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'- AGTGGCCTGCACCTTATTCC -3'
(R):5'- AAGGAGTTGACTGGAGTGATTCTC -3'
Sequencing Primer
(F):5'- GTGGCCTGCACCTTATTCCTATAAAC -3'
(R):5'- TCTCTCCCAGAATGTGTAAGTAAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation