Incidental Mutation 'R6949:Zp3r'
ID |
543225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
045061-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6949 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130505632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 508
(S508R)
|
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: S508R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: S508R
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: S464R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: S464R
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: S443R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: S443R
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 95.1%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
G |
T |
3: 126,804,533 (GRCm39) |
D679E |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,953,058 (GRCm39) |
Y96N |
probably benign |
Het |
Cnksr3 |
T |
C |
10: 7,110,757 (GRCm39) |
I35V |
probably benign |
Het |
Col16a1 |
A |
G |
4: 129,953,116 (GRCm39) |
E424G |
probably damaging |
Het |
Ctsc |
G |
T |
7: 87,930,666 (GRCm39) |
G82W |
probably damaging |
Het |
Cxcr4 |
T |
C |
1: 128,517,352 (GRCm39) |
D101G |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,884,138 (GRCm39) |
N635K |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,382,913 (GRCm39) |
M282T |
probably damaging |
Het |
Dpysl4 |
G |
A |
7: 138,671,915 (GRCm39) |
E172K |
probably damaging |
Het |
Efcab3 |
A |
C |
11: 104,799,896 (GRCm39) |
T2931P |
probably damaging |
Het |
Eif2ak3 |
T |
C |
6: 70,855,829 (GRCm39) |
I211T |
probably damaging |
Het |
Fbxw22 |
A |
T |
9: 109,211,144 (GRCm39) |
W386R |
probably benign |
Het |
Garin1b |
T |
A |
6: 29,323,905 (GRCm39) |
I210N |
probably damaging |
Het |
Grm7 |
A |
G |
6: 110,623,265 (GRCm39) |
K146R |
probably benign |
Het |
Grm7 |
C |
A |
6: 111,472,690 (GRCm39) |
P843Q |
probably damaging |
Het |
Gtf2e2 |
A |
G |
8: 34,248,726 (GRCm39) |
D171G |
probably damaging |
Het |
Hyal5 |
T |
C |
6: 24,876,303 (GRCm39) |
S59P |
probably benign |
Het |
Il7r |
T |
A |
15: 9,508,090 (GRCm39) |
T411S |
probably damaging |
Het |
Kcp |
T |
A |
6: 29,484,611 (GRCm39) |
|
probably null |
Het |
Krcc1 |
T |
C |
6: 71,261,135 (GRCm39) |
Y56H |
probably benign |
Het |
Lmo2 |
T |
A |
2: 103,801,018 (GRCm39) |
M1K |
probably null |
Het |
Lrit3 |
G |
A |
3: 129,582,934 (GRCm39) |
T351I |
probably damaging |
Het |
Mcu |
T |
G |
10: 59,292,566 (GRCm39) |
T38P |
possibly damaging |
Het |
Mylk |
T |
A |
16: 34,820,688 (GRCm39) |
I89N |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,226,725 (GRCm39) |
C996S |
possibly damaging |
Het |
Npr2 |
A |
G |
4: 43,640,597 (GRCm39) |
E350G |
probably damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,792 (GRCm39) |
Y133C |
probably damaging |
Het |
Pald1 |
T |
C |
10: 61,156,996 (GRCm39) |
E818G |
probably benign |
Het |
Phf19 |
G |
T |
2: 34,794,143 (GRCm39) |
Q210K |
probably damaging |
Het |
Pomgnt1 |
G |
A |
4: 116,011,351 (GRCm39) |
V250M |
probably damaging |
Het |
Ppm1l |
T |
A |
3: 69,456,736 (GRCm39) |
C218S |
possibly damaging |
Het |
Prkdc |
G |
A |
16: 15,617,853 (GRCm39) |
R3228H |
probably benign |
Het |
Pros1 |
A |
T |
16: 62,744,938 (GRCm39) |
T518S |
probably benign |
Het |
Rdh8 |
T |
A |
9: 20,734,003 (GRCm39) |
V63D |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,386,470 (GRCm39) |
V196A |
possibly damaging |
Het |
Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
Scn11a |
A |
G |
9: 119,594,580 (GRCm39) |
V1271A |
probably benign |
Het |
Serac1 |
C |
A |
17: 6,102,090 (GRCm39) |
D395Y |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,012,771 (GRCm39) |
D2655G |
probably benign |
Het |
Tm4sf19 |
T |
C |
16: 32,224,676 (GRCm39) |
V8A |
probably benign |
Het |
Usp3 |
A |
T |
9: 66,427,972 (GRCm39) |
D334E |
probably benign |
Het |
Uty |
C |
T |
Y: 1,240,000 (GRCm39) |
|
probably null |
Het |
Vmn2r7 |
T |
C |
3: 64,598,542 (GRCm39) |
N672D |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,818,100 (GRCm39) |
L751H |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,254,616 (GRCm39) |
S300G |
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 |
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 |
|
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'- TGGGTCTAAGAAACCCTCAAC -3'
(R):5'- CGAGCATGCCATGAAAGGTG -3'
Sequencing Primer
(F):5'- TTCTGGATCCAGCCACAGAG -3'
(R):5'- GTGTGTCTCAAACCAATGGTC -3'
|
Posted On |
2018-11-28 |