Incidental Mutation 'R1126:Zp3r'
ID |
96116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
MMRRC Submission |
039199-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R1126 (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 G
at 130546079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 77
(L77P)
|
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 damaging
Transcript: ENSMUST00000039862
AA Change: L77P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: L77P
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 damaging
Transcript: ENSMUST00000128128
AA Change: L98P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: L98P
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 damaging
Transcript: ENSMUST00000142416
AA Change: L77P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: L77P
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: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
Exo5 |
A |
T |
4: 120,779,322 (GRCm39) |
I181N |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,081 (GRCm39) |
N90S |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,615,579 (GRCm39) |
C258R |
probably damaging |
Het |
Or5p53 |
A |
C |
7: 107,533,578 (GRCm39) |
M284L |
possibly damaging |
Het |
Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,984,476 (GRCm39) |
D92G |
probably benign |
Het |
Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
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 |
|
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 |
|
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'- GCATTGCCAACTGTCCTTTTCCAAA -3'
(R):5'- CGTGGTCCTTGCTCCGTAAACCTTA -3'
Sequencing Primer
(F):5'- gccatctcttcagcccc -3'
(R):5'- GAGATTCTCTCTCTCAAGGTTCAG -3'
|
Posted On |
2014-01-05 |