Incidental Mutation 'R6388:Zp3'
| ID |
515632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp3
|
| Ensembl Gene |
ENSMUSG00000004948 |
| Gene Name |
zona pellucida glycoprotein 3 |
| Synonyms |
Zp-3 |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136008959-136017478 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136011548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 122
(V122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005073]
|
| AlphaFold |
P10761 |
| PDB Structure |
ZP-N domain of mammalian sperm receptor ZP3 (crystal form I) [X-RAY DIFFRACTION]
ZP-N domain of mammalian sperm receptor ZP3 (crystal form II) [X-RAY DIFFRACTION]
ZP-N domain of mammalian sperm receptor ZP3 (crystal form III) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005073
AA Change: V122A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000005073
Gene: ENSMUSG00000004948
AA Change: V122A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
ZP
|
45 |
304 |
1.22e-68 |
SMART |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131563
AA Change: V110A
|
| SMART Domains |
Protein: ENSMUSP00000120447
Gene: ENSMUSG00000004948
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
35 |
136 |
6.4e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0927 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous female mutants are infertile. In these females oocytes lack a zona pellucida and cumulus-oocyte complexes are disrupted. Oocytes of heterozygous females have a thin zona, but females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
|
| Other mutations in Zp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Zp3
|
APN |
5 |
136,013,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02563:Zp3
|
APN |
5 |
136,016,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03185:Zp3
|
APN |
5 |
136,011,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4280001:Zp3
|
UTSW |
5 |
136,013,318 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0646:Zp3
|
UTSW |
5 |
136,013,210 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1454:Zp3
|
UTSW |
5 |
136,013,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Zp3
|
UTSW |
5 |
136,009,135 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3415:Zp3
|
UTSW |
5 |
136,014,514 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4599:Zp3
|
UTSW |
5 |
136,013,089 (GRCm39) |
nonsense |
probably null |
|
|
R4987:Zp3
|
UTSW |
5 |
136,016,359 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Zp3
|
UTSW |
5 |
136,017,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6587:Zp3
|
UTSW |
5 |
136,016,352 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6629:Zp3
|
UTSW |
5 |
136,016,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7438:Zp3
|
UTSW |
5 |
136,011,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Zp3
|
UTSW |
5 |
136,011,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Zp3
|
UTSW |
5 |
136,013,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Zp3
|
UTSW |
5 |
136,014,418 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8421:Zp3
|
UTSW |
5 |
136,017,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Zp3
|
UTSW |
5 |
136,013,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Zp3
|
UTSW |
5 |
136,016,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACTGGCCAGCAGAGAGC -3'
(R):5'- GCTGCCTAACCATTCACACATG -3'
Sequencing Primer
(F):5'- CAGAGAGCAGCAGAGGGC -3'
(R):5'- CTTGCAGGCACCCATAT -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation