Incidental Mutation 'R6404:Zp2'
| ID |
518893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp2
|
| Ensembl Gene |
ENSMUSG00000030911 |
| Gene Name |
zona pellucida glycoprotein 2 |
| Synonyms |
Zp-2 |
| MMRRC Submission |
044549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119725995-119744514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119734765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 474
(H474Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033207]
[ENSMUST00000207726]
[ENSMUST00000208874]
|
| AlphaFold |
P20239 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033207
AA Change: H474Q
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: H474Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
ZP
|
364 |
630 |
1.06e-86 |
SMART |
|
low complexity region
|
655 |
668 |
N/A |
INTRINSIC |
|
transmembrane domain
|
684 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208122
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208874
AA Change: H474Q
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the zona pellucida family of glycoproteins that play an important role in the survival of growing oocytes, successful fertilization and the passage of early embryos through the oviduct. The encoded preproprotein undergoes proteolytic processing to generate the mature polypeptide that is incorporated into the extracellular matrix surrounding mouse oocytes. Mice lacking the encoded protein develop defective zonae pellucidae that disrupt folliculogenesis, fertility and development. [provided by RefSeq, Sep 2016]
PHENOTYPE: Female homozygous mutants exhibit a thin zona pellucida matrix in early ovarian follicles that becomes disassociated in pre-ovulatory follicles. Few oocytes are produced, and any that are fertilized fail to survive to the two-cell stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
| Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
| Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
| Frmd5 |
G |
A |
2: 121,379,699 (GRCm39) |
R70* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
| Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,361,825 (GRCm39) |
D199G |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,688 (GRCm39) |
Y83N |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
| Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
| Zfp57 |
A |
T |
17: 37,320,716 (GRCm39) |
H190L |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
|
| Other mutations in Zp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Zp2
|
APN |
7 |
119,732,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00707:Zp2
|
APN |
7 |
119,732,636 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00916:Zp2
|
APN |
7 |
119,737,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Zp2
|
APN |
7 |
119,737,548 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01845:Zp2
|
APN |
7 |
119,737,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Zp2
|
APN |
7 |
119,731,641 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02145:Zp2
|
APN |
7 |
119,739,074 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02155:Zp2
|
APN |
7 |
119,743,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02178:Zp2
|
APN |
7 |
119,732,973 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02646:Zp2
|
APN |
7 |
119,734,564 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03220:Zp2
|
APN |
7 |
119,736,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4687001:Zp2
|
UTSW |
7 |
119,741,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0138:Zp2
|
UTSW |
7 |
119,736,423 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0197:Zp2
|
UTSW |
7 |
119,742,799 (GRCm39) |
splice site |
probably benign |
|
|
R0519:Zp2
|
UTSW |
7 |
119,737,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Zp2
|
UTSW |
7 |
119,734,693 (GRCm39) |
splice site |
probably benign |
|
|
R0879:Zp2
|
UTSW |
7 |
119,734,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Zp2
|
UTSW |
7 |
119,742,799 (GRCm39) |
splice site |
probably benign |
|
|
R1160:Zp2
|
UTSW |
7 |
119,735,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1235:Zp2
|
UTSW |
7 |
119,737,566 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1753:Zp2
|
UTSW |
7 |
119,737,328 (GRCm39) |
missense |
probably benign |
|
|
R1883:Zp2
|
UTSW |
7 |
119,732,624 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1995:Zp2
|
UTSW |
7 |
119,734,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2196:Zp2
|
UTSW |
7 |
119,737,529 (GRCm39) |
missense |
probably benign |
|
|
R2850:Zp2
|
UTSW |
7 |
119,737,529 (GRCm39) |
missense |
probably benign |
|
|
R3715:Zp2
|
UTSW |
7 |
119,741,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3931:Zp2
|
UTSW |
7 |
119,731,580 (GRCm39) |
intron |
probably benign |
|
|
R4082:Zp2
|
UTSW |
7 |
119,734,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4731:Zp2
|
UTSW |
7 |
119,737,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4732:Zp2
|
UTSW |
7 |
119,737,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4733:Zp2
|
UTSW |
7 |
119,737,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4754:Zp2
|
UTSW |
7 |
119,737,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Zp2
|
UTSW |
7 |
119,734,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Zp2
|
UTSW |
7 |
119,737,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5392:Zp2
|
UTSW |
7 |
119,734,987 (GRCm39) |
nonsense |
probably null |
|
|
R5877:Zp2
|
UTSW |
7 |
119,732,562 (GRCm39) |
missense |
probably null |
0.94 |
|
R6390:Zp2
|
UTSW |
7 |
119,740,453 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6546:Zp2
|
UTSW |
7 |
119,731,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6622:Zp2
|
UTSW |
7 |
119,741,136 (GRCm39) |
missense |
probably benign |
|
|
R6622:Zp2
|
UTSW |
7 |
119,731,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6707:Zp2
|
UTSW |
7 |
119,733,145 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7274:Zp2
|
UTSW |
7 |
119,731,614 (GRCm39) |
makesense |
probably null |
|
|
R7275:Zp2
|
UTSW |
7 |
119,734,576 (GRCm39) |
splice site |
probably null |
|
|
R7541:Zp2
|
UTSW |
7 |
119,735,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Zp2
|
UTSW |
7 |
119,733,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Zp2
|
UTSW |
7 |
119,734,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Zp2
|
UTSW |
7 |
119,731,731 (GRCm39) |
missense |
unknown |
|
|
R7767:Zp2
|
UTSW |
7 |
119,736,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7771:Zp2
|
UTSW |
7 |
119,742,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8391:Zp2
|
UTSW |
7 |
119,726,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8872:Zp2
|
UTSW |
7 |
119,733,025 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8880:Zp2
|
UTSW |
7 |
119,742,835 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9673:Zp2
|
UTSW |
7 |
119,733,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Zp2
|
UTSW |
7 |
119,732,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Zp2
|
UTSW |
7 |
119,732,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zp2
|
UTSW |
7 |
119,734,402 (GRCm39) |
missense |
not run |
|
|
Z1177:Zp2
|
UTSW |
7 |
119,734,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zp2
|
UTSW |
7 |
119,734,402 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTTTCAGGACTGAGGTGC -3'
(R):5'- ATGCTCTCTGGGAAAACCCAC -3'
Sequencing Primer
(F):5'- CAGGCTGGCTGCAACATC -3'
(R):5'- TTGTATTCAGAAACAGCGAGTTCAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation