Incidental Mutation 'R5455:Zpbp2'
ID |
432726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zpbp2
|
Ensembl Gene |
ENSMUSG00000017195 |
Gene Name |
zona pellucida binding protein 2 |
Synonyms |
1700017D11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R5455 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98441923-98449491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98448429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 249
(V249L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017339]
[ENSMUST00000081033]
[ENSMUST00000107509]
[ENSMUST00000107511]
[ENSMUST00000107513]
|
AlphaFold |
Q6X786 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017339
AA Change: V271L
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000017339 Gene: ENSMUSG00000017195 AA Change: V271L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Sp38
|
55 |
326 |
9.6e-142 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081033
AA Change: V198L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000079822 Gene: ENSMUSG00000017195 AA Change: V198L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Sp38
|
55 |
135 |
2e-35 |
PFAM |
Pfam:Sp38
|
134 |
253 |
1.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107509
AA Change: V217L
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103133 Gene: ENSMUSG00000017195 AA Change: V217L
Domain | Start | End | E-Value | Type |
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107511
AA Change: V217L
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103135 Gene: ENSMUSG00000017195 AA Change: V217L
Domain | Start | End | E-Value | Type |
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107513
AA Change: V249L
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103137 Gene: ENSMUSG00000017195 AA Change: V249L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Sp38
|
33 |
304 |
4.5e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126236
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null mutation display reduced fecundity, mild teratozoospermia, and delayed fertilization. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
|
Other mutations in Zpbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00819:Zpbp2
|
APN |
11 |
98,448,418 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Zpbp2
|
APN |
11 |
98,446,367 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02612:Zpbp2
|
APN |
11 |
98,446,343 (GRCm39) |
missense |
probably benign |
0.01 |
R0709:Zpbp2
|
UTSW |
11 |
98,444,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R0959:Zpbp2
|
UTSW |
11 |
98,448,451 (GRCm39) |
missense |
probably benign |
0.16 |
R1445:Zpbp2
|
UTSW |
11 |
98,444,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Zpbp2
|
UTSW |
11 |
98,445,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R3621:Zpbp2
|
UTSW |
11 |
98,443,382 (GRCm39) |
missense |
probably benign |
0.08 |
R4328:Zpbp2
|
UTSW |
11 |
98,448,432 (GRCm39) |
missense |
probably benign |
0.06 |
R4685:Zpbp2
|
UTSW |
11 |
98,442,117 (GRCm39) |
intron |
probably benign |
|
R4957:Zpbp2
|
UTSW |
11 |
98,442,150 (GRCm39) |
critical splice donor site |
probably null |
|
R5395:Zpbp2
|
UTSW |
11 |
98,449,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R5633:Zpbp2
|
UTSW |
11 |
98,445,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Zpbp2
|
UTSW |
11 |
98,442,236 (GRCm39) |
intron |
probably benign |
|
R5837:Zpbp2
|
UTSW |
11 |
98,442,097 (GRCm39) |
start gained |
probably benign |
|
R7073:Zpbp2
|
UTSW |
11 |
98,443,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8879:Zpbp2
|
UTSW |
11 |
98,445,446 (GRCm39) |
missense |
probably benign |
0.05 |
R9234:Zpbp2
|
UTSW |
11 |
98,443,398 (GRCm39) |
missense |
probably damaging |
0.96 |
R9348:Zpbp2
|
UTSW |
11 |
98,442,141 (GRCm39) |
intron |
probably benign |
|
R9358:Zpbp2
|
UTSW |
11 |
98,444,774 (GRCm39) |
missense |
probably benign |
0.38 |
|
Predicted Primers |
PCR Primer
(F):5'- TACGGCCTGTGATTCATGAG -3'
(R):5'- AGAACACGGTGGAAATGTTTTG -3'
Sequencing Primer
(F):5'- CCTGTGATTCATGAGAAGGATTTTG -3'
(R):5'- ATTGCTGTGCAGACCTTC -3'
|
Posted On |
2016-10-06 |