Incidental Mutation 'R7399:Zp3r'
| ID |
573999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp3r
|
| Ensembl Gene |
ENSMUSG00000042554 |
| Gene Name |
zona pellucida 3 receptor |
| Synonyms |
SP56 |
| MMRRC Submission |
045481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R7399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130576713-130629621 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 130577053 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 536
(V536L)
|
| 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 damaging
Transcript: ENSMUST00000039862
AA Change: V536L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: V536L
| 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: V492L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: V492L
| 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: V471L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: V471L
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,260,679 |
V801G |
possibly damaging |
Het |
| Actbl2 |
T |
A |
13: 111,255,593 |
M154K |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,504,466 |
|
probably null |
Het |
| Arfgef1 |
T |
A |
1: 10,180,897 |
T888S |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,169,060 |
P10L |
possibly damaging |
Het |
| Bcap29 |
A |
G |
12: 31,630,882 |
I35T |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,664,857 |
254 |
probably null |
Het |
| C87499 |
C |
A |
4: 88,627,965 |
R380L |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,194,654 |
D458G |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,305,667 |
K1104R |
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,438,378 |
N729S |
probably damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,991,829 |
M51K |
possibly damaging |
Het |
| Dcdc2b |
A |
G |
4: 129,609,629 |
L270P |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 149,036,483 |
H639N |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,125,785 |
E1182G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,027,477 |
T2385P |
probably benign |
Het |
| Dok7 |
T |
C |
5: 35,066,471 |
V81A |
probably damaging |
Het |
| Dtx1 |
T |
A |
5: 120,682,393 |
M494L |
possibly damaging |
Het |
| Foxj1 |
A |
T |
11: 116,332,254 |
L241Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,236,149 |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 24,003,880 |
T201S |
probably benign |
Het |
| Jup |
G |
T |
11: 100,378,351 |
T412K |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,322,059 |
S954F |
probably damaging |
Het |
| Klhdc7b |
A |
C |
15: 89,388,644 |
K585T |
possibly damaging |
Het |
| Klk7 |
T |
A |
7: 43,812,000 |
S14T |
probably benign |
Het |
| Lama4 |
G |
A |
10: 39,047,948 |
E451K |
probably damaging |
Het |
| Ldhb |
A |
G |
6: 142,495,673 |
C164R |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,610,090 |
D239N |
|
Het |
| Mgam |
T |
A |
6: 40,666,854 |
V572E |
probably damaging |
Het |
| Mrgprb2 |
G |
T |
7: 48,552,142 |
N278K |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,911,823 |
Y206H |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,262,291 |
S467G |
unknown |
Het |
| Mysm1 |
T |
A |
4: 94,961,727 |
I447L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,852,934 |
E494G |
possibly damaging |
Het |
| Nol10 |
T |
G |
12: 17,402,173 |
V376G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,214,676 |
I1032N |
probably damaging |
Het |
| Olfr1002 |
T |
A |
2: 85,647,424 |
D299V |
possibly damaging |
Het |
| Olfr1100 |
G |
A |
2: 86,978,157 |
T213I |
probably benign |
Het |
| Olfr1170 |
A |
T |
2: 88,225,022 |
Y3* |
probably null |
Het |
| Olfr1450 |
A |
G |
19: 12,954,447 |
N286S |
probably damaging |
Het |
| Olfr449 |
T |
G |
6: 42,838,746 |
Y288* |
probably null |
Het |
| Olfr455 |
A |
G |
6: 42,538,728 |
F98S |
possibly damaging |
Het |
| Olfr617 |
A |
T |
7: 103,584,381 |
I120L |
possibly damaging |
Het |
| Olfr782 |
A |
T |
10: 129,350,557 |
|
probably benign |
Het |
| Olfr996 |
A |
G |
2: 85,579,296 |
D19G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 144,195,281 |
K254E |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,236,279 |
D694E |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,293,510 |
Y1210N |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,440,863 |
M293V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,962,867 |
I451V |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,634,376 |
F272S |
probably damaging |
Het |
| Ptgdr |
A |
T |
14: 44,858,232 |
|
probably null |
Het |
| Ptprf |
C |
T |
4: 118,226,523 |
V788I |
probably benign |
Het |
| Ralbp1 |
C |
T |
17: 65,854,148 |
V467I |
probably benign |
Het |
| Ralgds |
A |
C |
2: 28,543,655 |
Q229P |
possibly damaging |
Het |
| Recql |
T |
C |
6: 142,374,884 |
D146G |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,051,367 |
N493S |
probably damaging |
Het |
| Rfxank |
C |
T |
8: 70,135,286 |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,486,530 |
M1704K |
probably damaging |
Het |
| Slc7a7 |
G |
T |
14: 54,374,268 |
A316E |
possibly damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,091,068 |
C538S |
probably benign |
Het |
| Spert |
A |
G |
14: 75,592,637 |
S39P |
probably benign |
Het |
| Stard6 |
T |
C |
18: 70,498,647 |
|
probably null |
Het |
| Strip2 |
T |
A |
6: 29,927,613 |
M219K |
possibly damaging |
Het |
| Tcam1 |
T |
C |
11: 106,284,085 |
V122A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,869,690 |
V236A |
possibly damaging |
Het |
| Tmem201 |
A |
T |
4: 149,731,097 |
I132N |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 64,020,657 |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,845,513 |
T25A |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,244,503 |
|
probably null |
Het |
| Wdfy4 |
A |
C |
14: 33,068,906 |
V2188G |
|
Het |
| Zfp623 |
T |
C |
15: 75,947,398 |
S68P |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,119,155 |
C497S |
probably damaging |
Het |
| Zkscan2 |
C |
T |
7: 123,480,104 |
E877K |
probably damaging |
Het |
|
| Other mutations in Zp3r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Zp3r
|
APN |
1 |
130,619,356 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01783:Zp3r
|
APN |
1 |
130,598,866 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL01820:Zp3r
|
APN |
1 |
130,598,920 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01959:Zp3r
|
APN |
1 |
130,591,451 (GRCm38) |
nonsense |
probably null |
|
|
IGL01978:Zp3r
|
APN |
1 |
130,598,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02232:Zp3r
|
APN |
1 |
130,596,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02290:Zp3r
|
APN |
1 |
130,619,365 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02878:Zp3r
|
APN |
1 |
130,582,851 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02960:Zp3r
|
APN |
1 |
130,583,438 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
BB006:Zp3r
|
UTSW |
1 |
130,591,480 (GRCm38) |
missense |
probably benign |
0.31 |
|
BB016:Zp3r
|
UTSW |
1 |
130,591,480 (GRCm38) |
missense |
probably benign |
0.31 |
|
PIT4403001:Zp3r
|
UTSW |
1 |
130,582,872 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0433:Zp3r
|
UTSW |
1 |
130,577,133 (GRCm38) |
splice site |
probably benign |
|
|
R0491:Zp3r
|
UTSW |
1 |
130,618,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0781:Zp3r
|
UTSW |
1 |
130,577,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1110:Zp3r
|
UTSW |
1 |
130,577,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1126:Zp3r
|
UTSW |
1 |
130,618,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1295:Zp3r
|
UTSW |
1 |
130,591,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1680:Zp3r
|
UTSW |
1 |
130,582,880 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1728:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1728:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1729:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1729:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1730:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1730:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1739:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1739:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1762:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1762:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1783:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1783:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1784:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1784:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1785:Zp3r
|
UTSW |
1 |
130,596,814 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1785:Zp3r
|
UTSW |
1 |
130,619,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3942:Zp3r
|
UTSW |
1 |
130,577,054 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4429:Zp3r
|
UTSW |
1 |
130,591,391 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4571:Zp3r
|
UTSW |
1 |
130,578,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4626:Zp3r
|
UTSW |
1 |
130,615,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4647:Zp3r
|
UTSW |
1 |
130,577,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:Zp3r
|
UTSW |
1 |
130,582,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4815:Zp3r
|
UTSW |
1 |
130,598,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5355:Zp3r
|
UTSW |
1 |
130,596,781 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5554:Zp3r
|
UTSW |
1 |
130,583,471 (GRCm38) |
missense |
probably benign |
0.42 |
|
R5629:Zp3r
|
UTSW |
1 |
130,582,879 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6154:Zp3r
|
UTSW |
1 |
130,598,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6173:Zp3r
|
UTSW |
1 |
130,591,568 (GRCm38) |
splice site |
probably null |
|
|
R6949:Zp3r
|
UTSW |
1 |
130,577,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7346:Zp3r
|
UTSW |
1 |
130,583,480 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7929:Zp3r
|
UTSW |
1 |
130,591,480 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7944:Zp3r
|
UTSW |
1 |
130,596,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Zp3r
|
UTSW |
1 |
130,596,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8367:Zp3r
|
UTSW |
1 |
130,598,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8742:Zp3r
|
UTSW |
1 |
130,583,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCCAAAACCTTTTAACAG -3'
(R):5'- AACCTGTTAGGATGCAAAGTCTC -3'
Sequencing Primer
(F):5'- CCCAAAACCTTTTAACAGGAGTGGTG -3'
(R):5'- AGGATGCAAAGTCTCTCCTGATTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation