Incidental Mutation 'R5554:Zp3r'
| ID |
435255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp3r
|
| Ensembl Gene |
ENSMUSG00000042554 |
| Gene Name |
zona pellucida 3 receptor |
| Synonyms |
SP56 |
| MMRRC Submission |
043111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R5554 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130511208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 325
(M325K)
|
| 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 benign
Transcript: ENSMUST00000039862
AA Change: M390K
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: M390K
| 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 benign
Transcript: ENSMUST00000128128
AA Change: M346K
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: M346K
| 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 benign
Transcript: ENSMUST00000142416
AA Change: M325K
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: M325K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
| Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
| BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
| Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
| Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
| Fndc3b |
G |
T |
3: 27,697,162 (GRCm39) |
P17T |
possibly damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
| Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
| Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
| Gm12258 |
T |
A |
11: 58,749,294 (GRCm39) |
S156R |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
| Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
| Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
| Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
| Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
| Patj |
T |
A |
4: 98,342,633 (GRCm39) |
S576T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
| Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
| Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
| R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,857,406 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
| Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
| Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
| Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
| Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
| Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,339,860 (GRCm39) |
N38K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
| Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
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 |
|
|
R1126:Zp3r
|
UTSW |
1 |
130,546,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTTTGATGGTGCCAAGGTAAC -3'
(R):5'- GTCTTTCCCACAGGCTGAAAC -3'
Sequencing Primer
(F):5'- TGGATGAACAATTCCAAACTCGCTTC -3'
(R):5'- TTTCCCACAGGCTGAAACATGTAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation