Incidental Mutation 'R7346:Zp3r'
| ID |
570174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp3r
|
| Ensembl Gene |
ENSMUSG00000042554 |
| Gene Name |
zona pellucida 3 receptor |
| Synonyms |
SP56 |
| MMRRC Submission |
045373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130511217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 387
(S387F)
|
| 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 benign
Transcript: ENSMUST00000039862
AA Change: S387F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: S387F
| 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: S343F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: S343F
| 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: S322F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: S322F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,914,587 (GRCm39) |
P52S |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,620,420 (GRCm39) |
E302G |
probably damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,762,070 (GRCm39) |
L1255H |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,875,733 (GRCm39) |
I236N |
probably benign |
Het |
| As3mt |
T |
C |
19: 46,708,891 (GRCm39) |
F295S |
probably damaging |
Het |
| Bmp5 |
G |
A |
9: 75,780,642 (GRCm39) |
R313Q |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,394 (GRCm39) |
S191T |
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,080,852 (GRCm39) |
|
probably null |
Het |
| Cpz |
T |
C |
5: 35,675,000 (GRCm39) |
E83G |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,715,434 (GRCm39) |
I133T |
probably benign |
Het |
| Dars2 |
C |
T |
1: 160,874,342 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,788,798 (GRCm39) |
V579D |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,602,076 (GRCm39) |
A2038E |
probably damaging |
Het |
| Eaf1 |
A |
G |
14: 31,216,777 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,828,524 (GRCm39) |
I6774L |
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,432 (GRCm39) |
F320L |
possibly damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,693 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,797,104 (GRCm39) |
H2211Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,559,496 (GRCm39) |
I2385T |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,438,094 (GRCm39) |
M398L |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,293,249 (GRCm39) |
E1273K |
probably damaging |
Het |
| Inpp5j |
G |
A |
11: 3,451,065 (GRCm39) |
T528I |
probably damaging |
Het |
| Kbtbd6 |
C |
T |
14: 79,690,627 (GRCm39) |
P441S |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,753,855 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,358,306 (GRCm39) |
L139P |
probably damaging |
Het |
| Klb |
C |
T |
5: 65,505,974 (GRCm39) |
Q74* |
probably null |
Het |
| L3mbtl1 |
G |
A |
2: 162,808,926 (GRCm39) |
V600I |
probably benign |
Het |
| Lcp1 |
C |
T |
14: 75,447,946 (GRCm39) |
A317V |
possibly damaging |
Het |
| Lipc |
C |
T |
9: 70,720,029 (GRCm39) |
G326D |
probably damaging |
Het |
| Mbnl2 |
T |
A |
14: 120,616,694 (GRCm39) |
F103I |
probably benign |
Het |
| Mdm1 |
G |
T |
10: 118,000,193 (GRCm39) |
E609* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,744,650 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,766,008 (GRCm39) |
V1424A |
possibly damaging |
Het |
| Mocs2 |
G |
T |
13: 114,964,710 (GRCm39) |
|
probably null |
Het |
| Morc1 |
C |
T |
16: 48,451,263 (GRCm39) |
|
probably null |
Het |
| Mpc2 |
T |
A |
1: 165,307,080 (GRCm39) |
W94R |
probably damaging |
Het |
| Mrm3 |
G |
A |
11: 76,141,002 (GRCm39) |
V337I |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,536,433 (GRCm39) |
H133R |
probably benign |
Het |
| Ncam2 |
G |
T |
16: 81,420,256 (GRCm39) |
G810V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,373,090 (GRCm39) |
E1052G |
possibly damaging |
Het |
| Nlrp12 |
C |
T |
7: 3,297,887 (GRCm39) |
V95M |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,090,244 (GRCm39) |
N438D |
possibly damaging |
Het |
| Nsun4 |
C |
A |
4: 115,909,035 (GRCm39) |
M508I |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,461,650 (GRCm39) |
S40P |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,082,178 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
G |
T |
10: 106,693,356 (GRCm39) |
M620I |
possibly damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,695,617 (GRCm39) |
I47N |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,028 (GRCm39) |
D489G |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,971,849 (GRCm39) |
Y1124N |
probably benign |
Het |
| Ptpra |
T |
G |
2: 130,395,320 (GRCm39) |
Y808D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,020,651 (GRCm39) |
F558Y |
possibly damaging |
Het |
| Rnf215 |
T |
A |
11: 4,089,792 (GRCm39) |
C268* |
probably null |
Het |
| Slc25a13 |
T |
C |
6: 6,181,100 (GRCm39) |
E28G |
possibly damaging |
Het |
| Slc38a8 |
G |
T |
8: 120,226,554 (GRCm39) |
Y78* |
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,775,000 (GRCm38) |
M810T |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,150,591 (GRCm39) |
V40A |
possibly damaging |
Het |
| Sobp |
A |
T |
10: 42,898,831 (GRCm39) |
S251R |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,015 (GRCm39) |
S371L |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,180 (GRCm39) |
T133A |
possibly damaging |
Het |
| Tbc1d20 |
A |
G |
2: 152,146,881 (GRCm39) |
D90G |
probably benign |
Het |
| Tek |
T |
A |
4: 94,715,533 (GRCm39) |
I408K |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,382,077 (GRCm39) |
F150S |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tspan17 |
C |
G |
13: 54,940,434 (GRCm39) |
L34V |
probably benign |
Het |
| Vmn1r238 |
A |
T |
18: 3,123,151 (GRCm39) |
Y88N |
probably damaging |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,964 (GRCm39) |
I60T |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,029 (GRCm39) |
M313T |
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 |
|
R5554:Zp3r
|
UTSW |
1 |
130,511,208 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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'- TGGATGAACAATTCCAAACTCGC -3'
(R):5'- ATGTCTTCCATAGGTAGAGTGCG -3'
Sequencing Primer
(F):5'- ACTCGCTTCTTTTTAAAAAGTTGCTC -3'
(R):5'- AGTGCGAACTTTGGCCAATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation