Incidental Mutation 'R0271:Pzp'
| ID |
35296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
038497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0271 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128496477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 252
(Y252N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
[ENSMUST00000143664]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032510
AA Change: Y252N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: Y252N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
126 |
219 |
8.8e-22 |
PFAM |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
A2M_N_2
|
458 |
606 |
6.18e-40 |
SMART |
|
A2M
|
750 |
840 |
2.27e-38 |
SMART |
|
Pfam:Thiol-ester_cl
|
973 |
1002 |
5.7e-19 |
PFAM |
|
Pfam:A2M_comp
|
1022 |
1284 |
1.6e-93 |
PFAM |
|
A2M_recep
|
1395 |
1482 |
6.47e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112132
AA Change: Y252N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: Y252N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
126 |
219 |
3.2e-23 |
PFAM |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
A2M_N_2
|
458 |
606 |
6.18e-40 |
SMART |
|
A2M
|
750 |
840 |
2.27e-38 |
SMART |
|
Pfam:Thiol-ester_cl
|
973 |
1003 |
4e-19 |
PFAM |
|
Pfam:A2M_comp
|
1022 |
1284 |
2.1e-90 |
PFAM |
|
A2M_recep
|
1395 |
1482 |
6.47e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143664
|
| SMART Domains |
Protein: ENSMUSP00000120114
Gene: ENSMUSG00000030359
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
126 |
212 |
4.8e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (65/65) |
| MGI Phenotype |
PHENOTYPE: Homozygotes mutant null mice show higher bone mineral density, hypoactivity, and decreased heart rate. Mice homozygous for a different null allele show resistance to the lethal effects of endotoxin, increased susceptibility to diet-induced acute pancreatitis, and altered LPS-induced febrile and cytokine responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
| Ampd2 |
C |
T |
3: 107,994,032 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
| C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
| Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
| Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
| Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
| Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
| Gm1110 |
A |
G |
9: 26,831,962 (GRCm39) |
F63S |
probably damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,747 (GRCm39) |
M274L |
probably benign |
Het |
| Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
| Nes |
G |
A |
3: 87,885,949 (GRCm39) |
E1359K |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
| Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
| Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
| Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
| Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
| Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
| Tpx2 |
A |
G |
2: 152,709,287 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
| Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
probably benign |
Het |
|
| Other mutations in Pzp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Pzp
|
APN |
6 |
128,493,872 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01470:Pzp
|
APN |
6 |
128,498,087 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01753:Pzp
|
APN |
6 |
128,479,146 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01878:Pzp
|
APN |
6 |
128,472,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02307:Pzp
|
APN |
6 |
128,466,049 (GRCm39) |
nonsense |
probably null |
|
|
IGL02338:Pzp
|
APN |
6 |
128,463,133 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02546:Pzp
|
APN |
6 |
128,471,662 (GRCm39) |
splice site |
probably benign |
|
|
IGL02598:Pzp
|
APN |
6 |
128,464,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02699:Pzp
|
APN |
6 |
128,464,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
lilibet
|
UTSW |
6 |
128,490,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P4748:Pzp
|
UTSW |
6 |
128,467,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Pzp
|
UTSW |
6 |
128,502,259 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4495001:Pzp
|
UTSW |
6 |
128,479,192 (GRCm39) |
missense |
probably benign |
|
|
R0157:Pzp
|
UTSW |
6 |
128,500,939 (GRCm39) |
nonsense |
probably null |
|
|
R0195:Pzp
|
UTSW |
6 |
128,464,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Pzp
|
UTSW |
6 |
128,466,119 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Pzp
|
UTSW |
6 |
128,466,119 (GRCm39) |
splice site |
probably benign |
|
|
R0299:Pzp
|
UTSW |
6 |
128,472,293 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Pzp
|
UTSW |
6 |
128,493,158 (GRCm39) |
unclassified |
probably benign |
|
|
R0968:Pzp
|
UTSW |
6 |
128,502,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1037:Pzp
|
UTSW |
6 |
128,496,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1074:Pzp
|
UTSW |
6 |
128,464,887 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1469:Pzp
|
UTSW |
6 |
128,489,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1469:Pzp
|
UTSW |
6 |
128,489,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1579:Pzp
|
UTSW |
6 |
128,500,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1646:Pzp
|
UTSW |
6 |
128,480,518 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1770:Pzp
|
UTSW |
6 |
128,462,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Pzp
|
UTSW |
6 |
128,467,535 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1786:Pzp
|
UTSW |
6 |
128,468,124 (GRCm39) |
splice site |
probably null |
|
|
R1854:Pzp
|
UTSW |
6 |
128,479,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Pzp
|
UTSW |
6 |
128,493,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2060:Pzp
|
UTSW |
6 |
128,460,673 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2081:Pzp
|
UTSW |
6 |
128,496,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2130:Pzp
|
UTSW |
6 |
128,468,124 (GRCm39) |
splice site |
probably null |
|
|
R2131:Pzp
|
UTSW |
6 |
128,468,124 (GRCm39) |
splice site |
probably null |
|
|
R2160:Pzp
|
UTSW |
6 |
128,502,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Pzp
|
UTSW |
6 |
128,465,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2328:Pzp
|
UTSW |
6 |
128,487,353 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2441:Pzp
|
UTSW |
6 |
128,466,731 (GRCm39) |
nonsense |
probably null |
|
|
R2866:Pzp
|
UTSW |
6 |
128,502,227 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2869:Pzp
|
UTSW |
6 |
128,462,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2869:Pzp
|
UTSW |
6 |
128,462,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2870:Pzp
|
UTSW |
6 |
128,462,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2870:Pzp
|
UTSW |
6 |
128,462,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2873:Pzp
|
UTSW |
6 |
128,462,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2876:Pzp
|
UTSW |
6 |
128,468,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Pzp
|
UTSW |
6 |
128,490,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Pzp
|
UTSW |
6 |
128,468,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Pzp
|
UTSW |
6 |
128,501,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5103:Pzp
|
UTSW |
6 |
128,479,192 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5193:Pzp
|
UTSW |
6 |
128,479,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5425:Pzp
|
UTSW |
6 |
128,466,011 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5465:Pzp
|
UTSW |
6 |
128,463,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Pzp
|
UTSW |
6 |
128,500,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Pzp
|
UTSW |
6 |
128,467,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5697:Pzp
|
UTSW |
6 |
128,502,152 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5854:Pzp
|
UTSW |
6 |
128,483,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Pzp
|
UTSW |
6 |
128,468,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Pzp
|
UTSW |
6 |
128,500,977 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6054:Pzp
|
UTSW |
6 |
128,490,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6153:Pzp
|
UTSW |
6 |
128,465,979 (GRCm39) |
missense |
probably benign |
|
|
R6465:Pzp
|
UTSW |
6 |
128,468,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6719:Pzp
|
UTSW |
6 |
128,501,046 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6722:Pzp
|
UTSW |
6 |
128,464,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Pzp
|
UTSW |
6 |
128,490,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7453:Pzp
|
UTSW |
6 |
128,463,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Pzp
|
UTSW |
6 |
128,464,496 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7878:Pzp
|
UTSW |
6 |
128,489,274 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7879:Pzp
|
UTSW |
6 |
128,465,979 (GRCm39) |
missense |
probably benign |
|
|
R8113:Pzp
|
UTSW |
6 |
128,490,694 (GRCm39) |
splice site |
probably null |
|
|
R8163:Pzp
|
UTSW |
6 |
128,489,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8471:Pzp
|
UTSW |
6 |
128,464,411 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8680:Pzp
|
UTSW |
6 |
128,473,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Pzp
|
UTSW |
6 |
128,471,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8844:Pzp
|
UTSW |
6 |
128,500,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Pzp
|
UTSW |
6 |
128,464,462 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9043:Pzp
|
UTSW |
6 |
128,471,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Pzp
|
UTSW |
6 |
128,502,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9205:Pzp
|
UTSW |
6 |
128,473,626 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9276:Pzp
|
UTSW |
6 |
128,499,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Pzp
|
UTSW |
6 |
128,499,128 (GRCm39) |
missense |
|
|
|
R9444:Pzp
|
UTSW |
6 |
128,487,362 (GRCm39) |
missense |
|
|
|
R9517:Pzp
|
UTSW |
6 |
128,489,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9721:Pzp
|
UTSW |
6 |
128,472,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCCCACATCAGCTTCGAC -3'
(R):5'- TCCAAAAGGTTCGCTGACTACTTTGTC -3'
Sequencing Primer
(F):5'- atttcttctccctactcctacatc -3'
(R):5'- TTGCACTTAGGATGAAGCCTGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation