Incidental Mutation 'R0239:Pzp'
ID |
59220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pzp
|
Ensembl Gene |
ENSMUSG00000030359 |
Gene Name |
PZP, alpha-2-macroglobulin like |
Synonyms |
|
MMRRC Submission |
038477-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R0239 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 128466119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
AlphaFold |
Q61838 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032510
|
SMART Domains |
Protein: ENSMUSP00000032510 Gene: ENSMUSG00000030359
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 benign
Transcript: ENSMUST00000112132
|
SMART Domains |
Protein: ENSMUSP00000107760 Gene: ENSMUSG00000030359
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 |
noncoding transcript
Transcript: ENSMUST00000203753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204291
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
Validation Efficiency |
98% (81/83) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
C |
A |
2: 131,388,134 (GRCm39) |
V474F |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
Ash1l |
A |
G |
3: 88,974,529 (GRCm39) |
D2618G |
possibly damaging |
Het |
Atp6v1c2 |
C |
A |
12: 17,344,676 (GRCm39) |
|
probably null |
Het |
Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,228,187 (GRCm39) |
W882R |
probably damaging |
Het |
Cd72 |
A |
G |
4: 43,453,163 (GRCm39) |
V91A |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,586,493 (GRCm39) |
W771R |
probably damaging |
Het |
Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
Col4a1 |
C |
T |
8: 11,268,780 (GRCm39) |
|
probably benign |
Het |
D3Ertd751e |
A |
G |
3: 41,708,313 (GRCm39) |
Y150C |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,100,584 (GRCm39) |
S832P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
Elp1 |
C |
A |
4: 56,784,596 (GRCm39) |
V466L |
probably benign |
Het |
Espnl |
T |
C |
1: 91,250,009 (GRCm39) |
V52A |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
Gemin6 |
C |
A |
17: 80,533,139 (GRCm39) |
A24D |
probably damaging |
Het |
Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
Greb1l |
C |
T |
18: 10,458,567 (GRCm39) |
|
probably benign |
Het |
Hal |
T |
C |
10: 93,339,344 (GRCm39) |
S478P |
possibly damaging |
Het |
Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
Hyal5 |
T |
A |
6: 24,876,343 (GRCm39) |
L72Q |
probably damaging |
Het |
Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
Il4ra |
T |
C |
7: 125,174,371 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,332,074 (GRCm39) |
|
probably benign |
Het |
Irag2 |
G |
A |
6: 145,117,704 (GRCm39) |
|
probably benign |
Het |
Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm39) |
V173L |
possibly damaging |
Het |
Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
Klc1 |
A |
G |
12: 111,751,758 (GRCm39) |
|
probably benign |
Het |
Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
Micu2 |
G |
A |
14: 58,154,835 (GRCm39) |
|
probably benign |
Het |
Mrrf |
T |
C |
2: 36,067,293 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
Nacc2 |
T |
G |
2: 25,952,273 (GRCm39) |
N361T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
Nipal4 |
A |
G |
11: 46,041,268 (GRCm39) |
V309A |
possibly damaging |
Het |
Nomo1 |
T |
C |
7: 45,729,018 (GRCm39) |
|
probably null |
Het |
Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,957,467 (GRCm39) |
I266F |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
Pah |
C |
T |
10: 87,403,143 (GRCm39) |
P173S |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,181,782 (GRCm39) |
H62R |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,215,132 (GRCm39) |
|
probably null |
Het |
Raet1c |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
Scai |
T |
A |
2: 38,965,054 (GRCm39) |
I597F |
probably benign |
Het |
Scgb1b2 |
T |
A |
7: 30,991,155 (GRCm39) |
|
probably benign |
Het |
Sec31b |
G |
A |
19: 44,513,908 (GRCm39) |
|
probably benign |
Het |
Sirpd |
A |
G |
3: 15,361,661 (GRCm39) |
L163P |
probably damaging |
Het |
Slc35c2 |
C |
T |
2: 165,122,757 (GRCm39) |
G176S |
probably damaging |
Het |
Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
Slc49a3 |
G |
T |
5: 108,591,882 (GRCm39) |
|
probably benign |
Het |
Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
Tbc1d31 |
C |
A |
15: 57,804,149 (GRCm39) |
T388N |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,867,131 (GRCm39) |
|
probably benign |
Het |
Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
Tmem79 |
A |
G |
3: 88,240,628 (GRCm39) |
S107P |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
Trpm5 |
G |
T |
7: 142,636,695 (GRCm39) |
T414N |
probably damaging |
Het |
Tsnaxip1 |
T |
A |
8: 106,571,120 (GRCm39) |
I660N |
possibly damaging |
Het |
Ube2q2 |
T |
C |
9: 55,070,291 (GRCm39) |
S78P |
probably damaging |
Het |
Vac14 |
A |
T |
8: 111,362,007 (GRCm39) |
|
probably null |
Het |
Vps51 |
G |
T |
19: 6,121,467 (GRCm39) |
S185* |
probably null |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp532 |
A |
T |
18: 65,816,056 (GRCm39) |
I810F |
possibly damaging |
Het |
Zfp599 |
C |
T |
9: 22,161,055 (GRCm39) |
C370Y |
probably damaging |
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 |
|
R0271:Pzp
|
UTSW |
6 |
128,496,477 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAATCTTGGATGCTGTGGACAGGTC -3'
(R):5'- ACCAGTGATACAAAGGCAGAGTCCC -3'
Sequencing Primer
(F):5'- TCTGATGAAGACAGGTCCCG -3'
(R):5'- cccagccttaaaaagcagaaac -3'
|
Posted On |
2013-07-11 |