Incidental Mutation 'R2869:Pzp'
ID |
266438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pzp
|
Ensembl Gene |
ENSMUSG00000030359 |
Gene Name |
PZP, alpha-2-macroglobulin like |
Synonyms |
|
MMRRC Submission |
040457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R2869 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 128462519 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 null
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 null
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: ENSMUST00000204037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204291
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
C030034I22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
Carmil1 |
G |
A |
13: 24,229,051 (GRCm39) |
|
silent |
Het |
Ccl27a |
C |
T |
4: 41,769,640 (GRCm39) |
R73Q |
probably benign |
Het |
Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Homo |
Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
Ggt6 |
A |
T |
11: 72,328,187 (GRCm39) |
N229I |
probably benign |
Het |
Gm26902 |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
Gm37340 |
G |
A |
2: 6,955,739 (GRCm39) |
|
probably benign |
Het |
Gm9874 |
A |
T |
17: 30,704,763 (GRCm39) |
|
probably benign |
Het |
Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,185,157 (GRCm39) |
C432* |
probably null |
Het |
Habp2 |
T |
A |
19: 56,276,423 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
Kcnb1 |
A |
G |
2: 166,947,855 (GRCm39) |
L331P |
probably damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Homo |
Krt13 |
A |
G |
11: 100,008,475 (GRCm39) |
S421P |
unknown |
Het |
Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
Lzts2 |
C |
A |
19: 45,012,534 (GRCm39) |
S321* |
probably null |
Het |
Marchf8 |
C |
T |
6: 116,378,106 (GRCm39) |
|
probably benign |
Het |
Meikin |
T |
C |
11: 54,264,333 (GRCm39) |
V103A |
possibly damaging |
Het |
Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,388,495 (GRCm39) |
|
silent |
Het |
Nbn |
T |
A |
4: 15,963,810 (GRCm39) |
D70E |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,899,405 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,671 (GRCm39) |
I334L |
probably benign |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Or4k2 |
T |
C |
14: 50,423,811 (GRCm39) |
T288A |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Homo |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
Serinc2 |
A |
G |
4: 130,159,005 (GRCm39) |
S29P |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,992 (GRCm39) |
|
probably benign |
Het |
Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
Tprg1 |
T |
C |
16: 25,231,590 (GRCm39) |
W189R |
probably damaging |
Het |
Trim32 |
A |
G |
4: 65,532,694 (GRCm39) |
D417G |
probably damaging |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
|
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 |
|
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'- TCTTCATCAGAATGGCCCTAAGG -3'
(R):5'- CTGCAAAGCTAAATTTCTGGCAC -3'
Sequencing Primer
(F):5'- CTAAGGCTTGTTTAAGGTGCTCCC -3'
(R):5'- GCTAAATTTCTGGCACTAGACC -3'
|
Posted On |
2015-02-18 |