Incidental Mutation 'R9721:Pzp'
| ID |
730787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R9721 (G1)
|
| Quality Score |
225.009 |
|
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 G
at 128472154 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,212,932 (GRCm39) |
Y120N |
probably benign |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,429,942 (GRCm39) |
V349D |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,087,911 (GRCm39) |
H131L |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,252,087 (GRCm39) |
E588G |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,733,441 (GRCm39) |
V654M |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,713,101 (GRCm39) |
L982P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,257 (GRCm39) |
V72E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,958,501 (GRCm39) |
T869A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,254,893 (GRCm39) |
T27A |
unknown |
Het |
| Ddx19a |
A |
G |
8: 111,705,107 (GRCm39) |
F338S |
probably damaging |
Het |
| Dhrs7c |
T |
A |
11: 67,705,904 (GRCm39) |
V219E |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,892,424 (GRCm39) |
V115A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,866 (GRCm39) |
D3153G |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,938 (GRCm39) |
S412T |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,076,740 (GRCm39) |
|
probably null |
Het |
| Ep300 |
A |
G |
15: 81,492,516 (GRCm39) |
N284S |
unknown |
Het |
| Fam83a |
A |
G |
15: 57,849,513 (GRCm39) |
N19S |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,278 (GRCm39) |
T504S |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,260 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gls |
A |
G |
1: 52,251,427 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,582 (GRCm39) |
C14* |
probably null |
Het |
| Gm9887 |
C |
G |
12: 69,418,629 (GRCm39) |
A202P |
unknown |
Het |
| Ifi214 |
T |
C |
1: 173,355,479 (GRCm39) |
T110A |
possibly damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,113 (GRCm39) |
R293G |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,383,063 (GRCm39) |
T1464S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,400 (GRCm39) |
S225P |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,330 (GRCm39) |
I678N |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,710,240 (GRCm39) |
D429E |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,939,948 (GRCm39) |
T1581A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,343,338 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,924,623 (GRCm39) |
I1319V |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 15,701,638 (GRCm39) |
T751I |
unknown |
Het |
| Matcap1 |
A |
T |
8: 106,009,820 (GRCm39) |
D376E |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,857,595 (GRCm39) |
L363P |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,436,738 (GRCm39) |
S535R |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 125,955,017 (GRCm39) |
D512N |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,406,857 (GRCm39) |
D637V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,030,313 (GRCm39) |
Y391H |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,915 (GRCm39) |
V29F |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
| Or5b3 |
A |
T |
19: 13,388,334 (GRCm39) |
T134S |
probably benign |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,905 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,311,628 (GRCm39) |
D351N |
probably benign |
Het |
| Rerg |
T |
A |
6: 137,033,415 (GRCm39) |
K106* |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,854 (GRCm39) |
E469G |
possibly damaging |
Het |
| Smok2b |
C |
A |
17: 13,453,865 (GRCm39) |
Y8* |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,688 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Spn |
A |
G |
7: 126,735,437 (GRCm39) |
S357P |
probably benign |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,866,762 (GRCm39) |
H531L |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,807,336 (GRCm39) |
M1027V |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,616 (GRCm39) |
R1408* |
probably null |
Het |
| Tut4 |
T |
A |
4: 108,412,778 (GRCm39) |
M1493K |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,101,869 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn1r52 |
G |
A |
6: 90,156,008 (GRCm39) |
C104Y |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,148,255 (GRCm39) |
E273V |
probably damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,168,770 (GRCm39) |
Q1035K |
unknown |
Het |
| Zfp14 |
A |
T |
7: 29,738,609 (GRCm39) |
S125R |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATTTGAAAATCCCGAGAACCACAG -3'
(R):5'- CTCAAGTCCCATGTTGCAAAC -3'
Sequencing Primer
(F):5'- TCCCGAGAACCACAGTTATTC -3'
(R):5'- AAAGTATGTGCTGTCGTTTACCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation