Incidental Mutation 'R7316:Pzp'
ID |
567959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pzp
|
Ensembl Gene |
ENSMUSG00000030359 |
Gene Name |
PZP, alpha-2-macroglobulin like |
Synonyms |
|
MMRRC Submission |
045413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R7316 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128490736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 409
(D409G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
AlphaFold |
Q61838 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112132
AA Change: D409G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107760 Gene: ENSMUSG00000030359 AA Change: D409G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (93/94) |
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
G |
A |
3: 89,969,020 (GRCm39) |
M214I |
probably benign |
Het |
Aadat |
G |
T |
8: 60,979,668 (GRCm39) |
G177C |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,466,498 (GRCm39) |
I708V |
probably benign |
Het |
Aip |
T |
C |
19: 4,164,793 (GRCm39) |
N264S |
probably benign |
Het |
Alox8 |
A |
T |
11: 69,077,064 (GRCm39) |
D505E |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,553,693 (GRCm39) |
I518N |
probably damaging |
Het |
Arf3 |
G |
A |
15: 98,638,874 (GRCm39) |
Q128* |
probably null |
Het |
Asph |
A |
G |
4: 9,537,746 (GRCm39) |
V344A |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,911,489 (GRCm39) |
R1500S |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,963,935 (GRCm39) |
T1753I |
probably damaging |
Het |
Bptf |
A |
T |
11: 107,001,740 (GRCm39) |
C457* |
probably null |
Het |
Brpf3 |
T |
A |
17: 29,033,660 (GRCm39) |
I568N |
probably damaging |
Het |
Btnl4 |
G |
C |
17: 34,688,031 (GRCm39) |
N582K |
probably benign |
Het |
Camsap3 |
C |
A |
8: 3,654,648 (GRCm39) |
P773T |
possibly damaging |
Het |
Capsl |
A |
T |
15: 9,461,888 (GRCm39) |
I95L |
probably benign |
Het |
Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
Cdan1 |
A |
T |
2: 120,558,813 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
T |
11: 69,236,394 (GRCm39) |
L1939Q |
probably damaging |
Het |
Cngb3 |
A |
T |
4: 19,425,599 (GRCm39) |
Y469F |
probably benign |
Het |
Cp |
T |
C |
3: 20,026,916 (GRCm39) |
L448P |
probably damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,475,687 (GRCm39) |
V418A |
possibly damaging |
Het |
Dag1 |
A |
T |
9: 108,086,701 (GRCm39) |
S147T |
probably benign |
Het |
Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
Dpysl2 |
A |
T |
14: 67,100,044 (GRCm39) |
M64K |
possibly damaging |
Het |
Dus3l |
A |
G |
17: 57,072,551 (GRCm39) |
H38R |
possibly damaging |
Het |
Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
Enox1 |
A |
T |
14: 77,958,298 (GRCm39) |
M616L |
probably benign |
Het |
Epb41l4b |
T |
A |
4: 57,019,867 (GRCm39) |
T708S |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,176,893 (GRCm39) |
I1534N |
probably damaging |
Het |
Fer1l5 |
A |
G |
1: 36,457,197 (GRCm39) |
T1649A |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,491,215 (GRCm39) |
V421A |
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,820,035 (GRCm39) |
Y5256S |
possibly damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,681 (GRCm39) |
L804F |
probably damaging |
Het |
Garin1a |
A |
G |
6: 29,286,101 (GRCm39) |
M187V |
probably benign |
Het |
Gen1 |
A |
G |
12: 11,291,470 (GRCm39) |
V838A |
probably benign |
Het |
Gnptab |
A |
T |
10: 88,236,572 (GRCm39) |
N59I |
probably damaging |
Het |
Grm5 |
A |
G |
7: 87,624,473 (GRCm39) |
T347A |
probably benign |
Het |
Gsdmc3 |
T |
C |
15: 63,730,251 (GRCm39) |
N438D |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,608,697 (GRCm39) |
L1495S |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,811,201 (GRCm39) |
L294Q |
probably damaging |
Het |
Islr2 |
T |
C |
9: 58,105,250 (GRCm39) |
E714G |
probably damaging |
Het |
Larp4 |
A |
T |
15: 99,898,898 (GRCm39) |
M430L |
probably benign |
Het |
Lpcat2b |
A |
G |
5: 107,580,979 (GRCm39) |
I103V |
not run |
Het |
Lrguk |
C |
T |
6: 34,080,191 (GRCm39) |
S1142F |
unknown |
Het |
Lrit2 |
G |
T |
14: 36,790,815 (GRCm39) |
V165F |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,232,432 (GRCm39) |
I1182F |
probably damaging |
Het |
Mcm6 |
C |
T |
1: 128,287,245 (GRCm39) |
D20N |
probably damaging |
Het |
Mief1 |
A |
G |
15: 80,133,598 (GRCm39) |
I218M |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,567,038 (GRCm39) |
T453A |
probably benign |
Het |
Ms4a18 |
T |
A |
19: 10,979,360 (GRCm39) |
S219C |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,176,920 (GRCm39) |
T622S |
probably benign |
Het |
Neb |
A |
T |
2: 52,161,450 (GRCm39) |
M2114K |
possibly damaging |
Het |
Nemp1 |
T |
A |
10: 127,525,212 (GRCm39) |
L122* |
probably null |
Het |
Nkx2-1 |
T |
C |
12: 56,581,583 (GRCm39) |
N88S |
probably benign |
Het |
Nr2c2 |
T |
A |
6: 92,131,444 (GRCm39) |
C202S |
probably damaging |
Het |
Ntsr1 |
A |
C |
2: 180,142,545 (GRCm39) |
D112A |
probably damaging |
Het |
Or14j3 |
A |
G |
17: 37,901,026 (GRCm39) |
S73P |
probably damaging |
Het |
Or56a41 |
A |
T |
7: 104,740,107 (GRCm39) |
H246Q |
probably damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,727 (GRCm39) |
I288F |
probably benign |
Het |
Osbp2 |
C |
A |
11: 3,676,431 (GRCm39) |
R73L |
probably damaging |
Het |
Pbp2 |
T |
A |
6: 135,286,830 (GRCm39) |
E172D |
probably damaging |
Het |
Pcdhgc3 |
T |
C |
18: 37,941,501 (GRCm39) |
I634T |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,042,323 (GRCm39) |
S38P |
probably benign |
Het |
Phyh |
A |
T |
2: 4,940,855 (GRCm39) |
K252* |
probably null |
Het |
Plcb3 |
C |
T |
19: 6,943,753 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
C |
18: 61,440,909 (GRCm39) |
S670G |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
Ptprc |
T |
C |
1: 137,992,509 (GRCm39) |
Y1067C |
probably damaging |
Het |
Pwwp2b |
A |
C |
7: 138,836,140 (GRCm39) |
E527A |
probably benign |
Het |
Rbfox2 |
A |
T |
15: 77,016,929 (GRCm39) |
N148K |
possibly damaging |
Het |
Resf1 |
T |
C |
6: 149,228,136 (GRCm39) |
L394P |
probably damaging |
Het |
Rps24 |
T |
C |
14: 24,540,757 (GRCm39) |
|
probably benign |
Het |
Slc35e4 |
T |
C |
11: 3,862,584 (GRCm39) |
K202E |
probably damaging |
Het |
Spata7 |
C |
T |
12: 98,624,871 (GRCm39) |
R258W |
probably damaging |
Het |
Spen |
A |
T |
4: 141,204,365 (GRCm39) |
S1421T |
unknown |
Het |
Svep1 |
T |
A |
4: 58,068,763 (GRCm39) |
I3008F |
possibly damaging |
Het |
Tbc1d1 |
G |
T |
5: 64,492,620 (GRCm39) |
|
probably null |
Het |
Thsd4 |
T |
A |
9: 59,894,642 (GRCm39) |
H772L |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,036,529 (GRCm39) |
I769V |
probably benign |
Het |
Tm4sf19 |
T |
A |
16: 32,226,466 (GRCm39) |
S127T |
possibly damaging |
Het |
Tmprss9 |
C |
A |
10: 80,730,813 (GRCm39) |
R780S |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,009,591 (GRCm39) |
V475A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,692,509 (GRCm39) |
V471A |
|
Het |
Ttn |
A |
T |
2: 76,597,257 (GRCm39) |
N19885K |
probably damaging |
Het |
Tub |
A |
T |
7: 108,629,378 (GRCm39) |
T478S |
possibly damaging |
Het |
Ube2q2l |
T |
C |
6: 136,378,276 (GRCm39) |
K185E |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,712 (GRCm39) |
Y342F |
|
Het |
Wdr18 |
C |
A |
10: 79,801,059 (GRCm39) |
D157E |
probably benign |
Het |
Xrra1 |
A |
T |
7: 99,525,423 (GRCm39) |
|
probably null |
Het |
Zc3h4 |
G |
C |
7: 16,169,260 (GRCm39) |
G1198A |
unknown |
Het |
Zfp568 |
A |
T |
7: 29,721,681 (GRCm39) |
I209F |
possibly damaging |
Het |
Zfp787 |
C |
A |
7: 6,158,523 (GRCm39) |
|
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,609,863 (GRCm39) |
Y621N |
possibly damaging |
Het |
Zyg11b |
A |
G |
4: 108,107,699 (GRCm39) |
I493T |
possibly 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 |
|
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 |
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'- TTCCAGTGTCTCAGAAGGCAG -3'
(R):5'- GCTAGCTGCCATTTGTAACTG -3'
Sequencing Primer
(F):5'- AGAGCCTCCTGCAAGTGTC -3'
(R):5'- GCCATTTGTAACTGGCTGTCAC -3'
|
Posted On |
2019-06-26 |