Incidental Mutation 'R8680:Pzp'
| ID |
661669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
068535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8680 (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 128473009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 787
(T787A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112132
AA Change: T787A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: T787A
| 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: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
99% (78/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,551 (GRCm39) |
Y195C |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,735,371 (GRCm39) |
F159L |
probably damaging |
Het |
| Adam6b |
A |
G |
12: 113,454,371 (GRCm39) |
N396S |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,823,055 (GRCm39) |
M338V |
possibly damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,321 (GRCm39) |
H1329Q |
probably damaging |
Het |
| Aim2 |
C |
T |
1: 173,289,786 (GRCm39) |
P243L |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,412,418 (GRCm39) |
D311G |
probably damaging |
Het |
| Apon |
A |
T |
10: 128,090,428 (GRCm39) |
E35D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,078,566 (GRCm39) |
D224G |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,953,229 (GRCm39) |
*839R |
probably null |
Het |
| Bco2 |
A |
G |
9: 50,461,878 (GRCm39) |
L42P |
probably damaging |
Het |
| Bicral |
T |
A |
17: 47,141,873 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
T |
C |
3: 54,955,878 (GRCm39) |
Q306R |
probably benign |
Het |
| Cep152 |
G |
T |
2: 125,406,131 (GRCm39) |
S1467* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,225,085 (GRCm39) |
V110E |
probably damaging |
Het |
| Clip2 |
G |
A |
5: 134,531,462 (GRCm39) |
A781V |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,243,772 (GRCm39) |
I1083F |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,336,710 (GRCm39) |
V934A |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,101,382 (GRCm39) |
F891L |
possibly damaging |
Het |
| Dnai7 |
T |
A |
6: 145,127,542 (GRCm39) |
I456F |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,057,338 (GRCm39) |
V1554A |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,690,499 (GRCm39) |
M191K |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,664,772 (GRCm39) |
D238V |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,144,692 (GRCm39) |
L4061F |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,703 (GRCm39) |
D2433G |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
| Garin2 |
TGATGTCACAGATGTCAC |
TGATGTCAC |
12: 78,762,057 (GRCm39) |
|
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,174,039 (GRCm39) |
E790G |
probably damaging |
Het |
| Ighv1-67 |
A |
T |
12: 115,567,861 (GRCm39) |
V17E |
probably damaging |
Het |
| Klra9 |
T |
A |
6: 130,165,639 (GRCm39) |
R125S |
probably damaging |
Het |
| Leo1 |
T |
C |
9: 75,353,277 (GRCm39) |
|
probably null |
Het |
| Map2 |
G |
T |
1: 66,460,872 (GRCm39) |
R1556L |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,059,166 (GRCm39) |
|
probably null |
Het |
| Meikin |
T |
C |
11: 54,317,477 (GRCm39) |
I426T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,556,015 (GRCm39) |
V3426E |
unknown |
Het |
| Or4a15 |
T |
A |
2: 89,193,065 (GRCm39) |
Y236F |
probably benign |
Het |
| Or51af1 |
G |
A |
7: 103,142,029 (GRCm39) |
L19F |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,620 (GRCm39) |
L117P |
probably damaging |
Het |
| Or7e168 |
T |
G |
9: 19,720,105 (GRCm39) |
S164A |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,243,935 (GRCm39) |
I154V |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,547,643 (GRCm39) |
V5A |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,747,936 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
C |
8: 84,756,504 (GRCm39) |
L672P |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,091 (GRCm39) |
T212A |
probably benign |
Het |
| Poc1a |
T |
C |
9: 106,226,960 (GRCm39) |
M400T |
probably benign |
Het |
| Pou6f2 |
T |
A |
13: 18,414,196 (GRCm39) |
Q193L |
unknown |
Het |
| Ppl |
C |
T |
16: 4,905,300 (GRCm39) |
R1665H |
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,123,449 (GRCm39) |
|
probably null |
Het |
| Ptger1 |
T |
C |
8: 84,394,654 (GRCm39) |
S44P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,358,642 (GRCm39) |
R277* |
probably null |
Het |
| Rasgef1a |
T |
A |
6: 118,064,088 (GRCm39) |
I334K |
probably damaging |
Het |
| Rfx1 |
T |
C |
8: 84,818,084 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ripk1 |
T |
A |
13: 34,214,032 (GRCm39) |
I518K |
possibly damaging |
Het |
| Rpl22 |
A |
G |
4: 152,416,763 (GRCm39) |
Y90C |
probably damaging |
Het |
| Rps27a |
C |
A |
11: 29,495,998 (GRCm39) |
R118L |
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,319,331 (GRCm39) |
S19T |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,520,509 (GRCm39) |
|
probably null |
Het |
| Sema4c |
A |
T |
1: 36,589,867 (GRCm39) |
S496T |
probably benign |
Het |
| Serpina3i |
T |
C |
12: 104,231,387 (GRCm39) |
V8A |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,867,628 (GRCm39) |
T139M |
probably damaging |
Het |
| Skic3 |
A |
T |
13: 76,303,587 (GRCm39) |
H1227L |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,000,972 (GRCm39) |
S24T |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,866,975 (GRCm39) |
I423M |
probably benign |
Het |
| Slc7a10 |
G |
A |
7: 34,885,997 (GRCm39) |
G31S |
probably benign |
Het |
| Sowahc |
A |
G |
10: 59,059,001 (GRCm39) |
N379S |
probably benign |
Het |
| Stat5a |
T |
C |
11: 100,774,714 (GRCm39) |
M741T |
unknown |
Het |
| Tcf15 |
T |
C |
2: 151,986,020 (GRCm39) |
S159P |
probably benign |
Het |
| Tdrd5 |
C |
A |
1: 156,098,788 (GRCm39) |
R669L |
possibly damaging |
Het |
| Tln1 |
T |
C |
4: 43,553,041 (GRCm39) |
E350G |
possibly damaging |
Het |
| Trim12c |
T |
G |
7: 103,997,271 (GRCm39) |
N95T |
|
Het |
| Urb1 |
T |
C |
16: 90,571,513 (GRCm39) |
T1099A |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,578 (GRCm39) |
V108D |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,388 (GRCm39) |
Y843H |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,871,321 (GRCm39) |
I654T |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,623,270 (GRCm39) |
N2797S |
possibly damaging |
Het |
| Wscd2 |
T |
C |
5: 113,712,235 (GRCm39) |
Y385H |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,229,500 (GRCm39) |
I318V |
probably benign |
Het |
| Xrcc3 |
T |
A |
12: 111,774,313 (GRCm39) |
K172M |
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 |
|
|
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 |
|
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'- GTGTTGCGGCTTCCATTCAC -3'
(R):5'- GCATCAGACCCCTAGATTTAGTTCC -3'
Sequencing Primer
(F):5'- TCCATTCACTTGCAGAGGAG -3'
(R):5'- CTGTGCTTGGTTTCTGAACTATAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation