Incidental Mutation 'R5656:Pzp'
| ID |
442317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128467035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1113
(T1113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112132
AA Change: T1113A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: T1113A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,717,405 (GRCm39) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,587,587 (GRCm39) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 47,119,295 (GRCm39) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,435,912 (GRCm39) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,445,930 (GRCm39) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,569,198 (GRCm39) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,555,247 (GRCm39) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,503,393 (GRCm39) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,399,739 (GRCm39) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,087 (GRCm39) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,210 (GRCm39) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,154,584 (GRCm39) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 63,023,010 (GRCm39) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,261,826 (GRCm39) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,660,430 (GRCm39) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,143,542 (GRCm39) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,743,191 (GRCm39) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,513,876 (GRCm39) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 98,985,505 (GRCm39) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,238,865 (GRCm39) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,121,155 (GRCm39) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm39) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,086,759 (GRCm39) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,600,494 (GRCm39) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,338,685 (GRCm39) |
R651* |
probably null |
Het |
| Or1e1f |
T |
A |
11: 73,855,536 (GRCm39) |
M34K |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,744 (GRCm39) |
T280A |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,021,825 (GRCm39) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,811,780 (GRCm39) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,264,447 (GRCm39) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 31,020,015 (GRCm39) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,073,711 (GRCm39) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,264,713 (GRCm39) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,887 (GRCm39) |
S443T |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,526,962 (GRCm39) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,378,508 (GRCm39) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,656,567 (GRCm39) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,002,310 (GRCm39) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,961,674 (GRCm39) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,887 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,393,535 (GRCm39) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,811,460 (GRCm39) |
S93P |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,271,680 (GRCm39) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,092,888 (GRCm39) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,813,754 (GRCm39) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,681,797 (GRCm39) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,457,690 (GRCm39) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,098,628 (GRCm39) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,604,998 (GRCm39) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,356,433 (GRCm39) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,900,047 (GRCm39) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,285,152 (GRCm39) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,113,575 (GRCm39) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,065,210 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,785,848 (GRCm39) |
V233A |
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 |
|
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'- GGCAAAATAGAGCATTTCGCAC -3'
(R):5'- GATGCACGCATATACACACG -3'
Sequencing Primer
(F):5'- TAGAGCATTTCGCACAGCACTG -3'
(R):5'- ACGCATATACACACGATTTTAAAATC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation