Incidental Mutation 'R6054:Pzp'
| ID |
484298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
044222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128490727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 412
(N412S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112132
AA Change: N412S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: N412S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
| 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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,653,729 (GRCm39) |
S93P |
unknown |
Het |
| Adam28 |
T |
A |
14: 68,879,601 (GRCm39) |
N149I |
probably benign |
Het |
| Adam4 |
A |
C |
12: 81,466,828 (GRCm39) |
F598V |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,151,136 (GRCm39) |
H33R |
possibly damaging |
Het |
| Apoh |
A |
G |
11: 108,286,801 (GRCm39) |
N75S |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,371,173 (GRCm39) |
D2225G |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,930,715 (GRCm39) |
P514L |
possibly damaging |
Het |
| Brd9 |
T |
A |
13: 74,088,860 (GRCm39) |
M195K |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,283,414 (GRCm39) |
S755A |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,241,028 (GRCm39) |
H122L |
unknown |
Het |
| Ccs |
A |
T |
19: 4,875,893 (GRCm39) |
D192E |
probably benign |
Het |
| Cd3e |
G |
A |
9: 44,913,459 (GRCm39) |
T92M |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,314,279 (GRCm39) |
F1249L |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,515 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,668,859 (GRCm39) |
Y122H |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,083,748 (GRCm39) |
P570S |
possibly damaging |
Het |
| Dchs2 |
A |
T |
3: 83,253,543 (GRCm39) |
I2318L |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,660,219 (GRCm39) |
Y184N |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,990,453 (GRCm39) |
N297K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,351,585 (GRCm39) |
G135S |
probably benign |
Het |
| Efhb |
C |
T |
17: 53,706,027 (GRCm39) |
V837I |
possibly damaging |
Het |
| Efs |
C |
T |
14: 55,158,614 (GRCm39) |
D15N |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,351,681 (GRCm39) |
T314I |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,474 (GRCm39) |
C69S |
unknown |
Het |
| Grxcr2 |
A |
G |
18: 42,119,743 (GRCm39) |
V199A |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,328,682 (GRCm39) |
E468G |
probably benign |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,217 (GRCm39) |
V125E |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,772,412 (GRCm39) |
T74S |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Leng8 |
C |
A |
7: 4,148,522 (GRCm39) |
|
probably null |
Het |
| Maml2 |
TCAGCAGCAGCAGCAGCAGC |
TCAGCAGCAGCAGCAGC |
9: 13,532,695 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,908,851 (GRCm39) |
H154R |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,347,636 (GRCm39) |
E777G |
probably benign |
Het |
| Miip |
A |
G |
4: 147,950,135 (GRCm39) |
S154P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,649,251 (GRCm39) |
V985A |
probably benign |
Het |
| Nmrk2 |
G |
A |
10: 81,035,468 (GRCm39) |
R158W |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,039,505 (GRCm39) |
S180P |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,764,571 (GRCm39) |
S190P |
probably damaging |
Het |
| Opa1 |
T |
G |
16: 29,433,952 (GRCm39) |
S596A |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,631 (GRCm39) |
M34I |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,531,033 (GRCm39) |
V139A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,073,857 (GRCm39) |
E496G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,133 (GRCm39) |
V171G |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,003 (GRCm39) |
T68A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,418,219 (GRCm39) |
Y1719C |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,320,058 (GRCm39) |
R1159L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,700,146 (GRCm39) |
S1548T |
probably benign |
Het |
| Rora |
A |
G |
9: 69,286,084 (GRCm39) |
I471M |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,535,877 (GRCm39) |
V266L |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,416,470 (GRCm39) |
D386N |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,430 (GRCm39) |
L253Q |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,464 (GRCm39) |
H204R |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,007,356 (GRCm39) |
T313A |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,038,304 (GRCm39) |
T578A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,450 (GRCm39) |
S597G |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,126 (GRCm39) |
H174L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,436,975 (GRCm39) |
S281T |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,736,843 (GRCm39) |
D22G |
probably damaging |
Het |
| Zfp408 |
C |
A |
2: 91,479,636 (GRCm39) |
V61L |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,640,689 (GRCm39) |
A205T |
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 |
|
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'- CTTTCCAGTGTCTCAGAAGGC -3'
(R):5'- GCTGCCATTTGTAACTGGCTG -3'
Sequencing Primer
(F):5'- AGAGCCTCCTGCAAGTGTC -3'
(R):5'- GTAACTGGCTGTCACTTTCCTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation