Incidental Mutation 'R5103:Pzp'
| ID |
392480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
042691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5103 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128479192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 654
(V654M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112132
AA Change: V654M
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: V654M
| 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: ENSMUST00000204081
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
99% (82/83) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
G |
A |
5: 31,051,345 (GRCm39) |
R518H |
probably damaging |
Het |
| Agfg1 |
T |
C |
1: 82,871,288 (GRCm39) |
S486P |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,745,978 (GRCm39) |
D283G |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,480,066 (GRCm39) |
N162S |
possibly damaging |
Het |
| Capn1 |
A |
G |
19: 6,059,140 (GRCm39) |
Y274H |
probably damaging |
Het |
| Cdk5 |
A |
T |
5: 24,627,833 (GRCm39) |
V30E |
probably damaging |
Het |
| Cep290 |
T |
G |
10: 100,374,882 (GRCm39) |
L1376W |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,873,944 (GRCm39) |
T1055S |
probably damaging |
Het |
| Cyp2c70 |
A |
G |
19: 40,149,076 (GRCm39) |
Y357H |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
A |
11: 29,800,905 (GRCm39) |
E367V |
possibly damaging |
Het |
| Emp1 |
A |
G |
6: 135,358,073 (GRCm39) |
T140A |
probably benign |
Het |
| Ergic3 |
T |
C |
2: 155,850,545 (GRCm39) |
V74A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,152,632 (GRCm39) |
L1029F |
probably damaging |
Het |
| Fank1 |
C |
A |
7: 133,478,570 (GRCm39) |
C210* |
probably null |
Het |
| Fbxo31 |
T |
C |
8: 122,279,101 (GRCm39) |
D462G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,909,849 (GRCm39) |
A736V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,404,796 (GRCm39) |
T56A |
possibly damaging |
Het |
| Gm5901 |
A |
T |
7: 105,026,589 (GRCm39) |
|
probably null |
Het |
| Golga2 |
A |
G |
2: 32,193,758 (GRCm39) |
E458G |
probably benign |
Het |
| Grik2 |
T |
A |
10: 49,372,205 (GRCm39) |
I335F |
probably benign |
Het |
| Grin1 |
T |
A |
2: 25,200,433 (GRCm39) |
M230L |
probably benign |
Het |
| Gtf2f1 |
C |
T |
17: 57,311,519 (GRCm39) |
G297D |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,472,577 (GRCm39) |
|
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,045,724 (GRCm39) |
T136A |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,087,109 (GRCm39) |
S24C |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,139,394 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,974,418 (GRCm39) |
G979E |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,261,868 (GRCm39) |
M345V |
probably damaging |
Het |
| Mfsd14b |
A |
G |
13: 65,234,907 (GRCm39) |
V90A |
possibly damaging |
Het |
| Micu1 |
T |
C |
10: 59,624,806 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Mmp2 |
C |
T |
8: 93,558,413 (GRCm39) |
R161* |
probably null |
Het |
| Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
| Msh5 |
T |
C |
17: 35,248,215 (GRCm39) |
I783V |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 69,926,747 (GRCm39) |
F65I |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,587,605 (GRCm39) |
V37L |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 70,990,352 (GRCm39) |
T967S |
probably damaging |
Het |
| Nolc1 |
A |
T |
19: 46,070,103 (GRCm39) |
K291* |
probably null |
Het |
| Or1j18 |
A |
T |
2: 36,624,680 (GRCm39) |
T116S |
probably benign |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or8d2b |
G |
T |
9: 38,788,872 (GRCm39) |
M133I |
probably damaging |
Het |
| Or8u8 |
C |
A |
2: 86,011,960 (GRCm39) |
R165L |
probably benign |
Het |
| Paip1 |
A |
G |
13: 119,574,515 (GRCm39) |
E70G |
possibly damaging |
Het |
| Palmd |
T |
A |
3: 116,721,070 (GRCm39) |
E127V |
probably damaging |
Het |
| Paqr6 |
T |
A |
3: 88,275,024 (GRCm39) |
C262* |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,112,893 (GRCm39) |
H1301R |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,755,659 (GRCm39) |
D1896E |
probably damaging |
Het |
| Ppib |
A |
G |
9: 65,968,747 (GRCm39) |
|
probably null |
Het |
| Rab26 |
T |
C |
17: 24,753,071 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,956 (GRCm39) |
L468P |
probably damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,540 (GRCm39) |
Q65* |
probably null |
Het |
| Rhpn1 |
C |
T |
15: 75,586,064 (GRCm39) |
T659I |
possibly damaging |
Het |
| Rmc1 |
A |
G |
18: 12,322,319 (GRCm39) |
I591V |
probably benign |
Het |
| Slc12a5 |
C |
A |
2: 164,834,353 (GRCm39) |
H791Q |
probably damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,958,155 (GRCm39) |
Q93* |
probably null |
Het |
| Slc4a1 |
T |
C |
11: 102,244,087 (GRCm39) |
M681V |
possibly damaging |
Het |
| Slc6a9 |
T |
A |
4: 117,725,352 (GRCm39) |
F493L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,033 (GRCm39) |
E476G |
probably damaging |
Het |
| Smco4 |
G |
T |
9: 15,456,090 (GRCm39) |
E59* |
probably null |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,111,054 (GRCm39) |
L167Q |
probably damaging |
Het |
| Sult1e1 |
C |
A |
5: 87,724,091 (GRCm39) |
V289L |
probably benign |
Het |
| Tbc1d4 |
C |
A |
14: 101,696,318 (GRCm39) |
E877* |
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,492,164 (GRCm39) |
I1033F |
probably damaging |
Het |
| Tppp2 |
T |
A |
14: 52,156,909 (GRCm39) |
F95L |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,260,562 (GRCm39) |
V288A |
probably benign |
Het |
| Vmn2r41 |
G |
A |
7: 8,141,341 (GRCm39) |
L708F |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,222,018 (GRCm39) |
P126L |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,740,911 (GRCm39) |
I221V |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,659 (GRCm39) |
R628G |
probably benign |
Het |
| Zfp207 |
T |
C |
11: 80,282,736 (GRCm39) |
L233P |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,797,032 (GRCm39) |
C373S |
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 |
|
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 |
|
|
R9721:Pzp
|
UTSW |
6 |
128,472,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATTAACCCCTGCCTCTGAG -3'
(R):5'- ATTCCATATCGAACATTGCCAC -3'
Sequencing Primer
(F):5'- GCCTCTGAGACTCTTTTCTCTTAC -3'
(R):5'- TCGAACATTGCCACATTAAAATTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation