Incidental Mutation 'R7879:Pzp'
| ID |
608636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
045931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R7879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128465979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1234
(S1234P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112132
AA Change: S1234P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: S1234P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,439,662 (GRCm39) |
I81T |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,383,299 (GRCm39) |
P85S |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,223 (GRCm39) |
V74M |
probably damaging |
Het |
| Alb |
C |
A |
5: 90,620,507 (GRCm39) |
T539K |
probably benign |
Het |
| B4galnt2 |
G |
A |
11: 95,760,223 (GRCm39) |
T268I |
possibly damaging |
Het |
| Bcl7b |
G |
A |
5: 135,205,986 (GRCm39) |
E58K |
possibly damaging |
Het |
| Calr3 |
C |
T |
8: 73,178,487 (GRCm39) |
S372N |
unknown |
Het |
| Cdcp3 |
T |
A |
7: 130,844,871 (GRCm39) |
V588E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
A |
C |
1: 109,976,677 (GRCm39) |
E114A |
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,144,686 (GRCm39) |
R74G |
possibly damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,109 (GRCm39) |
F256S |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,551 (GRCm39) |
T996A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,351,817 (GRCm39) |
V536A |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,441,820 (GRCm39) |
M348K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,004,744 (GRCm39) |
D2192E |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,646 (GRCm39) |
I2600V |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,785,700 (GRCm39) |
S185A |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,780,083 (GRCm39) |
D628V |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,333,718 (GRCm39) |
S371T |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,399,737 (GRCm39) |
N455K |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,736,365 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,295,471 (GRCm39) |
T327M |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,665,941 (GRCm39) |
M595K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,981,252 (GRCm39) |
A875V |
probably benign |
Het |
| Hvcn1 |
G |
A |
5: 122,376,701 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,238,145 (GRCm39) |
S679P |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,751,265 (GRCm39) |
H1285R |
probably benign |
Het |
| Kcnq4 |
T |
C |
4: 120,559,632 (GRCm39) |
T523A |
probably benign |
Het |
| Kif6 |
T |
A |
17: 50,139,214 (GRCm39) |
I562N |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,638,575 (GRCm39) |
W555C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,624 (GRCm39) |
T423A |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,111,362 (GRCm39) |
V391I |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,445,044 (GRCm39) |
M592V |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,968 (GRCm39) |
M275T |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,259,695 (GRCm39) |
V499E |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,185 (GRCm39) |
C252* |
probably null |
Het |
| Or6c213 |
T |
C |
10: 129,574,559 (GRCm39) |
I76V |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,612,970 (GRCm39) |
E2052G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,198,670 (GRCm39) |
C253S |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,727,228 (GRCm39) |
S2029P |
unknown |
Het |
| Plekhg3 |
A |
G |
12: 76,612,343 (GRCm39) |
I401M |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,100,392 (GRCm39) |
C1140S |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,817 (GRCm39) |
L62H |
probably damaging |
Het |
| Psmf1 |
T |
A |
2: 151,576,163 (GRCm39) |
E115V |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Qrich1 |
A |
G |
9: 108,436,485 (GRCm39) |
T728A |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,656,636 (GRCm39) |
A323S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,028,910 (GRCm39) |
V778A |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,116,349 (GRCm39) |
L430* |
probably null |
Het |
| Sema7a |
A |
T |
9: 57,862,363 (GRCm39) |
I189F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,571,386 (GRCm39) |
I39T |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,309,023 (GRCm39) |
T115A |
probably benign |
Het |
| Stmn4 |
A |
G |
14: 66,595,388 (GRCm39) |
I138V |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,236,335 (GRCm39) |
|
probably null |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,714,825 (GRCm39) |
D323E |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,401,347 (GRCm39) |
D140G |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,852,010 (GRCm39) |
R827H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,625,397 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
C |
1: 66,549,866 (GRCm39) |
V708A |
probably benign |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,772 (GRCm39) |
T130S |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,755 (GRCm39) |
C129R |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- GAAGCATCCATGACTCAGCTATC -3'
(R):5'- GAGCTAACTGTCATTCATAAGGC -3'
Sequencing Primer
(F):5'- TCAGCTATCTAACTCCCAGAATATG -3'
(R):5'- GTTCAGAAAGTGAAGGCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation