Incidental Mutation 'R9432:Pzp'
| ID |
713014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R9432 (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 T
at 128499128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 173
(I173N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
[ENSMUST00000143664]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: I173N
| 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 |
probably damaging
Transcript: ENSMUST00000143664
AA Change: I166N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120114
Gene: ENSMUSG00000030359
AA Change: I166N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
126 |
212 |
4.8e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,917 (GRCm39) |
R314G |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,244,559 (GRCm39) |
V2141M |
probably benign |
Het |
| Abcc10 |
G |
A |
17: 46,634,710 (GRCm39) |
A431V |
possibly damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,414 (GRCm39) |
R313G |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,193,928 (GRCm39) |
S361R |
probably damaging |
Het |
| Ahcyl2 |
C |
T |
6: 29,768,874 (GRCm39) |
T113M |
possibly damaging |
Het |
| Ano8 |
C |
A |
8: 71,933,561 (GRCm39) |
R577L |
unknown |
Het |
| Arhgef7 |
T |
A |
8: 11,869,646 (GRCm39) |
S653R |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,469,418 (GRCm39) |
V1090I |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
| C3 |
G |
A |
17: 57,530,950 (GRCm39) |
P384S |
probably damaging |
Het |
| Camkk1 |
A |
T |
11: 72,928,757 (GRCm39) |
E432V |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,726,032 (GRCm39) |
V3087D |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,363,543 (GRCm39) |
S507P |
probably damaging |
Het |
| Coq6 |
G |
A |
12: 84,420,464 (GRCm39) |
M471I |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,171,004 (GRCm39) |
H332Q |
|
Het |
| Cxcr1 |
T |
A |
1: 74,231,231 (GRCm39) |
N264Y |
probably damaging |
Het |
| Dchs2 |
C |
A |
3: 83,036,032 (GRCm39) |
R260S |
possibly damaging |
Het |
| Elmod2 |
C |
A |
8: 84,057,761 (GRCm39) |
A41S |
possibly damaging |
Het |
| Emilin2 |
G |
A |
17: 71,581,781 (GRCm39) |
T315I |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,482,842 (GRCm39) |
N487S |
probably benign |
Het |
| Epn1 |
G |
T |
7: 5,096,369 (GRCm39) |
R221L |
probably benign |
Het |
| Faah |
A |
G |
4: 115,874,772 (GRCm39) |
V28A |
probably benign |
Het |
| Fbl |
G |
A |
7: 27,876,689 (GRCm39) |
R230H |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,805,907 (GRCm39) |
S742F |
probably damaging |
Het |
| Gm5460 |
A |
G |
14: 33,767,769 (GRCm39) |
D184G |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,307,408 (GRCm39) |
V262A |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,142,052 (GRCm39) |
L789* |
probably null |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,460,864 (GRCm39) |
T948A |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,780,932 (GRCm39) |
G1199D |
probably damaging |
Het |
| Hoxb7 |
G |
T |
11: 96,177,617 (GRCm39) |
A22S |
possibly damaging |
Het |
| Ifih1 |
T |
A |
2: 62,439,618 (GRCm39) |
I519F |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,498 (GRCm39) |
I320F |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,774,261 (GRCm39) |
T1320A |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
| Kat6b |
A |
C |
14: 21,672,077 (GRCm39) |
H329P |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,260,056 (GRCm39) |
L54P |
probably benign |
Het |
| Kntc1 |
A |
T |
5: 123,925,112 (GRCm39) |
I1142F |
possibly damaging |
Het |
| Lipo3 |
A |
G |
19: 33,533,864 (GRCm39) |
Y323H |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,441,994 (GRCm39) |
V351I |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,633,888 (GRCm39) |
S787P |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,660,058 (GRCm39) |
I1179T |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,631 (GRCm39) |
D269G |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,354,868 (GRCm39) |
I15R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,499,366 (GRCm39) |
V143I |
possibly damaging |
Het |
| Naaladl1 |
T |
C |
19: 6,156,917 (GRCm39) |
I187T |
possibly damaging |
Het |
| Nos1 |
G |
A |
5: 118,034,871 (GRCm39) |
V416M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,065 (GRCm39) |
R263C |
possibly damaging |
Het |
| Or14j8 |
A |
G |
17: 38,263,559 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8k30 |
T |
G |
2: 86,338,914 (GRCm39) |
I37S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,460,170 (GRCm39) |
T1373A |
probably damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,699,667 (GRCm39) |
M932L |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,683 (GRCm39) |
H638Q |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,628 (GRCm39) |
E141G |
possibly damaging |
Het |
| Pds5b |
T |
G |
5: 150,693,256 (GRCm39) |
L656R |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,587 (GRCm39) |
L14P |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,937,008 (GRCm39) |
R849H |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,188,225 (GRCm39) |
D198G |
probably damaging |
Het |
| Sftpb |
G |
C |
6: 72,283,843 (GRCm39) |
A147P |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc30a6 |
A |
G |
17: 74,719,699 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,615 (GRCm39) |
V224D |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,875,417 (GRCm39) |
Y202N |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,881 (GRCm39) |
I14V |
probably damaging |
Het |
| Tas2r108 |
T |
A |
6: 40,471,121 (GRCm39) |
I199K |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
| Tfg |
G |
A |
16: 56,524,868 (GRCm39) |
R113* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,388,034 (GRCm39) |
L331I |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,046 (GRCm39) |
V195A |
probably damaging |
Het |
| Umad1 |
A |
G |
6: 8,401,096 (GRCm39) |
H55R |
unknown |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,743 (GRCm39) |
Y137N |
probably damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,473 (GRCm39) |
M73K |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,233 (GRCm39) |
T69A |
|
Het |
| Vmn2r59 |
A |
T |
7: 41,696,254 (GRCm39) |
Y163N |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,830,137 (GRCm39) |
D1514E |
probably benign |
Het |
| Vsir |
A |
G |
10: 60,193,732 (GRCm39) |
D65G |
possibly damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,262 (GRCm39) |
M112L |
probably benign |
Het |
| Zfp26 |
T |
A |
9: 20,347,830 (GRCm39) |
K911N |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,670,980 (GRCm39) |
R346Q |
probably damaging |
Het |
| Zfp595 |
A |
T |
13: 67,465,407 (GRCm39) |
Y288* |
probably null |
Het |
| Zfyve28 |
G |
T |
5: 34,400,633 (GRCm39) |
Q22K |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,963,539 (GRCm39) |
D32A |
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 |
|
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 |
|
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'- AGTAACCTTGAGGATTCCACCATC -3'
(R):5'- ACATCACTGTCCCTTACTCAGG -3'
Sequencing Primer
(F):5'- TGAGGATTCCACCATCATATATGCC -3'
(R):5'- CCTTACTCAGGTCTACAGTGTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation