Incidental Mutation 'R9205:Pzp'
| ID |
698440 |
| 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 # |
R9205 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128460530-128503683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128473626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 731
(D731V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112132
AA Change: D731V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: D731V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.3%
|
| Validation Efficiency |
95% (76/80) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
T |
A |
6: 140,587,954 (GRCm39) |
H341Q |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,030,635 (GRCm39) |
A125T |
probably damaging |
Het |
| Bace2 |
G |
T |
16: 97,158,059 (GRCm39) |
A20S |
unknown |
Het |
| Bcar1 |
T |
C |
8: 112,442,341 (GRCm39) |
Y238C |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,777,827 (GRCm39) |
D758V |
possibly damaging |
Het |
| Btnl10 |
T |
C |
11: 58,811,345 (GRCm39) |
S223P |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,864,587 (GRCm39) |
|
probably null |
Het |
| Cdhr2 |
A |
G |
13: 54,861,801 (GRCm39) |
N66S |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,757,270 (GRCm39) |
M1890V |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,755,837 (GRCm39) |
G2196R |
probably damaging |
Het |
| Col9a1 |
T |
G |
1: 24,224,175 (GRCm39) |
M119R |
unknown |
Het |
| Cryaa |
A |
G |
17: 31,898,642 (GRCm39) |
H123R |
probably damaging |
Het |
| Cux1 |
A |
T |
5: 136,398,989 (GRCm39) |
D171E |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,764,144 (GRCm39) |
T1067S |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,448,480 (GRCm39) |
M4181T |
possibly damaging |
Het |
| Dnajb14 |
A |
G |
3: 137,614,145 (GRCm39) |
E352G |
possibly damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,892,586 (GRCm39) |
|
probably null |
Het |
| Dph6 |
T |
C |
2: 114,399,995 (GRCm39) |
I117V |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,228 (GRCm39) |
D767G |
probably damaging |
Het |
| Edn3 |
C |
T |
2: 174,603,482 (GRCm39) |
P77S |
possibly damaging |
Het |
| Fbln7 |
A |
C |
2: 128,737,168 (GRCm39) |
S328R |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,192,428 (GRCm39) |
R1518G |
probably damaging |
Het |
| Foxi2 |
A |
T |
7: 135,013,525 (GRCm39) |
T252S |
probably benign |
Het |
| Foxred2 |
A |
G |
15: 77,836,206 (GRCm39) |
S384P |
probably damaging |
Het |
| Gdpd1 |
G |
A |
11: 86,936,009 (GRCm39) |
H174Y |
probably benign |
Het |
| Gm10542 |
A |
C |
18: 44,337,705 (GRCm39) |
D61A |
possibly damaging |
Het |
| Gm10563 |
TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC |
4: 155,720,307 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,483,981 (GRCm39) |
E114G |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,367 (GRCm39) |
T723M |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,903,695 (GRCm39) |
V348I |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,466,810 (GRCm39) |
L2173Q |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 135,901,521 (GRCm39) |
Y115C |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,430,850 (GRCm39) |
K400* |
probably null |
Het |
| Man2a2 |
C |
T |
7: 80,010,868 (GRCm39) |
V708I |
probably benign |
Het |
| Matr3 |
T |
C |
18: 35,720,774 (GRCm39) |
S746P |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,480,847 (GRCm39) |
V353M |
probably benign |
Het |
| Mideas |
A |
C |
12: 84,199,661 (GRCm39) |
F1020V |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,317,839 (GRCm39) |
D1925E |
probably damaging |
Het |
| Oca2 |
T |
A |
7: 55,966,168 (GRCm39) |
F387I |
probably damaging |
Het |
| Opn3 |
G |
T |
1: 175,490,655 (GRCm39) |
N335K |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,900,778 (GRCm39) |
H316L |
probably benign |
Het |
| Or5k17 |
T |
G |
16: 58,746,485 (GRCm39) |
I150L |
probably benign |
Het |
| Or5k17 |
G |
T |
16: 58,746,486 (GRCm39) |
F149L |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,315 (GRCm39) |
N192K |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,456 (GRCm39) |
I39T |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,493,373 (GRCm39) |
S267T |
probably benign |
Het |
| Osm |
A |
G |
11: 4,188,504 (GRCm39) |
N44D |
possibly damaging |
Het |
| Otop2 |
T |
C |
11: 115,219,912 (GRCm39) |
Y251H |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,612 (GRCm39) |
S389P |
possibly damaging |
Het |
| Polr1d |
C |
T |
5: 147,038,068 (GRCm39) |
A19V |
probably damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,814,276 (GRCm39) |
V726M |
probably benign |
Het |
| Rgl2 |
A |
T |
17: 34,155,002 (GRCm39) |
I669F |
probably damaging |
Het |
| Rpl38 |
T |
C |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Rufy1 |
G |
A |
11: 50,289,301 (GRCm39) |
R514W |
probably damaging |
Het |
| Ruvbl2 |
G |
A |
7: 45,083,741 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,363,657 (GRCm39) |
I874L |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,951 (GRCm39) |
S85P |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,062,794 (GRCm39) |
I287V |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,928 (GRCm39) |
I285N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,805,927 (GRCm39) |
S542P |
possibly damaging |
Het |
| Sox30 |
A |
T |
11: 45,908,180 (GRCm39) |
L782F |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,432,806 (GRCm39) |
N894S |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,152,013 (GRCm39) |
Q5765* |
probably null |
Het |
| Taar7e |
T |
C |
10: 23,913,972 (GRCm39) |
I154T |
probably benign |
Het |
| Tars1 |
A |
G |
15: 11,397,265 (GRCm39) |
|
probably null |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem198b |
A |
T |
10: 128,639,057 (GRCm39) |
C29S |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,722,617 (GRCm39) |
M1021L |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,548,644 (GRCm39) |
P309L |
probably damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,927 (GRCm39) |
S186P |
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,890,319 (GRCm39) |
V974G |
possibly damaging |
Het |
| Tsga10 |
T |
A |
1: 37,880,359 (GRCm39) |
|
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,281 (GRCm39) |
I92F |
probably damaging |
Het |
| Zfp457 |
A |
T |
13: 67,441,965 (GRCm39) |
D203E |
probably benign |
Het |
| Zfp518b |
G |
A |
5: 38,831,501 (GRCm39) |
S168F |
probably damaging |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
| Zfp777 |
G |
A |
6: 48,002,521 (GRCm39) |
T523M |
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 |
|
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 |
|
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'- ACTTCTGTTGCCTGGGAAC -3'
(R):5'- CGGGTAGATAGATAGATGACCCTC -3'
Sequencing Primer
(F):5'- TTGCTCTGAGATTGTAGAAGGGAAAG -3'
(R):5'- AGATAGATGACCCTCTTCTACATCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation