Incidental Mutation 'R5994:Pzp'
| ID |
481001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pzp
|
| Ensembl Gene |
ENSMUSG00000030359 |
| Gene Name |
PZP, alpha-2-macroglobulin like |
| Synonyms |
|
| MMRRC Submission |
044173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5994 (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 128468560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 989
(M989K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112132]
|
| AlphaFold |
Q61838 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112132
AA Change: M989K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: M989K
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,647,862 (GRCm39) |
H1118L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,840,592 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,928,995 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,491,545 (GRCm39) |
I1016N |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,562,140 (GRCm39) |
C312S |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,478 (GRCm39) |
V89M |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,886,187 (GRCm39) |
G330D |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,715,935 (GRCm39) |
L195P |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,874,943 (GRCm39) |
I514T |
probably damaging |
Het |
| Ctdsp2 |
G |
A |
10: 126,831,689 (GRCm39) |
|
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,142 (GRCm39) |
I152V |
probably benign |
Het |
| Dglucy |
G |
A |
12: 100,808,959 (GRCm39) |
R219Q |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,338,741 (GRCm39) |
A810E |
possibly damaging |
Het |
| Dtx4 |
T |
C |
19: 12,478,517 (GRCm39) |
Y22C |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,493,377 (GRCm39) |
I105N |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,514,749 (GRCm39) |
P519S |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,430,294 (GRCm39) |
S155C |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,258 (GRCm39) |
E51V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga7 |
T |
C |
8: 23,740,281 (GRCm39) |
E83G |
probably benign |
Het |
| Gpr12 |
T |
C |
5: 146,520,241 (GRCm39) |
H227R |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,141,372 (GRCm39) |
S85R |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,607 (GRCm39) |
S3282P |
unknown |
Het |
| Ift74 |
C |
A |
4: 94,579,961 (GRCm39) |
T543K |
possibly damaging |
Het |
| Klf10 |
C |
A |
15: 38,296,285 (GRCm39) |
R420L |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,771,290 (GRCm39) |
I338F |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,131,965 (GRCm39) |
S152C |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,234 (GRCm39) |
H270L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,196,481 (GRCm39) |
L504Q |
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,691,176 (GRCm39) |
Q366R |
probably benign |
Het |
| Npy5r |
A |
T |
8: 67,134,751 (GRCm39) |
V14D |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,031 (GRCm39) |
R830* |
probably null |
Het |
| Ogfrl1 |
A |
T |
1: 23,418,070 (GRCm39) |
Y103N |
probably damaging |
Het |
| Or10g7 |
A |
T |
9: 39,905,519 (GRCm39) |
R138* |
probably null |
Het |
| P2rx4 |
T |
A |
5: 122,863,142 (GRCm39) |
L232H |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,906,947 (GRCm39) |
T71S |
probably benign |
Het |
| Paip2b |
C |
A |
6: 83,785,867 (GRCm39) |
S121I |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,149 (GRCm39) |
T261I |
possibly damaging |
Het |
| Ppp6c |
G |
T |
2: 39,101,004 (GRCm39) |
T46K |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,584,261 (GRCm39) |
H371Q |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,501,725 (GRCm39) |
|
probably null |
Het |
| Psd3 |
C |
T |
8: 68,172,620 (GRCm39) |
A894T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,448,073 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,203,373 (GRCm39) |
S1159T |
probably benign |
Het |
| Rapgefl1 |
T |
C |
11: 98,740,986 (GRCm39) |
F575L |
probably benign |
Het |
| Rassf6 |
A |
G |
5: 90,765,627 (GRCm39) |
L28S |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,857 (GRCm39) |
K268N |
probably damaging |
Het |
| Rela |
C |
T |
19: 5,697,092 (GRCm39) |
T433M |
possibly damaging |
Het |
| Rnf103 |
T |
A |
6: 71,473,894 (GRCm39) |
S102R |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,243 (GRCm39) |
N516S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,403 (GRCm39) |
I241T |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,199,494 (GRCm39) |
I131T |
possibly damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,357,570 (GRCm39) |
F191L |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,090,590 (GRCm39) |
C236F |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,295,562 (GRCm39) |
T520A |
probably benign |
Het |
| Slc26a11 |
C |
A |
11: 119,270,738 (GRCm39) |
F553L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,672,404 (GRCm39) |
P1596S |
possibly damaging |
Het |
| Taar7b |
A |
G |
10: 23,876,246 (GRCm39) |
H137R |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,237 (GRCm39) |
C468* |
probably null |
Het |
| Timp4 |
C |
T |
6: 115,224,315 (GRCm39) |
G118D |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,003 (GRCm39) |
K48E |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,862,475 (GRCm39) |
I255N |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,133,189 (GRCm39) |
|
probably null |
Het |
| Tut7 |
T |
G |
13: 59,937,023 (GRCm39) |
Y806S |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,457,389 (GRCm39) |
Y283H |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,020,567 (GRCm39) |
V126L |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,596 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,875,918 (GRCm39) |
S2768P |
probably damaging |
Het |
| Zfp101 |
T |
A |
17: 33,599,936 (GRCm39) |
M607L |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,805,464 (GRCm39) |
V2527M |
possibly damaging |
Het |
| Zfp503 |
T |
A |
14: 22,035,630 (GRCm39) |
T429S |
possibly 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 |
|
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'- GGAGGGTCATTTGATTGGAAATAC -3'
(R):5'- GTCCTGGAGCCATCTGTTTTAC -3'
Sequencing Primer
(F):5'- GGTCATTTGATTGGAAATACAGCAAC -3'
(R):5'- GGAGCCATCTGTTTTACTCATTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation