Mutagenetix > Incidental Mutation

Incidental Mutation 'R8471:Pzp'

657026

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

067915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R8471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128460530-128503683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128464411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1372 (D1372G)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112132]

AlphaFold

Q61838

Predicted Effect

probably benign
Transcript: ENSMUST00000112132
AA Change: D1372G

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: D1372G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,223 (GRCm39)	C200S	probably damaging	Het
Abca1	G	A	4: 53,044,187 (GRCm39)	H1812Y	probably damaging	Het
Adgrv1	T	A	13: 81,594,591 (GRCm39)	D4141V	probably benign	Het
Arhgef38	A	T	3: 132,940,472 (GRCm39)	V38E	probably damaging	Het
Arl15	T	A	13: 114,037,632 (GRCm39)		probably benign	Het
Cwh43	T	A	5: 73,591,644 (GRCm39)	L493Q	probably damaging	Het
Dnah7b	C	T	1: 46,138,650 (GRCm39)	H231Y	possibly damaging	Het
Eif2d	C	A	1: 131,092,155 (GRCm39)	Q309K	probably benign	Het
Epop	A	G	11: 97,520,073 (GRCm39)	V12A	possibly damaging	Het
Fkbp5	C	T	17: 28,634,943 (GRCm39)	V189I	probably benign	Het
Ikzf2	T	C	1: 69,578,499 (GRCm39)	M343V	probably benign	Het
Kdm5a	T	A	6: 120,407,192 (GRCm39)	L1469*	probably null	Het
Man2b2	A	T	5: 36,979,183 (GRCm39)	W286R	probably damaging	Het
Naip5	G	T	13: 100,358,153 (GRCm39)	Q1028K	probably damaging	Het
Nlrp1a	T	A	11: 71,013,885 (GRCm39)	D455V	possibly damaging	Het
Or10ag60	A	G	2: 87,437,989 (GRCm39)	R86G	probably damaging	Het
Or10d5b	A	G	9: 39,885,901 (GRCm39)	S73P	unknown	Het
Or1e32	A	T	11: 73,705,309 (GRCm39)	F200I	probably benign	Het
Or5af1	A	G	11: 58,722,597 (GRCm39)	M206V	probably benign	Het
Pcdh12	G	A	18: 38,415,308 (GRCm39)	P606S	probably benign	Het
Plec	A	G	15: 76,070,620 (GRCm39)	V894A	probably damaging	Het
Ppp4r3a	T	C	12: 101,021,901 (GRCm39)	N333S	probably benign	Het
Ptger4	A	T	15: 5,271,800 (GRCm39)	M273K	probably damaging	Het
Rai14	T	C	15: 10,575,245 (GRCm39)	K571R	probably benign	Het
Rarb	T	A	14: 16,548,456 (GRCm38)		probably benign	Het
Ros1	A	G	10: 51,997,078 (GRCm39)	V1198A	probably benign	Het
Ryr3	A	G	2: 112,484,125 (GRCm39)	V3879A	probably damaging	Het
Serpinb6d	A	T	13: 33,848,137 (GRCm39)	I34F	probably damaging	Het
Slc44a2	T	G	9: 21,253,265 (GRCm39)	I62S	probably null	Het
Snx9	T	A	17: 5,940,365 (GRCm39)	W39R	probably damaging	Het
Tbcb	A	T	7: 29,931,100 (GRCm39)	S7T	probably benign	Het
Ttc21a	C	A	9: 119,792,242 (GRCm39)		probably null	Het
Ttc7	G	A	17: 87,601,454 (GRCm39)	G63R	probably benign	Het
Zdhhc3	A	T	9: 122,929,440 (GRCm39)	V65D	probably damaging	Het
Zfp518b	T	C	5: 38,831,426 (GRCm39)	Y193C	probably damaging	Het
Zw10	T	A	9: 48,982,914 (GRCm39)	I515N	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
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'- GTCCTTGTTAACAAATACAAGAGCC -3'
(R):5'- GCACAATCAAAATGGAAATCTGTGC -3'

Sequencing Primer
(F):5'- CTTTGACAGAGGTTAGCG -3'
(R):5'- CTGGTCTACAAAGTAAGCTCCAGG -3'

Posted On

2021-01-18