Mutagenetix > Incidental Mutation

Incidental Mutation 'R5854:Pzp'

454818

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

043228-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R5854 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

128460530-128503683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128483832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 522 (V522D)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably benign
Transcript: ENSMUST00000112132
AA Change: V522D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: V522D

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: ENSMUST00000204081

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atg4c	G	A	4: 99,116,796 (GRCm39)	V313I	probably benign	Het
Ccdc18	A	G	5: 108,354,594 (GRCm39)	E1111G	possibly damaging	Het
Chuk	T	C	19: 44,070,396 (GRCm39)	H573R	probably benign	Het
Cst13	A	G	2: 148,670,094 (GRCm39)	N88S	probably benign	Het
Dalrd3	T	C	9: 108,447,276 (GRCm39)		probably null	Het
Dnah8	T	A	17: 31,013,737 (GRCm39)	M3826K	possibly damaging	Het
Dsp	A	G	13: 38,351,477 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,452,076 (GRCm39)	L810P	probably damaging	Het
Fcrlb	T	C	1: 170,735,530 (GRCm39)	Y248C	probably damaging	Het
Gmcl1	A	G	6: 86,691,241 (GRCm39)		silent	Het
Gtf3c3	C	A	1: 54,458,596 (GRCm39)	A442S	probably benign	Het
Hdac4	T	C	1: 91,887,143 (GRCm39)	S799G	probably damaging	Het
Hnrnpa2b1	C	G	6: 51,443,589 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,495,508 (GRCm39)	E177G	probably damaging	Het
Knl1	A	G	2: 118,900,884 (GRCm39)	I862V	probably benign	Het
Lonp2	T	A	8: 87,399,699 (GRCm39)		probably null	Het
Map3k19	G	T	1: 127,758,092 (GRCm39)	P363T	probably damaging	Het
Morn3	A	G	5: 123,179,178 (GRCm39)	Y91H	probably damaging	Het
Myom2	A	G	8: 15,158,478 (GRCm39)	D810G	probably benign	Het
Nans	A	G	4: 46,500,180 (GRCm39)	Y188C	probably damaging	Het
Ndufs1	A	T	1: 63,186,548 (GRCm39)	D1E	probably benign	Het
Nelfb	T	C	2: 25,100,005 (GRCm39)	N204S	probably damaging	Het
Noxo1	T	C	17: 24,917,516 (GRCm39)	S31P	probably damaging	Het
Or13a20	A	G	7: 140,232,491 (GRCm39)	M200V	probably benign	Het
Or5af1	T	A	11: 58,722,382 (GRCm39)	M134K	probably damaging	Het
Or8b50	T	C	9: 38,517,959 (GRCm39)	L66S	probably damaging	Het
Pkd1l2	T	G	8: 117,792,485 (GRCm39)	T436P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,445,186 (GRCm39)	D3686G	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,974 (GRCm39)	L285S	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rpe65	A	G	3: 159,321,313 (GRCm39)	D375G	probably benign	Het
Sacs	C	T	14: 61,448,996 (GRCm39)	L3681F	probably damaging	Het
Sft2d1	C	T	17: 8,539,485 (GRCm39)	T96I	probably damaging	Het
Slc12a7	A	G	13: 73,942,059 (GRCm39)	N312D	probably benign	Het
Spaca6	A	T	17: 18,051,509 (GRCm39)	K82*	probably null	Het
Stk32c	A	G	7: 138,768,195 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,193,646 (GRCm39)	N263Y	probably damaging	Het
Uxs1	T	C	1: 43,819,233 (GRCm39)	N190S	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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
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'- TGCTCACACATATAAAGGAGAGAAT -3'
(R):5'- GCCTCTGCATTCTCACTAGAGT -3'

Sequencing Primer
(F):5'- TAAAAGGATCAGGCTTAGACACAAAC -3'
(R):5'- TGGTATGCAAGCCTACATGC -3'

Posted On

2017-02-10