Mutagenetix > Incidental Mutation

Incidental Mutation 'R5425:Pzp'

426812

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

042991-MU

Accession Numbers

Essential gene?

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

Stock #

R5425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128460530-128503683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128466011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1223 (A1223V)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably damaging
Transcript: ENSMUST00000112132
AA Change: A1223V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: A1223V

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,254 (GRCm39)	E465G	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Aida	T	A	1: 183,103,201 (GRCm39)	C174S	possibly damaging	Het
Aldh1a2	G	A	9: 71,160,286 (GRCm39)	R104H	probably benign	Het
Aldh3a1	T	C	11: 61,104,407 (GRCm39)	L98P	probably benign	Het
Ankmy1	G	T	1: 92,798,679 (GRCm39)	Y20*	probably null	Het
Arhgap9	C	A	10: 127,162,287 (GRCm39)	N314K	probably damaging	Het
Atxn7l1	T	C	12: 33,417,119 (GRCm39)	Y427H	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bola3	G	T	6: 83,326,534 (GRCm39)	G18W	probably benign	Het
Carmil3	A	G	14: 55,731,334 (GRCm39)	T138A	probably benign	Het
Castor1	T	A	11: 4,171,689 (GRCm39)	H304Q	probably damaging	Het
Ccnd2	A	G	6: 127,127,580 (GRCm39)	Y53H	probably benign	Het
Cd101	T	A	3: 100,926,002 (GRCm39)	D239V	probably damaging	Het
Ces1g	T	A	8: 94,052,428 (GRCm39)	Q287L	probably benign	Het
Cfap43	C	T	19: 47,885,371 (GRCm39)	A415T	possibly damaging	Het
Cfap74	A	G	4: 155,540,149 (GRCm39)		probably benign	Het
Crnn	A	G	3: 93,056,456 (GRCm39)	K414R	probably benign	Het
Csf1	A	G	3: 107,656,212 (GRCm39)	L273P	possibly damaging	Het
Dab2ip	T	G	2: 35,600,003 (GRCm39)	H206Q	probably benign	Het
Dipk2a	T	C	9: 94,419,745 (GRCm39)	S62G	probably damaging	Het
Diras2	A	G	13: 52,662,083 (GRCm39)	S75P	probably damaging	Het
Dst	T	C	1: 34,218,831 (GRCm39)	V1757A	probably benign	Het
Dus4l	A	T	12: 31,690,807 (GRCm39)	H281Q	probably damaging	Het
Faah	A	T	4: 115,857,993 (GRCm39)	M436K	probably null	Het
Fat1	T	C	8: 45,478,922 (GRCm39)	V2656A	possibly damaging	Het
Ffar1	A	C	7: 30,560,204 (GRCm39)	L231R	probably damaging	Het
Gab1	T	C	8: 81,527,018 (GRCm39)	K27E	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
H2-T5	A	C	17: 36,479,377 (GRCm39)	L8R	probably damaging	Het
Irx6	T	C	8: 93,404,145 (GRCm39)		probably null	Het
Mcrs1	C	A	15: 99,141,569 (GRCm39)	R376L	probably damaging	Het
Mrgprb1	T	A	7: 48,097,719 (GRCm39)	L64F	possibly damaging	Het
Nck2	T	G	1: 43,593,552 (GRCm39)	V253G	probably benign	Het
Paip1	C	T	13: 119,566,702 (GRCm39)	T12M	possibly damaging	Het
Pdpk1	A	T	17: 24,317,095 (GRCm39)	L256Q	probably damaging	Het
Perm1	A	G	4: 156,302,752 (GRCm39)	D432G	probably benign	Het
Psg25	A	T	7: 18,258,709 (GRCm39)	Y322*	probably null	Het
Rassf8	A	T	6: 145,761,268 (GRCm39)	Y198F	probably benign	Het
Repin1	A	G	6: 48,573,365 (GRCm39)	Q42R	probably benign	Het
Sirpb1b	A	C	3: 15,613,729 (GRCm39)	C51G	probably damaging	Het
Snx13	C	T	12: 35,150,643 (GRCm39)	Q316*	probably null	Het
Spesp1	A	G	9: 62,189,331 (GRCm39)	V5A	possibly damaging	Het
Sprr2e	G	A	3: 92,260,370 (GRCm39)	C67Y	unknown	Het
Tcaf3	G	A	6: 42,573,697 (GRCm39)	P172S	probably damaging	Het
Tmem126b	A	G	7: 90,120,155 (GRCm39)	I72T	probably benign	Het
Tmem17	G	T	11: 22,468,624 (GRCm39)	V188L	probably benign	Het
Tnfrsf1b	T	C	4: 144,955,678 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,725,944 (GRCm39)	Q180L	probably damaging	Het
Ttc41	A	T	10: 86,612,494 (GRCm39)	I1256F	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ywhag	G	T	5: 135,940,119 (GRCm39)	H158Q	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
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
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'- GACTCAGCTATCTAACTCCCAG -3'
(R):5'- TGAGCTAACTGTCATTCATAAGGC -3'

Sequencing Primer
(F):5'- TCAGCTATCTAACTCCCAGAATATG -3'
(R):5'- CCTGGGGATGTTCAGAAA -3'

Posted On

2016-09-01