Mutagenetix > Incidental Mutation

Incidental Mutation 'R7826:Pzp'

602184

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

045880-MU

Accession Numbers

Essential gene?

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

Stock #

R7826 (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 128464496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1344 (T1344A)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably benign
Transcript: ENSMUST00000112132
AA Change: T1344A

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: T1344A

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	C	A	2: 25,468,477 (GRCm39)	R478L	possibly damaging	Het
Arhgap27	T	C	11: 103,229,153 (GRCm39)	T521A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btbd9	A	T	17: 30,553,301 (GRCm39)	I387N	probably benign	Het
Ccdc27	C	T	4: 154,123,958 (GRCm39)		probably null	Het
Ccdc88a	A	T	11: 29,453,563 (GRCm39)	H1642L	probably benign	Het
Cd300c2	C	T	11: 114,891,644 (GRCm39)	V77I	possibly damaging	Het
Chrnb2	A	T	3: 89,670,550 (GRCm39)	S63T	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah5	C	T	15: 28,367,958 (GRCm39)	T2781M	probably damaging	Het
Donson	T	C	16: 91,485,344 (GRCm39)	D86G	possibly damaging	Het
Echs1	T	A	7: 139,696,349 (GRCm39)		probably benign	Het
Epha8	C	T	4: 136,663,498 (GRCm39)	M483I	probably benign	Het
Eprs1	T	G	1: 185,139,165 (GRCm39)	V850G	probably damaging	Het
Fbxw5	C	A	2: 25,392,561 (GRCm39)	C114*	probably null	Het
Gm5160	C	T	18: 14,558,129 (GRCm39)	R69C	probably benign	Het
Gpr75	A	G	11: 30,841,209 (GRCm39)	H38R	probably damaging	Het
Igsf9	T	C	1: 172,319,197 (GRCm39)	V230A	probably benign	Het
Lonp2	C	T	8: 87,435,641 (GRCm39)	P626S	probably damaging	Het
Lrrtm1	G	T	6: 77,221,095 (GRCm39)		probably null	Het
Man1a2	T	C	3: 100,489,455 (GRCm39)	E508G	probably damaging	Het
Mipep	C	A	14: 61,039,580 (GRCm39)	A203E	probably damaging	Het
Mrc1	T	A	2: 14,299,668 (GRCm39)	C753S	probably damaging	Het
Mthfr	A	G	4: 148,139,467 (GRCm39)	E568G	probably benign	Het
Naca	T	A	10: 127,879,479 (GRCm39)		probably benign	Het
Nek10	G	A	14: 14,860,846 (GRCm38)		probably null	Het
Nf2	T	C	11: 4,739,750 (GRCm39)	T419A	probably benign	Het
Npas3	A	G	12: 53,878,539 (GRCm39)	T164A	possibly damaging	Het
Nudcd3	T	A	11: 6,100,581 (GRCm39)	I124F	possibly damaging	Het
Or8g33	A	G	9: 39,337,423 (GRCm39)	*315Q	probably null	Het
Pappa2	A	T	1: 158,764,010 (GRCm39)	C500*	probably null	Het
Pcdhb18	T	A	18: 37,623,995 (GRCm39)	S442T	probably damaging	Het
Phactr4	T	C	4: 132,105,752 (GRCm39)	N105D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ranbp9	T	C	13: 43,573,097 (GRCm39)	I312V	possibly damaging	Het
Rsf1	A	G	7: 97,310,368 (GRCm39)		probably benign	Het
Slc6a4	A	T	11: 76,903,851 (GRCm39)	I150L	probably benign	Het
Smpd5	T	C	15: 76,180,496 (GRCm39)	S433P	probably benign	Het
Spats1	C	T	17: 45,763,644 (GRCm39)	D209N	probably damaging	Het
Spcs2	C	T	7: 99,488,984 (GRCm39)	G235R	probably damaging	Het
Sptlc3	T	C	2: 139,389,115 (GRCm39)	M165T	probably benign	Het
Synm	T	C	7: 67,385,337 (GRCm39)	D775G	probably damaging	Het
Tango6	A	G	8: 107,419,245 (GRCm39)	D264G	probably benign	Het
Tbc1d30	A	T	10: 121,132,710 (GRCm39)	L218H	probably damaging	Het
Tmem132d	A	G	5: 127,866,953 (GRCm39)	I649T	probably damaging	Het
Tmem145	T	C	7: 25,006,939 (GRCm39)	Y114H	probably damaging	Het
Triml1	A	T	8: 43,591,803 (GRCm39)	V185E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,715,220 (GRCm39)		probably benign	Het
Utrn	C	T	10: 12,277,050 (GRCm39)		probably null	Het
Uty	T	C	Y: 1,137,716 (GRCm39)	K887E	possibly damaging	Het
Zfand2b	T	C	1: 75,145,502 (GRCm39)	F3L	possibly damaging	Het
Zfp280d	C	A	9: 72,219,953 (GRCm39)	Q243K	possibly damaging	Het
Zfp418	T	C	7: 7,185,668 (GRCm39)	F544L	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
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'- TGCATTCCTTTGACAGAGGTTAG -3'
(R):5'- GCACAATCAAAATGGAAATCTGTGC -3'

Sequencing Primer
(F):5'- CTTTGACAGAGGTTAGCGTCCC -3'
(R):5'- TTACTTAAAGAGGATTCGAGAGCC -3'

Posted On

2019-12-03