Mutagenetix > Incidental Mutation

Incidental Mutation 'R3404:Pzp'

259278

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

040622-MU

Accession Numbers

Essential gene?

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

Stock #

R3404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128460530-128503683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128490769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 398 (T398M)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably damaging
Transcript: ENSMUST00000032510
AA Change: T398M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: T398M

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
Pfam:A2M_N	126	219	8.8e-22	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	1002	5.7e-19	PFAM
Pfam:A2M_comp	1022	1284	1.6e-93	PFAM
A2M_recep	1395	1482	6.47e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112132
AA Change: T398M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: T398M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 93.8%

Validation Efficiency

98% (41/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,571,449 (GRCm39)	V1065M	probably damaging	Het
Alg12	A	T	15: 88,698,782 (GRCm39)	I181N	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,682,252 (GRCm39)	K1220*	probably null	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Baz1a	C	T	12: 54,963,774 (GRCm39)	S770N	probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Bnc2	G	T	4: 84,464,478 (GRCm39)	N20K	probably damaging	Het
Brip1	T	A	11: 86,034,089 (GRCm39)	N544I	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cyp2c66	T	C	19: 39,151,771 (GRCm39)	V162A	probably benign	Het
Dnai1	A	T	4: 41,603,246 (GRCm39)	E176D	probably benign	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Fezf1	A	T	6: 23,247,283 (GRCm39)	V264D	probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hspa13	C	A	16: 75,554,914 (GRCm39)	E391*	probably null	Het
Ighv1-53	T	A	12: 115,122,058 (GRCm39)	T106S	possibly damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Itgam	A	G	7: 127,669,875 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mycbp2	C	A	14: 103,437,550 (GRCm39)	C2104F	probably damaging	Het
Nlrp2	T	C	7: 5,322,286 (GRCm39)	D49G	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Prkd1	C	T	12: 50,695,687 (GRCm39)	A24T	unknown	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rnf146	A	G	10: 29,223,424 (GRCm39)	V154A	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Snx31	C	T	15: 36,525,799 (GRCm39)	C300Y	probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Trim33	A	G	3: 103,228,875 (GRCm39)	E327G	probably damaging	Het
Ubap2l	T	C	3: 89,946,157 (GRCm39)	E149G	probably damaging	Het
Ube4a	A	G	9: 44,840,985 (GRCm39)	S979P	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vps13b	T	C	15: 35,926,200 (GRCm39)	S3834P	probably damaging	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	Het
Zfp729b	T	G	13: 67,739,283 (GRCm39)	H994P	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
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
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'- TGTCCCTGACACAGAACTTTC -3'
(R):5'- TCAGGAAAGGACAGGGTCTTTC -3'

Sequencing Primer
(F):5'- GTTCCCACATTGCTCAGTTTG -3'
(R):5'- GTCTTTCCTGAAGAGACAAAGATG -3'

Posted On

2015-01-23