Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Pzp'

205918

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

039878-MU

Accession Numbers

Essential gene?

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

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128460530-128503683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128479188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 655 (Y655C)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably damaging
Transcript: ENSMUST00000032510
AA Change: Y655C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: Y655C

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: Y655C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: Y655C

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,504,668 (GRCm39)	R43K	possibly damaging	Het
Acp1	A	G	12: 30,947,804 (GRCm39)	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,876,365 (GRCm39)	D417E	probably benign	Het
Agap2	G	A	10: 126,916,385 (GRCm39)	V299I	unknown	Het
Ahnak	C	T	19: 8,991,196 (GRCm39)	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,517,810 (GRCm39)	E278G	probably damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,302,461 (GRCm39)	E928G	probably benign	Het
Atp2b2	A	C	6: 113,819,244 (GRCm39)	N16K	probably damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,327,030 (GRCm39)	G236S	probably benign	Het
Ccar1	A	T	10: 62,600,296 (GRCm39)	I545N	probably damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,370,837 (GRCm39)	H1310L	possibly damaging	Het
Ces1h	T	C	8: 94,085,450 (GRCm39)	K339E	probably benign	Het
Cfap91	T	C	16: 38,144,659 (GRCm39)		probably null	Het
Cit	A	G	5: 116,011,960 (GRCm39)	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Cntrl	A	G	2: 35,012,696 (GRCm39)	D278G	probably damaging	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,557,783 (GRCm39)	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,450,646 (GRCm39)	Q95L	probably damaging	Het
Cpd	G	T	11: 76,677,164 (GRCm39)	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,542,309 (GRCm39)	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,073 (GRCm39)	I34N	probably damaging	Het
Ddx1	A	C	12: 13,279,332 (GRCm39)	S436A	probably benign	Het
Defa30	A	G	8: 21,625,500 (GRCm39)	Y88C	probably damaging	Het
Dhx30	G	A	9: 109,917,740 (GRCm39)	L317F	probably damaging	Het
Dll3	C	A	7: 27,995,835 (GRCm39)	G322V	probably damaging	Het
Dnah10	G	A	5: 124,881,753 (GRCm39)	D2843N	probably damaging	Het
Dnaja3	C	T	16: 4,515,133 (GRCm39)	T266I	probably damaging	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,034,744 (GRCm39)	V48A	unknown	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Eri3	G	A	4: 117,506,562 (GRCm39)	G297D	probably benign	Het
Esp34	A	G	17: 38,870,424 (GRCm39)	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frzb	A	G	2: 80,276,724 (GRCm39)	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,823,601 (GRCm39)	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,493,843 (GRCm39)	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Gpa33	A	G	1: 165,992,759 (GRCm39)	I291V	probably benign	Het
Gpr158	A	G	2: 21,373,935 (GRCm39)	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,234,725 (GRCm39)	G84W	probably damaging	Het
Hormad1	A	G	3: 95,487,317 (GRCm39)	N267S	probably benign	Het
Htr2a	A	T	14: 74,943,193 (GRCm39)	I258F	probably damaging	Het
Htra4	T	C	8: 25,523,597 (GRCm39)	T323A	probably damaging	Het
Ift140	T	A	17: 25,254,813 (GRCm39)	F162Y	probably benign	Het
Islr2	T	C	9: 58,107,099 (GRCm39)	T54A	probably damaging	Het
Kcna4	T	G	2: 107,126,829 (GRCm39)	V521G	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Kif6	G	T	17: 50,208,799 (GRCm39)	A740S	probably benign	Het
Lad1	T	A	1: 135,755,468 (GRCm39)	V248E	probably damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,125,618 (GRCm39)	Y552H	probably damaging	Het
Mctp1	A	T	13: 76,973,860 (GRCm39)	T706S	probably damaging	Het
Med12l	A	G	3: 59,168,193 (GRCm39)	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,682,780 (GRCm39)	S165N	unknown	Het
Morn3	A	T	5: 123,184,692 (GRCm39)		probably null	Het
Nalcn	C	T	14: 123,697,824 (GRCm39)	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Or1j11	C	T	2: 36,311,886 (GRCm39)	H159Y	probably damaging	Het
Or2z2	G	A	11: 58,346,257 (GRCm39)	R173W	probably damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pcdhb5	T	C	18: 37,455,393 (GRCm39)	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Phactr3	C	A	2: 177,924,940 (GRCm39)	L292M	probably damaging	Het
Phf21b	T	A	15: 84,738,963 (GRCm39)	I21F	probably benign	Het
Pign	A	G	1: 105,482,223 (GRCm39)	V791A	probably damaging	Het
Pitpna	A	G	11: 75,499,929 (GRCm39)		probably null	Het
Piwil1	G	T	5: 128,824,903 (GRCm39)	E534*	probably null	Het
Plcz1	T	A	6: 139,938,775 (GRCm39)	I526F	probably benign	Het
Pms2	A	T	5: 143,862,714 (GRCm39)	K607I	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Polq	C	T	16: 36,882,471 (GRCm39)	T1545I	probably benign	Het
Psd4	G	A	2: 24,287,468 (GRCm39)	E467K	probably benign	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Qrsl1	C	T	10: 43,770,541 (GRCm39)	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669 (GRCm39)	C408Y	probably damaging	Het
Ralb	T	A	1: 119,403,797 (GRCm39)	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,763,151 (GRCm39)	K218E	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc17a8	A	T	10: 89,442,627 (GRCm39)	C69S	unknown	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,193,860 (GRCm39)		probably null	Het
Smarcal1	G	A	1: 72,625,258 (GRCm39)	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,026,644 (GRCm39)	R242*	probably null	Het
St3gal5	T	C	6: 72,109,077 (GRCm39)	L55P	probably damaging	Het
Sulf1	A	G	1: 12,908,661 (GRCm39)	N558S	probably benign	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,870,292 (GRCm39)	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,147,891 (GRCm39)	V187A	probably benign	Het
Tdrd9	G	A	12: 112,011,246 (GRCm39)	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,288,451 (GRCm39)	Y9H	probably benign	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trip12	T	A	1: 84,705,866 (GRCm39)	N655Y	probably damaging	Het
Ttn	A	G	2: 76,581,773 (GRCm39)	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,167,367 (GRCm39)	N188K	probably damaging	Het
Ube2c	C	T	2: 164,613,282 (GRCm39)	H67Y	probably damaging	Het
Unc80	C	A	1: 66,670,573 (GRCm39)	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,376,153 (GRCm39)	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,918,556 (GRCm39)	S112L	possibly damaging	Het
Wdfy3	A	T	5: 102,036,052 (GRCm39)	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,973,168 (GRCm39)	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zdhhc25	A	T	15: 88,484,689 (GRCm39)	H8L	probably benign	Het
Zfp455	A	T	13: 67,355,881 (GRCm39)	H383L	probably damaging	Het
Zfp663	A	G	2: 165,195,211 (GRCm39)	I336T	probably benign	Het
Zfp738	T	A	13: 67,818,476 (GRCm39)	H505L	probably damaging	Het
Zfp84	T	G	7: 29,474,796 (GRCm39)	F23V	possibly 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
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
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'- CAAATTAACCCCTGCCTCTGAG -3'
(R):5'- ATTCCATATCGAACATTGCCAC -3'

Sequencing Primer
(F):5'- GCCTCTGAGACTCTTTTCTCTTAC -3'
(R):5'- TCGAACATTGCCACATTAAAATTC -3'

Posted On

2014-06-23