Mutagenetix > Incidental Mutations

Incidental Mutation 'R0195:Pzp'

23365

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

038454-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128483567-128526720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128487478 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1362 (L1362Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032510
AA Change: L1362Q

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

SMART Domains

Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: L1362Q

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: L1362Q

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

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: L1362Q

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: ENSMUST00000204037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204291

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,512,974	R362P	possibly damaging	Het
Adam24	T	A	8: 40,681,766	W758R	probably benign	Het
Adam26b	G	T	8: 43,520,270	T565K	probably damaging	Het
Adam7	T	G	14: 68,527,627		probably benign	Het
Adamts19	A	G	18: 58,969,870		probably benign	Het
Add1	A	G	5: 34,610,646		probably benign	Het
Ago1	A	G	4: 126,463,691	C64R	probably benign	Het
Ankrd12	C	T	17: 66,049,948		probably null	Het
Arhgef33	A	G	17: 80,381,434	K820E	probably damaging	Het
Arl9	T	C	5: 77,006,494	V8A	probably damaging	Het
Aspm	T	C	1: 139,479,135	L1920P	probably damaging	Het
Atad2	A	G	15: 58,099,954		probably benign	Het
Atp2b2	A	T	6: 113,793,874	V358E	probably benign	Het
C3ar1	A	C	6: 122,851,155	C34W	possibly damaging	Het
C6	G	A	15: 4,763,471	V353M	probably benign	Het
Capn7	T	C	14: 31,365,581	I593T	probably damaging	Het
Casc3	T	A	11: 98,821,493	D119E	probably damaging	Het
Ccna1	T	A	3: 55,054,364	E45V	probably damaging	Het
Cdc37	A	G	9: 21,142,280	V180A	probably benign	Het
Cdh23	A	G	10: 60,317,059	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cngb3	A	T	4: 19,280,975	M15L	probably benign	Het
Crygn	A	G	5: 24,756,038	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,940,088	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,364,321		noncoding transcript	Het
Ddx24	C	T	12: 103,418,961		probably null	Het
Dnah3	A	T	7: 120,077,775		probably null	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,276,161	T342S	probably benign	Het
Evx2	G	T	2: 74,659,044	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,770,798	L40Q	probably damaging	Het
Git1	T	A	11: 77,501,073	D240E	probably benign	Het
Glp2r	T	A	11: 67,709,708	K438N	probably damaging	Het
Gm4778	A	G	3: 94,265,922	Y79C	possibly damaging	Het
Hivep1	T	A	13: 42,156,153	I623N	probably benign	Het
Il17re	A	G	6: 113,466,137	E312G	probably damaging	Het
Itgb7	G	A	15: 102,222,183		probably benign	Het
Itpr3	A	G	17: 27,114,114	Y1900C	probably damaging	Het
Krt2	G	A	15: 101,813,191	Q472*	probably null	Het
Krtap5-1	A	C	7: 142,296,697	C125G	unknown	Het
Macf1	A	G	4: 123,434,916	S2554P	probably damaging	Het
March10	C	T	11: 105,385,525	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,546,353		probably benign	Het
Myo16	A	T	8: 10,315,538		probably benign	Het
Nrcam	A	T	12: 44,584,845	E1060D	probably benign	Het
Nsd3	T	A	8: 25,680,693	C731S	probably damaging	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Nxnl2	G	T	13: 51,171,447	R42L	probably damaging	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Orc1	C	T	4: 108,614,308	R786*	probably null	Het
P2ry6	A	T	7: 100,938,697	W152R	probably damaging	Het
Pex5l	T	C	3: 32,992,953	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,207,731	I269V	probably benign	Het
Phgdh	T	G	3: 98,316,550		probably benign	Het
Rbbp9	T	C	2: 144,548,106		probably benign	Het
Rffl	A	G	11: 82,810,163	L244P	probably damaging	Het
Serpina11	T	C	12: 103,985,872	Y213C	probably damaging	Het
Srsf11	A	G	3: 158,036,535		probably benign	Het
Sspo	T	A	6: 48,486,636	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,293,059	D74V	probably damaging	Het
Tmprss15	T	A	16: 79,034,334	T393S	probably benign	Het
Tnfaip3	A	G	10: 19,005,713	L275P	probably damaging	Het
Trim30c	A	G	7: 104,382,429	V393A	probably benign	Het
Tssk2	T	A	16: 17,899,575	S281T	probably benign	Het
Tubb4a	A	G	17: 57,081,499	S176P	probably damaging	Het
Unc45b	T	A	11: 82,937,828	M785K	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,835,585	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,574,055	L784Q	probably benign	Het
Vps13b	A	G	15: 35,471,899	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,847	M373T	probably damaging	Het
Zmym1	A	G	4: 127,047,911	F895L	possibly damaging	Het

Other mutations in Pzp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Pzp	APN	6	128516909	missense	probably benign	0.25
IGL01470:Pzp	APN	6	128521124	missense	probably benign	0.05
IGL01753:Pzp	APN	6	128502183	missense	possibly damaging	0.78
IGL01878:Pzp	APN	6	128495298	missense	probably damaging	1.00
IGL02307:Pzp	APN	6	128489086	nonsense	probably null
IGL02338:Pzp	APN	6	128486170	missense	probably benign	0.07
IGL02546:Pzp	APN	6	128494699	splice site	probably benign
IGL02598:Pzp	APN	6	128487457	missense	probably benign	0.00
IGL02699:Pzp	APN	6	128487401	critical splice donor site	probably null
lilibet	UTSW	6	128513773	missense	probably damaging	0.99
P4748:Pzp	UTSW	6	128490089	missense	probably damaging	1.00
PIT4151001:Pzp	UTSW	6	128525296	missense	probably benign	0.34
PIT4495001:Pzp	UTSW	6	128502229	missense	probably benign
R0157:Pzp	UTSW	6	128523976	nonsense	probably null
R0238:Pzp	UTSW	6	128489156	splice site	probably benign
R0239:Pzp	UTSW	6	128489156	splice site	probably benign
R0271:Pzp	UTSW	6	128519514	missense	probably damaging	1.00
R0299:Pzp	UTSW	6	128495330	splice site	probably benign
R0744:Pzp	UTSW	6	128516195	unclassified	probably benign
R0968:Pzp	UTSW	6	128525145	missense	probably benign	0.00
R1037:Pzp	UTSW	6	128519426	missense	probably benign	0.01
R1074:Pzp	UTSW	6	128487924	missense	probably benign	0.20
R1469:Pzp	UTSW	6	128512356	missense	probably benign	0.04
R1469:Pzp	UTSW	6	128512356	missense	probably benign	0.04
R1579:Pzp	UTSW	6	128523968	critical splice donor site	probably null
R1646:Pzp	UTSW	6	128503555	missense	probably benign	0.33
R1770:Pzp	UTSW	6	128485617	missense	probably damaging	1.00
R1777:Pzp	UTSW	6	128490572	missense	possibly damaging	0.85
R1786:Pzp	UTSW	6	128491161	splice site	probably null
R1854:Pzp	UTSW	6	128502225	missense	probably damaging	1.00
R2001:Pzp	UTSW	6	128516120	missense	probably benign	0.01
R2060:Pzp	UTSW	6	128483710	missense	probably benign	0.45
R2081:Pzp	UTSW	6	128519420	missense	probably benign	0.00
R2130:Pzp	UTSW	6	128491161	splice site	probably null
R2131:Pzp	UTSW	6	128491161	splice site	probably null
R2160:Pzp	UTSW	6	128525276	missense	probably damaging	1.00
R2168:Pzp	UTSW	6	128488047	missense	probably damaging	0.98
R2328:Pzp	UTSW	6	128510390	missense	possibly damaging	0.79
R2441:Pzp	UTSW	6	128489768	nonsense	probably null
R2866:Pzp	UTSW	6	128525264	missense	possibly damaging	0.76
R2869:Pzp	UTSW	6	128485556	critical splice donor site	probably null
R2869:Pzp	UTSW	6	128485556	critical splice donor site	probably null
R2870:Pzp	UTSW	6	128485556	critical splice donor site	probably null
R2870:Pzp	UTSW	6	128485556	critical splice donor site	probably null
R2873:Pzp	UTSW	6	128485556	critical splice donor site	probably null
R2876:Pzp	UTSW	6	128491550	missense	probably damaging	1.00
R3404:Pzp	UTSW	6	128513806	missense	probably damaging	1.00
R4452:Pzp	UTSW	6	128491240	missense	probably damaging	1.00
R4461:Pzp	UTSW	6	128524040	missense	probably benign	0.02
R5103:Pzp	UTSW	6	128502229	missense	probably benign	0.04
R5193:Pzp	UTSW	6	128502334	missense	probably benign	0.00
R5425:Pzp	UTSW	6	128489048	missense	probably damaging	0.97
R5465:Pzp	UTSW	6	128486961	missense	probably damaging	1.00
R5590:Pzp	UTSW	6	128523796	missense	probably damaging	1.00
R5656:Pzp	UTSW	6	128490072	missense	probably damaging	0.99
R5697:Pzp	UTSW	6	128525189	missense	probably benign	0.03
R5854:Pzp	UTSW	6	128506869	missense	probably benign	0.01
R5994:Pzp	UTSW	6	128491597	missense	probably damaging	1.00
R6042:Pzp	UTSW	6	128524014	missense	possibly damaging	0.75
R6054:Pzp	UTSW	6	128513764	missense	probably benign	0.03
R6153:Pzp	UTSW	6	128489016	missense	probably benign
R6465:Pzp	UTSW	6	128491619	missense	probably damaging	1.00
R6719:Pzp	UTSW	6	128524083	missense	probably benign	0.17
R6722:Pzp	UTSW	6	128487954	missense	probably damaging	1.00
R7316:Pzp	UTSW	6	128513773	missense	probably damaging	0.99
R7453:Pzp	UTSW	6	128486916	missense	probably damaging	1.00
R7826:Pzp	UTSW	6	128487533	missense	probably benign	0.38
R7878:Pzp	UTSW	6	128512311	missense	possibly damaging	0.50
R7879:Pzp	UTSW	6	128489016	missense	probably benign
R8113:Pzp	UTSW	6	128513731	splice site	probably null
R8163:Pzp	UTSW	6	128512194	missense	probably benign	0.00
R8471:Pzp	UTSW	6	128487448	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TCCTTTGACAGAGGTTAGCGTCCC -3'
(R):5'- AGATCTGCCCGGAAATTACGTCAC -3'

Sequencing Primer
(F):5'- AGGTTAGCGTCCCCCTCC -3'
(R):5'- tcaggaggcagaggcag -3'

Posted On

2013-04-16