Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Pzp'

228581

Institutional Source

Beutler Lab

Gene Symbol

Pzp

Ensembl Gene

ENSMUSG00000030359

Gene Name

PZP, alpha-2-macroglobulin like

Synonyms

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128483567-128526720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128483710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1494 (N1494K)

Ref Sequence

ENSEMBL: ENSMUSP00000107760 (fasta)

Gene Model

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

AlphaFold

Q61838

Predicted Effect

probably benign
Transcript: ENSMUST00000032510
AA Change: M1501K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: M1501K

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 benign
Transcript: ENSMUST00000112132
AA Change: N1494K

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: N1494K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abca14	G	A	7: 120,227,518	W462*	probably null	Het
Aftph	A	T	11: 20,692,571	Y821N	probably damaging	Het
Ahnak	A	T	19: 9,008,041	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,972,782	F144L	probably benign	Het
Arid4b	C	T	13: 14,195,452	R1178C	probably damaging	Het
Asb8	A	T	15: 98,141,373	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,205,114	N165S	probably damaging	Het
BC017158	A	G	7: 128,288,331	L176P	probably damaging	Het
Bod1l	A	T	5: 41,808,742	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,454,948	I825T	probably damaging	Het
C4b	A	G	17: 34,736,101	W804R	probably damaging	Het
Cadm3	A	T	1: 173,344,402	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982	F552L	probably benign	Het
Cdh7	G	C	1: 110,048,877	A91P	probably damaging	Het
Cela1	A	G	15: 100,675,322		probably null	Het
Clk3	T	C	9: 57,751,117	Y582C	probably damaging	Het
Cma1	C	T	14: 55,943,698		probably null	Het
Ctcfl	A	G	2: 173,118,506	S95P	probably benign	Het
Cylc1	C	A	X: 111,123,123	T391K	unknown	Het
Cyp3a11	T	A	5: 145,855,081	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,104,714	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,107,710	D226A	possibly damaging	Het
Dlec1	A	C	9: 119,112,086	T235P	probably damaging	Het
Dnaaf1	G	A	8: 119,590,602	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,178,003	R377W	probably damaging	Het
Dpep1	T	A	8: 123,200,391	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,159	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802	I596L	possibly damaging	Het
Edem1	T	A	6: 108,854,287	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,657,129	E9*	probably null	Het
Enpep	T	A	3: 129,280,523	N792Y	probably benign	Het
Enpp2	A	T	15: 54,875,714	M391K	probably damaging	Het
Fanca	A	C	8: 123,274,481	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,218,383	L74I	probably damaging	Het
Fchsd2	T	A	7: 101,277,417	F571L	probably benign	Het
Fhad1	T	C	4: 141,899,249	D1345G	probably benign	Het
G2e3	T	C	12: 51,372,606	F702L	probably damaging	Het
Glce	A	T	9: 62,060,946	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,657,119	D119G	probably benign	Het
Gpr137c	T	C	14: 45,244,159	I144T	probably damaging	Het
Gprin3	A	G	6: 59,354,519	C268R	possibly damaging	Het
Hadha	G	A	5: 30,128,836	T395M	probably benign	Het
Hdhd2	T	G	18: 76,965,042		probably null	Het
Homer2	C	T	7: 81,618,703	E70K	probably benign	Het
Hp1bp3	T	A	4: 138,240,672	D397E	probably damaging	Het
Hrh3	T	C	2: 180,101,250	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,381,552	V153A	probably benign	Het
Igf2r	A	T	17: 12,701,319	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,501,763	R279H	possibly damaging	Het
Itga10	A	T	3: 96,654,998	R699*	probably null	Het
Itpkb	A	G	1: 180,421,858	T933A	probably benign	Het
Itsn2	T	G	12: 4,627,879	F79V	probably damaging	Het
Jak3	C	A	8: 71,680,714	C350*	probably null	Het
Jak3	A	T	8: 71,683,415	K620*	probably null	Het
Kcnq5	T	C	1: 21,461,597	S421G	probably benign	Het
Kdm2b	A	T	5: 122,883,365	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,970,623	D170G	possibly damaging	Het
Lama3	A	T	18: 12,528,726	T2160S	probably benign	Het
Lman1	A	T	18: 65,998,352		probably benign	Het
Lmtk3	G	A	7: 45,800,911		probably null	Het
Ltb	A	G	17: 35,195,763	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,308,953	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,499,919		probably null	Het
Mast4	G	T	13: 102,738,846	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,711,562	S678N	probably damaging	Het
Mon2	A	T	10: 122,995,776	I1675N	probably damaging	Het
Mug2	A	G	6: 122,079,612	N1172S	probably benign	Het
Naa30	C	G	14: 49,173,099	S161R	possibly damaging	Het
Ncaph	T	C	2: 127,124,875	N220D	probably damaging	Het
Nell1	T	C	7: 50,560,830	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877	N142S	possibly damaging	Het
Nin	T	A	12: 70,042,418	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693		noncoding transcript	Het
Nrg1	T	G	8: 31,918,015	E63D	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1167	T	C	2: 88,149,143	Y292C	probably damaging	Het
Olfr128	A	G	17: 37,923,880	T105A	probably benign	Het
Olfr473	C	T	7: 107,933,661	T47M	probably benign	Het
Olfr522	T	A	7: 140,162,824	E42V	probably damaging	Het
Olfr845	A	G	9: 19,339,056	I199V	probably benign	Het
Olfr851	T	A	9: 19,497,237	V163E	possibly damaging	Het
Olfr867	A	T	9: 20,054,596	I289N	probably damaging	Het
Olfr998	G	A	2: 85,591,283	V248I	possibly damaging	Het
Orc5	C	T	5: 22,516,703		probably null	Het
Pard3	G	A	8: 127,398,604	R691Q	probably benign	Het
Pofut1	T	A	2: 153,243,660	D54E	probably benign	Het
Prl2c5	T	A	13: 13,190,653	V128E	probably damaging	Het
Ptk7	T	C	17: 46,566,238	M965V	possibly damaging	Het
Pum2	C	T	12: 8,728,726	R459*	probably null	Het
Rad21l	A	G	2: 151,645,429	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,810,108	M352K	possibly damaging	Het
Rpusd2	G	A	2: 119,037,215		probably null	Het
Rsph14	A	T	10: 75,029,771	D78E	probably damaging	Het
Rtl9	A	T	X: 143,102,030	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,612,940	H74L	probably damaging	Het
Rusc1	G	A	3: 89,087,848	T725I	possibly damaging	Het
Ryr2	C	T	13: 11,595,736	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,954,364	V224A	possibly damaging	Het
Shprh	A	T	10: 11,152,120	N157I	probably benign	Het
Siglece	A	G	7: 43,657,786	I67T	probably benign	Het
Slc9b2	A	T	3: 135,326,266	T296S	probably damaging	Het
Sorbs2	A	G	8: 45,775,629	K276E	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Taar7b	T	C	10: 24,000,675	I246T	possibly damaging	Het
Taldo1	A	G	7: 141,396,154	Y113C	probably damaging	Het
Tarbp1	A	T	8: 126,447,594		probably null	Het
Tars	C	T	15: 11,394,373	M59I	probably benign	Het
Tas2r130	G	A	6: 131,630,817	T5I	probably benign	Het
Tex48	T	C	4: 63,607,415	E77G	probably damaging	Het
Tmco5	A	G	2: 116,892,255	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,519,914	H243Q	probably benign	Het
Ttn	T	A	2: 76,734,294	R26754*	probably null	Het
Ttn	G	A	2: 76,897,580		probably benign	Het
Ubqln3	A	C	7: 104,142,151	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,873,566	R115*	probably null	Het
Umod	T	G	7: 119,476,715	N276T	probably damaging	Het
Unc13c	A	T	9: 73,665,656	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,640,595	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,774,795	D1442E	probably damaging	Het
Utp4	A	G	8: 106,898,521	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,427,209	N127K	probably benign	Het
Vmn2r75	T	A	7: 86,165,164	T374S	probably benign	Het
Washc5	A	G	15: 59,350,408	F523L	probably damaging	Het
Wdr3	A	T	3: 100,159,897		probably null	Het
Wdr89	T	C	12: 75,632,988	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,225,091	S550P	probably damaging	Het
Zfp69	T	C	4: 120,930,832	T429A	probably damaging	Het
Zfpm1	G	T	8: 122,336,592	G797C	probably benign	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
R0195:Pzp	UTSW	6	128487478	missense	probably damaging	1.00
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
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
R8680:Pzp	UTSW	6	128496046	missense	probably benign	0.00
R8795:Pzp	UTSW	6	128494738	missense	probably damaging	1.00
R8844:Pzp	UTSW	6	128523987	missense	probably damaging	1.00
R8964:Pzp	UTSW	6	128487499	missense	probably benign	0.05
R9043:Pzp	UTSW	6	128494779	missense	probably damaging	1.00
R9172:Pzp	UTSW	6	128525209	missense	probably benign	0.01
R9205:Pzp	UTSW	6	128496663	missense	probably benign	0.02
R9276:Pzp	UTSW	6	128522114	missense	probably damaging	1.00
R9432:Pzp	UTSW	6	128522165	missense
R9444:Pzp	UTSW	6	128510399	missense
R9517:Pzp	UTSW	6	128512154	critical splice donor site	probably null
R9721:Pzp	UTSW	6	128495191	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTATTGTTAAAAGTGCCACAGAG -3'
(R):5'- ACAGGGTCACTCTTTCACAAC -3'

Sequencing Primer
(F):5'- GCCACAGAGAATAAAAACCTTATTTC -3'
(R):5'- GGGTCACTCTTTCACAACCAATC -3'

Posted On

2014-09-17