Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Prdm2'

295102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm2

Ensembl Gene

ENSMUSG00000057637

Gene Name

PR domain containing 2, with ZNF domain

Synonyms

KMT8, LOC381568, E330024L24Rik, Riz1, Riz, 4833427P12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

143107391-143212995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143134929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 597 (L597P)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105778]

AlphaFold

A2A7B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105778
AA Change: L597P

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

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: L597P

Domain	Start	End	E-Value	Type
SET	29	146	2.79e-21	SMART
coiled coil region	254	293	N/A	INTRINSIC
low complexity region	333	346	N/A	INTRINSIC
ZnF_C2H2	356	378	2.95e-3	SMART
ZnF_C2H2	386	408	4.79e-3	SMART
ZnF_C2H2	477	500	4.17e-3	SMART
low complexity region	517	528	N/A	INTRINSIC
low complexity region	653	669	N/A	INTRINSIC
low complexity region	682	697	N/A	INTRINSIC
low complexity region	726	744	N/A	INTRINSIC
low complexity region	868	877	N/A	INTRINSIC
low complexity region	931	951	N/A	INTRINSIC
low complexity region	954	992	N/A	INTRINSIC
low complexity region	1011	1032	N/A	INTRINSIC
low complexity region	1035	1080	N/A	INTRINSIC
ZnF_C2H2	1126	1148	3.52e-1	SMART
ZnF_C2H2	1154	1177	7.55e-1	SMART
ZnF_C2H2	1183	1206	4.72e-2	SMART
low complexity region	1239	1253	N/A	INTRINSIC
ZnF_C2H2	1324	1344	5.12e1	SMART
low complexity region	1406	1423	N/A	INTRINSIC
ZnF_C2H2	1446	1466	1.86e1	SMART
low complexity region	1475	1507	N/A	INTRINSIC
low complexity region	1551	1568	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197026

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Arsj	T	C	3: 126,438,939	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,826,176	T31I	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Dync1i2	G	A	2: 71,235,979	V128I	probably damaging	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fcna	T	A	2: 25,625,260	Q237L	probably benign	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Rgs9	T	C	11: 109,225,652	S442G	possibly damaging	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	Het

Other mutations in Prdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Prdm2	APN	4	143,133,759 (GRCm38)	missense	probably damaging	0.99
IGL00843:Prdm2	APN	4	143,134,314 (GRCm38)	missense	probably damaging	1.00
IGL01419:Prdm2	APN	4	143,133,648 (GRCm38)	missense	probably damaging	0.99
IGL01662:Prdm2	APN	4	143,133,568 (GRCm38)	missense	possibly damaging	0.73
IGL01892:Prdm2	APN	4	143,134,404 (GRCm38)	missense	probably damaging	1.00
IGL02104:Prdm2	APN	4	143,133,427 (GRCm38)	missense	probably benign	0.01
IGL02208:Prdm2	APN	4	143,135,743 (GRCm38)	missense	probably benign	0.01
IGL02260:Prdm2	APN	4	143,134,587 (GRCm38)	missense	probably damaging	1.00
IGL02943:Prdm2	APN	4	143,131,972 (GRCm38)	missense	probably benign
IGL02972:Prdm2	APN	4	143,132,166 (GRCm38)	missense	probably benign
IGL03038:Prdm2	APN	4	143,134,001 (GRCm38)	missense	probably damaging	1.00
IGL03399:Prdm2	APN	4	143,135,088 (GRCm38)	missense	probably benign	0.07
G1patch:Prdm2	UTSW	4	143,132,901 (GRCm38)	missense	possibly damaging	0.96
PIT4677001:Prdm2	UTSW	4	143,135,078 (GRCm38)	missense	probably damaging	1.00
R0088:Prdm2	UTSW	4	143,134,954 (GRCm38)	missense	possibly damaging	0.86
R0153:Prdm2	UTSW	4	143,133,768 (GRCm38)	missense	possibly damaging	0.93
R0320:Prdm2	UTSW	4	143,179,351 (GRCm38)	missense	probably damaging	1.00
R0384:Prdm2	UTSW	4	143,135,688 (GRCm38)	missense	probably benign	0.01
R0400:Prdm2	UTSW	4	143,111,670 (GRCm38)	missense	probably benign
R0658:Prdm2	UTSW	4	143,135,265 (GRCm38)	missense	probably damaging	1.00
R0850:Prdm2	UTSW	4	143,132,203 (GRCm38)	missense	possibly damaging	0.53
R1118:Prdm2	UTSW	4	143,132,383 (GRCm38)	missense	possibly damaging	0.52
R1355:Prdm2	UTSW	4	143,131,963 (GRCm38)	missense	probably benign	0.33
R1519:Prdm2	UTSW	4	143,135,583 (GRCm38)	missense	probably damaging	1.00
R1936:Prdm2	UTSW	4	143,134,462 (GRCm38)	missense	probably benign	0.00
R1987:Prdm2	UTSW	4	143,132,509 (GRCm38)	missense	possibly damaging	0.73
R2006:Prdm2	UTSW	4	143,131,877 (GRCm38)	missense	possibly damaging	0.73
R2008:Prdm2	UTSW	4	143,134,947 (GRCm38)	missense	probably damaging	1.00
R2030:Prdm2	UTSW	4	143,132,764 (GRCm38)	missense	possibly damaging	0.53
R2112:Prdm2	UTSW	4	143,131,936 (GRCm38)	missense	probably benign
R2221:Prdm2	UTSW	4	143,134,899 (GRCm38)	missense	possibly damaging	0.58
R2223:Prdm2	UTSW	4	143,134,899 (GRCm38)	missense	possibly damaging	0.58
R2426:Prdm2	UTSW	4	143,111,750 (GRCm38)	nonsense	probably null
R2430:Prdm2	UTSW	4	143,133,163 (GRCm38)	missense	possibly damaging	0.73
R2484:Prdm2	UTSW	4	143,135,206 (GRCm38)	missense	probably damaging	1.00
R3735:Prdm2	UTSW	4	143,134,359 (GRCm38)	missense	probably damaging	1.00
R3944:Prdm2	UTSW	4	143,131,815 (GRCm38)	missense	possibly damaging	0.53
R4209:Prdm2	UTSW	4	143,134,437 (GRCm38)	missense	probably damaging	1.00
R4411:Prdm2	UTSW	4	143,133,670 (GRCm38)	missense	probably benign	0.18
R4647:Prdm2	UTSW	4	143,132,955 (GRCm38)	missense	possibly damaging	0.85
R4898:Prdm2	UTSW	4	143,134,191 (GRCm38)	missense	probably damaging	1.00
R5032:Prdm2	UTSW	4	143,179,367 (GRCm38)	nonsense	probably null
R5181:Prdm2	UTSW	4	143,134,966 (GRCm38)	missense	probably benign	0.35
R5513:Prdm2	UTSW	4	143,135,893 (GRCm38)	small deletion	probably benign
R5539:Prdm2	UTSW	4	143,132,694 (GRCm38)	missense	possibly damaging	0.53
R5563:Prdm2	UTSW	4	143,134,630 (GRCm38)	missense	probably benign	0.09
R5618:Prdm2	UTSW	4	143,133,537 (GRCm38)	missense	probably benign	0.00
R5900:Prdm2	UTSW	4	143,134,720 (GRCm38)	missense	probably damaging	1.00
R5990:Prdm2	UTSW	4	143,170,113 (GRCm38)	missense	probably damaging	1.00
R6148:Prdm2	UTSW	4	143,132,907 (GRCm38)	missense	probably benign	0.33
R6166:Prdm2	UTSW	4	143,134,736 (GRCm38)	missense	probably damaging	0.99
R6223:Prdm2	UTSW	4	143,142,207 (GRCm38)	missense	probably benign	0.41
R6530:Prdm2	UTSW	4	143,134,047 (GRCm38)	missense	probably benign	0.05
R6631:Prdm2	UTSW	4	143,134,884 (GRCm38)	missense	probably benign	0.05
R6725:Prdm2	UTSW	4	143,132,901 (GRCm38)	missense	possibly damaging	0.96
R6847:Prdm2	UTSW	4	143,132,950 (GRCm38)	missense	probably benign	0.18
R7193:Prdm2	UTSW	4	143,180,894 (GRCm38)	missense	probably damaging	1.00
R7238:Prdm2	UTSW	4	143,135,821 (GRCm38)	missense	probably benign	0.35
R7292:Prdm2	UTSW	4	143,132,901 (GRCm38)	missense	possibly damaging	0.96
R7417:Prdm2	UTSW	4	143,179,299 (GRCm38)	missense	probably damaging	1.00
R7748:Prdm2	UTSW	4	143,135,889 (GRCm38)	missense	possibly damaging	0.89
R7885:Prdm2	UTSW	4	143,134,570 (GRCm38)	missense	probably benign	0.41
R7936:Prdm2	UTSW	4	143,135,864 (GRCm38)	missense	probably damaging	0.99
R7976:Prdm2	UTSW	4	143,133,242 (GRCm38)	nonsense	probably null
R8124:Prdm2	UTSW	4	143,135,265 (GRCm38)	missense	probably damaging	1.00
R8150:Prdm2	UTSW	4	143,132,733 (GRCm38)	missense	possibly damaging	0.73
R8156:Prdm2	UTSW	4	143,134,768 (GRCm38)	missense	probably benign	0.01
R8178:Prdm2	UTSW	4	143,132,448 (GRCm38)	missense	probably benign	0.33
R8235:Prdm2	UTSW	4	143,132,467 (GRCm38)	nonsense	probably null
R8404:Prdm2	UTSW	4	143,135,014 (GRCm38)	missense	probably damaging	0.98
R8498:Prdm2	UTSW	4	143,180,897 (GRCm38)	missense	probably damaging	1.00
R8502:Prdm2	UTSW	4	143,135,014 (GRCm38)	missense	probably damaging	0.98
R8688:Prdm2	UTSW	4	143,111,740 (GRCm38)	missense	probably benign
R8732:Prdm2	UTSW	4	143,136,010 (GRCm38)	missense	probably benign	0.00
R8796:Prdm2	UTSW	4	143,133,447 (GRCm38)	missense	probably benign	0.33
R8874:Prdm2	UTSW	4	143,133,215 (GRCm38)	missense	possibly damaging	0.70
R8887:Prdm2	UTSW	4	143,134,201 (GRCm38)	missense	probably damaging	1.00
R9119:Prdm2	UTSW	4	143,131,879 (GRCm38)	nonsense	probably null
R9139:Prdm2	UTSW	4	143,132,182 (GRCm38)	missense	probably benign	0.03
R9165:Prdm2	UTSW	4	143,132,104 (GRCm38)	missense	possibly damaging	0.73
R9342:Prdm2	UTSW	4	143,134,908 (GRCm38)	missense	probably damaging	1.00
R9518:Prdm2	UTSW	4	143,134,009 (GRCm38)	missense	possibly damaging	0.94
R9546:Prdm2	UTSW	4	143,134,991 (GRCm38)	missense	probably damaging	1.00
R9547:Prdm2	UTSW	4	143,134,991 (GRCm38)	missense	probably damaging	1.00
R9680:Prdm2	UTSW	4	143,132,509 (GRCm38)	missense	possibly damaging	0.73
R9730:Prdm2	UTSW	4	143,132,089 (GRCm38)	missense	possibly damaging	0.73
X0017:Prdm2	UTSW	4	143,134,707 (GRCm38)	missense	probably benign

Posted On

2015-04-16