Mutagenetix > Incidental Mutation

Incidental Mutation 'R6530:Prdm2'

522257

Institutional Source

Beutler Lab

Gene Symbol

Prdm2

Ensembl Gene

ENSMUSG00000057637

Gene Name

PR domain containing 2, with ZNF domain

Synonyms

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

MMRRC Submission

044656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143107391-143212995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143134047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 891 (V891G)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: V891G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: V891G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,588,695 (GRCm38)	L74P	possibly damaging	Het
Adamtsl4	T	C	3: 95,681,054 (GRCm38)	T575A	probably benign	Het
Adck5	T	G	15: 76,593,847 (GRCm38)	D224E	probably benign	Het
Asic4	A	G	1: 75,472,335 (GRCm38)	N376S	probably damaging	Het
Atl3	T	A	19: 7,522,134 (GRCm38)	D254E	probably benign	Het
Cacnb2	G	T	2: 14,975,167 (GRCm38)	A274S	probably damaging	Het
Car2	T	C	3: 14,896,731 (GRCm38)	V159A	probably benign	Het
Ccdc138	G	C	10: 58,544,968 (GRCm38)	G474R	probably damaging	Het
Coq7	T	C	7: 118,525,335 (GRCm38)	T203A	probably benign	Het
Dnah12	T	C	14: 26,735,710 (GRCm38)	I877T	probably damaging	Het
Dnah7a	C	T	1: 53,503,697 (GRCm38)	R2438H	probably benign	Het
Efhc1	T	A	1: 20,961,142 (GRCm38)		probably null	Het
Fbn1	G	A	2: 125,389,270 (GRCm38)	R459C	probably damaging	Het
Fer1l4	A	G	2: 156,047,865 (GRCm38)		probably null	Het
Gm38394	A	G	1: 133,659,201 (GRCm38)	S133P	probably damaging	Het
Gm5114	G	A	7: 39,408,090 (GRCm38)	P702S	probably damaging	Het
Gm9047	G	A	6: 29,471,951 (GRCm38)		probably null	Het
Inpp5f	T	A	7: 128,664,078 (GRCm38)	Y182*	probably null	Het
Irf6	C	T	1: 193,157,349 (GRCm38)	T44M	probably damaging	Het
Loxhd1	A	G	18: 77,412,151 (GRCm38)	N87S	probably benign	Het
Mtrf1	A	T	14: 79,402,891 (GRCm38)	Q162L	possibly damaging	Het
Myoz3	G	T	18: 60,579,520 (GRCm38)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343 (GRCm38)		probably null	Het
Nkd2	C	T	13: 73,822,690 (GRCm38)	G258R	probably null	Het
Olfr1065	A	C	2: 86,445,482 (GRCm38)	S167A	probably benign	Het
Parg	T	C	14: 32,209,199 (GRCm38)	S176P	probably damaging	Het
Rasl10a	T	A	11: 5,058,367 (GRCm38)	I21N	probably damaging	Het
Reg4	T	C	3: 98,224,832 (GRCm38)	V20A	probably benign	Het
Shprh	T	A	10: 11,194,267 (GRCm38)	S1462R	probably benign	Het
Sult1e1	T	C	5: 87,576,288 (GRCm38)	E270G	probably benign	Het
Trpm7	A	C	2: 126,812,711 (GRCm38)	F1436V	probably damaging	Het
Ttc33	A	G	15: 5,212,122 (GRCm38)		probably null	Het
Ucp2	A	T	7: 100,498,223 (GRCm38)	E161D	probably benign	Het
Vmn2r79	T	C	7: 87,002,044 (GRCm38)	F217S	possibly damaging	Het
Wdr93	G	A	7: 79,755,993 (GRCm38)	A207T	probably damaging	Het
Zfp949	T	C	9: 88,567,287 (GRCm38)		probably null	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
IGL02479:Prdm2	APN	4	143,134,929 (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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTCTGTGGGGATCAAG -3'
(R):5'- ATCCAGCGGTGTCAAACAG -3'

Sequencing Primer
(F):5'- CTCTGTGGGGATCAAGAGAGG -3'
(R):5'- CCAGCGGTGTCAAACAGAAGTC -3'

Posted On

2018-06-06