Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:Prdm2'

435816

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

043097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143107391-143212995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143132694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1342 (H1342R)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105778
AA Change: H1342R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: H1342R

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,029 (GRCm38)	S44C	probably damaging	Het
Abca4	A	G	3: 122,169,908 (GRCm38)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,638,522 (GRCm38)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm38)	L144H	probably benign	Het
Ccdc141	A	T	2: 77,015,093 (GRCm38)	I1210N	probably damaging	Het
Ccdc175	T	C	12: 72,144,813 (GRCm38)	T330A	probably benign	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dnah17	T	C	11: 118,073,660 (GRCm38)	K2444E	probably benign	Het
Dnajc3	G	A	14: 118,970,747 (GRCm38)	V265M	probably damaging	Het
Flg2	T	A	3: 93,220,446 (GRCm38)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,230 (GRCm38)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,138,721 (GRCm38)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,461,395 (GRCm38)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm38)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,248,650 (GRCm38)		noncoding transcript	Het
Kri1	G	A	9: 21,279,372 (GRCm38)	Q280*	probably null	Het
Lcp1	T	C	14: 75,229,298 (GRCm38)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,327,724 (GRCm38)	Y407C	probably damaging	Het
Med30	G	T	15: 52,721,066 (GRCm38)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,514,893 (GRCm38)	V416A	probably benign	Het
Notch2	C	T	3: 98,137,582 (GRCm38)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm38)		probably null	Het
Ntf5	G	T	7: 45,415,930 (GRCm38)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,890,671 (GRCm38)	W2R	possibly damaging	Het
Olfr115	T	A	17: 37,610,755 (GRCm38)	M1L	probably benign	Het
Olfr24	G	A	9: 18,754,838 (GRCm38)	R266C	probably damaging	Het
Olfr482	A	T	7: 108,095,226 (GRCm38)	C115S	probably benign	Het
Olfr934	T	C	9: 38,982,277 (GRCm38)	I256V	possibly damaging	Het
Pan2	C	A	10: 128,308,133 (GRCm38)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,281,744 (GRCm38)	H776R	possibly damaging	Het
Prpf8	A	G	11: 75,503,638 (GRCm38)	T1800A	probably benign	Het
Prss40	T	C	1: 34,552,679 (GRCm38)	*148W	probably null	Het
Pygo1	C	T	9: 72,944,779 (GRCm38)	P83S	probably damaging	Het
Raf1	G	T	6: 115,619,356 (GRCm38)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,729,924 (GRCm38)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,987,206 (GRCm38)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,176,802 (GRCm38)	V18A	probably damaging	Het
Spata31	T	A	13: 64,922,969 (GRCm38)	I977K	probably benign	Het
Tor2a	T	C	2: 32,760,660 (GRCm38)	I222T	probably damaging	Het
Trim23	T	C	13: 104,198,033 (GRCm38)	V347A	probably damaging	Het
Trip11	A	G	12: 101,885,127 (GRCm38)	S893P	probably damaging	Het
Trmt10c	G	A	16: 56,034,961 (GRCm38)	P104S	probably damaging	Het
Ubr3	A	T	2: 70,020,533 (GRCm38)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,814,846 (GRCm38)	E285K	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
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
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

Predicted Primers

PCR Primer
(F):5'- GATCGCTTTCTGTACCAGCTG -3'
(R):5'- TACCCGAGCTTTAAGCCAC -3'

Sequencing Primer
(F):5'- GGAGACATTTTGCTGAGTTCAAC -3'
(R):5'- GAGCTTTAAGCCACCTCCATTTCAG -3'

Posted On

2016-10-24