Mutagenetix > Incidental Mutation

Incidental Mutation 'R8498:Prdm2'

658363

Institutional Source

Beutler Lab

Gene Symbol

Prdm2

Ensembl Gene

ENSMUSG00000057637

Gene Name

PR domain containing 2, with ZNF domain

Synonyms

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

MMRRC Submission

067940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142907467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 35 (A35V)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105778] [ENSMUST00000134791] [ENSMUST00000154280]

AlphaFold

A2A7B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105778
AA Change: A35V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: A35V

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

possibly damaging
Transcript: ENSMUST00000134791
AA Change: A35V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116458
Gene: ENSMUSG00000057637
AA Change: A35V

Domain	Start	End	E-Value	Type
SET	29	137	1.35e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154280
AA Change: A35V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117741
Gene: ENSMUSG00000057637
AA Change: A35V

Domain	Start	End	E-Value	Type
SET	29	146	2.79e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,096,872 (GRCm39)		probably null	Het
Amigo1	A	G	3: 108,095,751 (GRCm39)	M417V	probably benign	Het
Celsr1	G	T	15: 85,823,306 (GRCm39)	Q1701K	probably benign	Het
Cfhr2	G	T	1: 139,741,219 (GRCm39)	T252K	possibly damaging	Het
Cntnap4	T	A	8: 113,602,211 (GRCm39)	V1205E	possibly damaging	Het
Ctsb	T	C	14: 63,370,881 (GRCm39)	I31T	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dna2	A	G	10: 62,809,094 (GRCm39)	D1062G	probably benign	Het
Dnah7a	A	C	1: 53,657,139 (GRCm39)	M879R	probably benign	Het
Gcc1	C	A	6: 28,418,029 (GRCm39)	S768I	probably benign	Het
Gm29106	T	C	1: 118,128,218 (GRCm39)	Y637H	probably damaging	Het
Gm4787	T	C	12: 81,425,840 (GRCm39)	D106G	probably damaging	Het
Gm527	T	A	12: 64,967,782 (GRCm39)	V68D	probably damaging	Het
Grm1	A	T	10: 10,955,605 (GRCm39)	Y226*	probably null	Het
Hkdc1	T	C	10: 62,221,662 (GRCm39)	R799G	probably benign	Het
Ier2	T	C	8: 85,389,353 (GRCm39)	I10V	probably damaging	Het
Ifi209	A	G	1: 173,470,069 (GRCm39)	N219S	probably benign	Het
Iqcn	T	C	8: 71,162,625 (GRCm39)	I606T	probably benign	Het
Krt88	A	G	15: 101,351,406 (GRCm39)	S138G	probably benign	Het
Lrrc3	T	C	10: 77,736,824 (GRCm39)	D204G	probably damaging	Het
Mllt6	T	C	11: 97,567,688 (GRCm39)	I705T	possibly damaging	Het
Mpl	G	A	4: 118,306,207 (GRCm39)	P278S	probably benign	Het
Nkx3-2	T	C	5: 41,920,989 (GRCm39)	E100G	probably benign	Het
Or13p8	A	T	4: 118,583,822 (GRCm39)	Y126F	possibly damaging	Het
Or56b1b	A	T	7: 108,164,833 (GRCm39)	C56*	probably null	Het
Or8b12b	G	A	9: 37,684,560 (GRCm39)	V202M	probably damaging	Het
Pcdh15	G	A	10: 74,317,974 (GRCm39)	V992I	probably damaging	Het
Pcdhgc5	A	G	18: 37,953,487 (GRCm39)	N254D	probably damaging	Het
Pdgfd	A	G	9: 6,288,655 (GRCm39)	E103G	probably damaging	Het
Ppp2r1b	C	T	9: 50,778,194 (GRCm39)	R304*	probably null	Het
Pramel30	A	G	4: 144,058,233 (GRCm39)	D280G	probably benign	Het
Psd	T	C	19: 46,312,788 (GRCm39)	N194S	probably damaging	Het
Rasgef1c	A	T	11: 49,862,248 (GRCm39)	E379V	probably damaging	Het
Rnf43	A	T	11: 87,618,267 (GRCm39)	I186F	probably damaging	Het
Ros1	C	T	10: 52,055,047 (GRCm39)	C85Y	probably damaging	Het
Setd2	T	A	9: 110,378,989 (GRCm39)	L935I	probably damaging	Het
Slc2a5	A	G	4: 150,210,590 (GRCm39)	Q46R	probably benign	Het
Ss18l1	A	T	2: 179,699,968 (GRCm39)	Q276L	probably damaging	Het
Tas2r129	A	T	6: 132,928,815 (GRCm39)	M251L	probably benign	Het
Thoc1	A	G	18: 9,989,693 (GRCm39)	E458G	probably benign	Het
Wdr35	T	A	12: 9,058,626 (GRCm39)	N594K	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	probably damaging	Het

Other mutations in Prdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Prdm2	APN	4	142,860,329 (GRCm39)	missense	probably damaging	0.99
IGL00843:Prdm2	APN	4	142,860,884 (GRCm39)	missense	probably damaging	1.00
IGL01419:Prdm2	APN	4	142,860,218 (GRCm39)	missense	probably damaging	0.99
IGL01662:Prdm2	APN	4	142,860,138 (GRCm39)	missense	possibly damaging	0.73
IGL01892:Prdm2	APN	4	142,860,974 (GRCm39)	missense	probably damaging	1.00
IGL02104:Prdm2	APN	4	142,859,997 (GRCm39)	missense	probably benign	0.01
IGL02208:Prdm2	APN	4	142,862,313 (GRCm39)	missense	probably benign	0.01
IGL02260:Prdm2	APN	4	142,861,157 (GRCm39)	missense	probably damaging	1.00
IGL02479:Prdm2	APN	4	142,861,499 (GRCm39)	missense	probably damaging	1.00
IGL02943:Prdm2	APN	4	142,858,542 (GRCm39)	missense	probably benign
IGL02972:Prdm2	APN	4	142,858,736 (GRCm39)	missense	probably benign
IGL03038:Prdm2	APN	4	142,860,571 (GRCm39)	missense	probably damaging	1.00
IGL03399:Prdm2	APN	4	142,861,658 (GRCm39)	missense	probably benign	0.07
G1patch:Prdm2	UTSW	4	142,859,471 (GRCm39)	missense	possibly damaging	0.96
PIT4677001:Prdm2	UTSW	4	142,861,648 (GRCm39)	missense	probably damaging	1.00
R0088:Prdm2	UTSW	4	142,861,524 (GRCm39)	missense	possibly damaging	0.86
R0153:Prdm2	UTSW	4	142,860,338 (GRCm39)	missense	possibly damaging	0.93
R0320:Prdm2	UTSW	4	142,905,921 (GRCm39)	missense	probably damaging	1.00
R0384:Prdm2	UTSW	4	142,862,258 (GRCm39)	missense	probably benign	0.01
R0400:Prdm2	UTSW	4	142,838,240 (GRCm39)	missense	probably benign
R0658:Prdm2	UTSW	4	142,861,835 (GRCm39)	missense	probably damaging	1.00
R0850:Prdm2	UTSW	4	142,858,773 (GRCm39)	missense	possibly damaging	0.53
R1118:Prdm2	UTSW	4	142,858,953 (GRCm39)	missense	possibly damaging	0.52
R1355:Prdm2	UTSW	4	142,858,533 (GRCm39)	missense	probably benign	0.33
R1519:Prdm2	UTSW	4	142,862,153 (GRCm39)	missense	probably damaging	1.00
R1936:Prdm2	UTSW	4	142,861,032 (GRCm39)	missense	probably benign	0.00
R1987:Prdm2	UTSW	4	142,859,079 (GRCm39)	missense	possibly damaging	0.73
R2006:Prdm2	UTSW	4	142,858,447 (GRCm39)	missense	possibly damaging	0.73
R2008:Prdm2	UTSW	4	142,861,517 (GRCm39)	missense	probably damaging	1.00
R2030:Prdm2	UTSW	4	142,859,334 (GRCm39)	missense	possibly damaging	0.53
R2112:Prdm2	UTSW	4	142,858,506 (GRCm39)	missense	probably benign
R2221:Prdm2	UTSW	4	142,861,469 (GRCm39)	missense	possibly damaging	0.58
R2223:Prdm2	UTSW	4	142,861,469 (GRCm39)	missense	possibly damaging	0.58
R2426:Prdm2	UTSW	4	142,838,320 (GRCm39)	nonsense	probably null
R2430:Prdm2	UTSW	4	142,859,733 (GRCm39)	missense	possibly damaging	0.73
R2484:Prdm2	UTSW	4	142,861,776 (GRCm39)	missense	probably damaging	1.00
R3735:Prdm2	UTSW	4	142,860,929 (GRCm39)	missense	probably damaging	1.00
R3944:Prdm2	UTSW	4	142,858,385 (GRCm39)	missense	possibly damaging	0.53
R4209:Prdm2	UTSW	4	142,861,007 (GRCm39)	missense	probably damaging	1.00
R4411:Prdm2	UTSW	4	142,860,240 (GRCm39)	missense	probably benign	0.18
R4647:Prdm2	UTSW	4	142,859,525 (GRCm39)	missense	possibly damaging	0.85
R4898:Prdm2	UTSW	4	142,860,761 (GRCm39)	missense	probably damaging	1.00
R5032:Prdm2	UTSW	4	142,905,937 (GRCm39)	nonsense	probably null
R5181:Prdm2	UTSW	4	142,861,536 (GRCm39)	missense	probably benign	0.35
R5513:Prdm2	UTSW	4	142,862,463 (GRCm39)	small deletion	probably benign
R5539:Prdm2	UTSW	4	142,859,264 (GRCm39)	missense	possibly damaging	0.53
R5563:Prdm2	UTSW	4	142,861,200 (GRCm39)	missense	probably benign	0.09
R5618:Prdm2	UTSW	4	142,860,107 (GRCm39)	missense	probably benign	0.00
R5900:Prdm2	UTSW	4	142,861,290 (GRCm39)	missense	probably damaging	1.00
R5990:Prdm2	UTSW	4	142,896,683 (GRCm39)	missense	probably damaging	1.00
R6148:Prdm2	UTSW	4	142,859,477 (GRCm39)	missense	probably benign	0.33
R6166:Prdm2	UTSW	4	142,861,306 (GRCm39)	missense	probably damaging	0.99
R6223:Prdm2	UTSW	4	142,868,777 (GRCm39)	missense	probably benign	0.41
R6530:Prdm2	UTSW	4	142,860,617 (GRCm39)	missense	probably benign	0.05
R6631:Prdm2	UTSW	4	142,861,454 (GRCm39)	missense	probably benign	0.05
R6725:Prdm2	UTSW	4	142,859,471 (GRCm39)	missense	possibly damaging	0.96
R6847:Prdm2	UTSW	4	142,859,520 (GRCm39)	missense	probably benign	0.18
R7193:Prdm2	UTSW	4	142,907,464 (GRCm39)	missense	probably damaging	1.00
R7238:Prdm2	UTSW	4	142,862,391 (GRCm39)	missense	probably benign	0.35
R7292:Prdm2	UTSW	4	142,859,471 (GRCm39)	missense	possibly damaging	0.96
R7417:Prdm2	UTSW	4	142,905,869 (GRCm39)	missense	probably damaging	1.00
R7748:Prdm2	UTSW	4	142,862,459 (GRCm39)	missense	possibly damaging	0.89
R7885:Prdm2	UTSW	4	142,861,140 (GRCm39)	missense	probably benign	0.41
R7936:Prdm2	UTSW	4	142,862,434 (GRCm39)	missense	probably damaging	0.99
R7976:Prdm2	UTSW	4	142,859,812 (GRCm39)	nonsense	probably null
R8124:Prdm2	UTSW	4	142,861,835 (GRCm39)	missense	probably damaging	1.00
R8150:Prdm2	UTSW	4	142,859,303 (GRCm39)	missense	possibly damaging	0.73
R8156:Prdm2	UTSW	4	142,861,338 (GRCm39)	missense	probably benign	0.01
R8178:Prdm2	UTSW	4	142,859,018 (GRCm39)	missense	probably benign	0.33
R8235:Prdm2	UTSW	4	142,859,037 (GRCm39)	nonsense	probably null
R8404:Prdm2	UTSW	4	142,861,584 (GRCm39)	missense	probably damaging	0.98
R8502:Prdm2	UTSW	4	142,861,584 (GRCm39)	missense	probably damaging	0.98
R8688:Prdm2	UTSW	4	142,838,310 (GRCm39)	missense	probably benign
R8732:Prdm2	UTSW	4	142,862,580 (GRCm39)	missense	probably benign	0.00
R8796:Prdm2	UTSW	4	142,860,017 (GRCm39)	missense	probably benign	0.33
R8874:Prdm2	UTSW	4	142,859,785 (GRCm39)	missense	possibly damaging	0.70
R8887:Prdm2	UTSW	4	142,860,771 (GRCm39)	missense	probably damaging	1.00
R9119:Prdm2	UTSW	4	142,858,449 (GRCm39)	nonsense	probably null
R9139:Prdm2	UTSW	4	142,858,752 (GRCm39)	missense	probably benign	0.03
R9165:Prdm2	UTSW	4	142,858,674 (GRCm39)	missense	possibly damaging	0.73
R9342:Prdm2	UTSW	4	142,861,478 (GRCm39)	missense	probably damaging	1.00
R9518:Prdm2	UTSW	4	142,860,579 (GRCm39)	missense	possibly damaging	0.94
R9546:Prdm2	UTSW	4	142,861,561 (GRCm39)	missense	probably damaging	1.00
R9547:Prdm2	UTSW	4	142,861,561 (GRCm39)	missense	probably damaging	1.00
R9680:Prdm2	UTSW	4	142,859,079 (GRCm39)	missense	possibly damaging	0.73
R9730:Prdm2	UTSW	4	142,858,659 (GRCm39)	missense	possibly damaging	0.73
X0017:Prdm2	UTSW	4	142,861,277 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAAGAGGAAGCTGGTTTC -3'
(R):5'- CCAGGTTCAGTAGAGCAATGC -3'

Sequencing Primer
(F):5'- ACCCTGGATTCTTATGTAGAAAGTGC -3'
(R):5'- TTCAGTAGAGCAATGCAAAGC -3'

Posted On

2021-01-18