Mutagenetix > Incidental Mutation

Incidental Mutation 'R8235:Prdm2'

637297

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

067667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 142859037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1418 (Q1418*)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably null
Transcript: ENSMUST00000105778
AA Change: Q1418*

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: Q1418*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

98% (44/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,212,077 (GRCm39)	Q279H	probably damaging	Het
Abhd13	G	A	8: 10,037,394 (GRCm39)		probably benign	Het
Atp8b3	T	C	10: 80,365,650 (GRCm39)	N368S	probably damaging	Het
Bptf	A	G	11: 106,967,458 (GRCm39)	M1089T	probably benign	Het
Cbll1	C	T	12: 31,541,570 (GRCm39)	D103N	probably benign	Het
Ccnd2	T	C	6: 127,107,305 (GRCm39)	D288G	probably benign	Het
Chek1	T	A	9: 36,630,870 (GRCm39)	R181S	probably benign	Het
Chrna7	T	C	7: 62,861,972 (GRCm39)	R27G	probably damaging	Het
Crybb1	A	G	5: 112,405,266 (GRCm39)	K6R	probably damaging	Het
Ehbp1	G	A	11: 22,189,153 (GRCm39)	T83M	probably damaging	Het
Entpd7	G	A	19: 43,705,984 (GRCm39)	E269K	probably damaging	Het
Eps8	A	G	6: 137,460,576 (GRCm39)	V729A	possibly damaging	Het
Farsa	A	G	8: 85,595,545 (GRCm39)	H480R	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Hpn	T	C	7: 30,802,208 (GRCm39)	T228A	possibly damaging	Het
Lyst	T	A	13: 13,935,323 (GRCm39)	H3597Q	possibly damaging	Het
Map3k4	A	T	17: 12,458,968 (GRCm39)		probably null	Het
Msto1	A	T	3: 88,820,228 (GRCm39)	L89Q	probably damaging	Het
Mycbp2	T	C	14: 103,436,110 (GRCm39)	E2185G	probably damaging	Het
Myh2	A	G	11: 67,083,824 (GRCm39)	E1534G	probably damaging	Het
Nfkbia	T	C	12: 55,537,608 (GRCm39)	Y195C	probably damaging	Het
Npr2	T	A	4: 43,641,603 (GRCm39)	M469K	probably benign	Het
Nwd1	TCATCC	TCATCCATCC	8: 73,438,314 (GRCm39)		probably null	Het
Or8i2	T	C	2: 86,852,226 (GRCm39)	I221V	probably benign	Het
Potefam3e	C	A	8: 19,799,476 (GRCm39)	T308N	probably benign	Het
Ptk2	T	C	15: 73,215,140 (GRCm39)	T13A	probably benign	Het
Ptprk	T	A	10: 28,465,037 (GRCm39)	N1292K	possibly damaging	Het
Ptprq	A	C	10: 107,418,402 (GRCm39)	V1658G	probably damaging	Het
Ptprq	A	T	10: 107,541,351 (GRCm39)	F392I	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rsf1	T	C	7: 97,325,461 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,106,031 (GRCm39)	V396I	probably benign	Het
Spta1	T	A	1: 174,029,952 (GRCm39)	L906Q	probably damaging	Het
Sytl1	T	C	4: 132,988,257 (GRCm39)	D33G	probably damaging	Het
Trmt10c	T	C	16: 55,854,939 (GRCm39)	N232S	probably benign	Het
Trpc4	G	A	3: 54,209,669 (GRCm39)	C678Y	probably benign	Het
Tulp3	T	C	6: 128,304,640 (GRCm39)	N205D	probably benign	Het
Ufl1	T	C	4: 25,278,656 (GRCm39)	I100V	probably benign	Het
Unc45b	A	G	11: 82,810,681 (GRCm39)	I314V	probably benign	Het
Vegfa	A	T	17: 46,342,236 (GRCm39)	L194Q	possibly damaging	Het
Vps13c	T	C	9: 67,834,678 (GRCm39)	F1669S	probably damaging	Het
Vps13c	T	A	9: 67,863,063 (GRCm39)	H3026Q	probably benign	Het
Zfp184	T	G	13: 22,144,053 (GRCm39)	I586M	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
R8404:Prdm2	UTSW	4	142,861,584 (GRCm39)	missense	probably damaging	0.98
R8498:Prdm2	UTSW	4	142,907,467 (GRCm39)	missense	probably damaging	1.00
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'- ACTTTTCTTTTGGAAGGAGAAAGGG -3'
(R):5'- CACATCTTGGCGTGTGCATC -3'

Sequencing Primer
(F):5'- GTCACAGTAAGGGCAGAT -3'
(R):5'- TAAGAAAAACCCAGTGCCGCTG -3'

Posted On

2020-07-13