Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03399:Prdm2'

421353

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, Riz, E330024L24Rik, 4833427P12Rik, Riz1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03399

Quality Score

Status

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142861658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 544 (D544G)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: D544G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: D544G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	C	T	2: 150,479,798 (GRCm39)	G303D	probably damaging	Het
Adam6b	A	T	12: 113,454,728 (GRCm39)	Y515F	probably damaging	Het
Birc2	A	T	9: 7,821,088 (GRCm39)	L412Q	probably damaging	Het
Birc6	T	C	17: 74,901,368 (GRCm39)	I1144T	probably benign	Het
Dip2b	A	T	15: 100,073,208 (GRCm39)	N770I	possibly damaging	Het
Dmxl2	T	C	9: 54,353,956 (GRCm39)	N671D	probably damaging	Het
Dpyd	A	G	3: 119,108,426 (GRCm39)	D823G	probably damaging	Het
Eif5	A	G	12: 111,511,024 (GRCm39)	D367G	probably damaging	Het
Exog	T	G	9: 119,276,017 (GRCm39)	S56A	possibly damaging	Het
Hap1	C	A	11: 100,245,093 (GRCm39)	M39I	possibly damaging	Het
Hsd17b6	A	T	10: 127,829,625 (GRCm39)	H192Q	probably benign	Het
Insrr	T	A	3: 87,716,638 (GRCm39)	L622Q	probably null	Het
Kars1	G	T	8: 112,734,926 (GRCm39)	A20E	probably benign	Het
Kyat3	A	G	3: 142,431,771 (GRCm39)	D197G	probably damaging	Het
Mapk9	T	A	11: 49,774,126 (GRCm39)		probably benign	Het
Naip1	A	T	13: 100,545,426 (GRCm39)	D1367E	probably damaging	Het
Oaz1	G	A	10: 80,664,176 (GRCm39)	S84N	probably benign	Het
Ofcc1	T	C	13: 40,296,314 (GRCm39)	R507G	possibly damaging	Het
Or1j16	T	G	2: 36,530,894 (GRCm39)	V281G	possibly damaging	Het
Or5p6	A	G	7: 107,630,789 (GRCm39)	F254L	probably benign	Het
Or8g24	A	T	9: 38,989,533 (GRCm39)	C169*	probably null	Het
Pclo	T	A	5: 14,816,745 (GRCm39)	D4540E	unknown	Het
Ppp6r1	A	G	7: 4,646,251 (GRCm39)	V150A	probably damaging	Het
Rab27b	A	G	18: 70,120,067 (GRCm39)	I128T	possibly damaging	Het
Scart2	G	A	7: 139,827,869 (GRCm39)	E26K	probably benign	Het
Slc25a1	G	T	16: 17,743,684 (GRCm39)	T195K	probably damaging	Het
Tex10	T	C	4: 48,459,915 (GRCm39)	N479D	probably benign	Het
Thsd7b	G	T	1: 129,556,622 (GRCm39)	W326L	probably damaging	Het
Tril	T	C	6: 53,797,042 (GRCm39)	D60G	probably benign	Het
Ttn	C	T	2: 76,615,625 (GRCm39)	R14984H	probably damaging	Het
Uba2	G	A	7: 33,843,939 (GRCm39)	T12I	probably damaging	Het
Vmn2r107	T	C	17: 20,578,220 (GRCm39)		probably benign	Het
Vti1a	A	G	19: 55,487,703 (GRCm39)	K183R	probably benign	Het
Zkscan16	T	C	4: 58,956,915 (GRCm39)	V399A	probably benign	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
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
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

Posted On

2016-08-02