Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Prdm2'

608996

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

045937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142861140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 717 (A717T)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: A717T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: A717T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Crhbp	T	C	13: 95,568,515 (GRCm39)	Q307R	probably damaging	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Gpatch2	A	G	1: 186,957,698 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,704,776 (GRCm39)	Y26*	probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Pstpip2	C	A	18: 77,882,422 (GRCm39)	T2K	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vps33a	T	C	5: 123,673,312 (GRCm39)	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACAAACTCCACGCTGGTG -3'
(R):5'- AGATTCTGATTCCACGGCACC -3'

Sequencing Primer
(F):5'- ACGCTGGTGAGTCACTACGAC -3'
(R):5'- GGCACCCTCGTGTTCCTTAAG -3'

Posted On

2019-12-20