Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Prdm2'

534802

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

045021-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 142859520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1257 (S1257A)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: S1257A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: S1257A

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: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ak9	A	G	10: 41,233,797 (GRCm39)		probably null	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Casp3	C	T	8: 47,089,301 (GRCm39)	A183V	probably benign	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Meis3	A	G	7: 15,917,789 (GRCm39)	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
Or5b118	A	T	19: 13,448,402 (GRCm39)	I23F	probably benign	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pgp	T	C	17: 24,690,375 (GRCm39)	L267P	probably damaging	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACACTTTGTGCAGCGGATG -3'
(R):5'- TGCAATTTACAGCAGCATCAG -3'

Sequencing Primer
(F):5'- ATGGCAGTAGTGAAAGTCTGTG -3'
(R):5'- AGCGTGATCTCCACCCAGATG -3'

Posted On

2018-09-12