Mutagenetix > Incidental Mutation

Incidental Mutation 'R6307:Prdm8'

509457

Institutional Source

Beutler Lab

Gene Symbol

Prdm8

Ensembl Gene

ENSMUSG00000035456

Gene Name

PR domain containing 8

Synonyms

MMRRC Submission

044412-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98315241-98335313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98333162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 243 (P243L)

Ref Sequence

ENSEMBL: ENSMUSP00000147333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112959] [ENSMUST00000210477]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000057889

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112959
AA Change: P243L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108583
Gene: ENSMUSG00000035456
AA Change: P243L

Domain	Start	End	E-Value	Type
SET	20	137	1.55e0	SMART
ZnF_C2H2	154	182	2.37e2	SMART
low complexity region	192	219	N/A	INTRINSIC
low complexity region	275	291	N/A	INTRINSIC
low complexity region	315	332	N/A	INTRINSIC
low complexity region	397	427	N/A	INTRINSIC
low complexity region	471	492	N/A	INTRINSIC
low complexity region	556	570	N/A	INTRINSIC
low complexity region	599	621	N/A	INTRINSIC
ZnF_C2H2	624	646	9.22e0	SMART
ZnF_C2H2	665	687	1.2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205851

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210477
AA Change: P243L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature termination of corticopsinal motor neuron axons, absent corpus callosum and hippocampal commissure, excessive scratching, skin lesions, and contraction of hindpaws resulting a handstand phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,843,221 (GRCm39)	L1232P	probably damaging	Het
Akap6	A	T	12: 53,188,351 (GRCm39)	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,647,206 (GRCm39)	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,510,090 (GRCm39)	V430F	probably benign	Het
Bod1	A	G	11: 31,616,932 (GRCm39)	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,590,914 (GRCm39)	V1453F	probably damaging	Het
Capn8	T	A	1: 182,435,264 (GRCm39)	M414K	probably damaging	Het
Cbl	A	T	9: 44,069,809 (GRCm39)		probably null	Het
Ccdc42	A	T	11: 68,479,106 (GRCm39)	Q98L	probably damaging	Het
Ccn3	T	C	15: 54,611,421 (GRCm39)		probably null	Het
Cd200	C	A	16: 45,217,545 (GRCm39)	V49L	probably benign	Het
Celsr1	A	G	15: 85,812,531 (GRCm39)	S2060P	probably benign	Het
Ces1g	A	T	8: 94,057,820 (GRCm39)	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,668,831 (GRCm39)	H161Q	probably damaging	Het
Ctns	G	A	11: 73,082,559 (GRCm39)	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,057,871 (GRCm39)	F536L	probably benign	Het
Dcc	C	T	18: 71,943,826 (GRCm39)	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,289,990 (GRCm39)	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,269,757 (GRCm39)	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,849,507 (GRCm39)	V17G	possibly damaging	Het
Farsa	T	C	8: 85,587,674 (GRCm39)		probably null	Het
Fat2	G	C	11: 55,172,106 (GRCm39)	T2869S	possibly damaging	Het
Fgg	A	T	3: 82,920,283 (GRCm39)	Q354L	probably damaging	Het
Folh1	T	C	7: 86,372,517 (GRCm39)	D679G	probably damaging	Het
Gbp4	T	A	5: 105,270,975 (GRCm39)	R83*	probably null	Het
Gm17482	T	A	6: 115,204,311 (GRCm39)		probably benign	Het
Hmgxb4	T	A	8: 75,749,927 (GRCm39)	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,552,619 (GRCm39)	Y926D	probably damaging	Het
Ikzf5	T	A	7: 130,993,377 (GRCm39)	N264Y	probably damaging	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Krt33b	A	T	11: 99,915,694 (GRCm39)	C351S	probably benign	Het
Lrp1	T	C	10: 127,427,944 (GRCm39)	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,053,021 (GRCm39)	R339W	probably damaging	Het
Mapk3	T	G	7: 126,363,454 (GRCm39)	M276R	probably benign	Het
Mgst1	T	C	6: 138,127,827 (GRCm39)	V137A	probably benign	Het
Muc16	T	C	9: 18,558,884 (GRCm39)	T2470A	unknown	Het
Muc4	C	T	16: 32,575,237 (GRCm39)	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,180,198 (GRCm39)	K713T	possibly damaging	Het
Myzap	T	C	9: 71,466,146 (GRCm39)	D170G	possibly damaging	Het
Naa50	T	C	16: 43,979,831 (GRCm39)	V113A	probably damaging	Het
Neu3	T	C	7: 99,462,929 (GRCm39)	T265A	probably benign	Het
Nin	T	C	12: 70,061,631 (GRCm39)	T2078A	possibly damaging	Het
Nomo1	G	A	7: 45,683,260 (GRCm39)		probably benign	Het
Nprl3	A	G	11: 32,189,828 (GRCm39)	L273P	probably damaging	Het
Oaf	T	A	9: 43,136,216 (GRCm39)	H120L	possibly damaging	Het
Or10s1	T	C	9: 39,985,824 (GRCm39)	S78P	probably damaging	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k21	T	C	2: 86,145,468 (GRCm39)	H54R	probably benign	Het
Pcdhga3	T	A	18: 37,809,674 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,837,718 (GRCm39)		probably null	Het
Prim2	T	C	1: 33,701,373 (GRCm39)	D138G	probably benign	Het
Prl2c5	A	G	13: 13,365,175 (GRCm39)	E107G	probably benign	Het
Prr14l	T	A	5: 32,984,869 (GRCm39)	H1542L	probably damaging	Het
Rab26	T	C	17: 24,749,072 (GRCm39)	E203G	probably damaging	Het
Rtkn2	A	T	10: 67,871,662 (GRCm39)	H350L	possibly damaging	Het
Scara3	T	C	14: 66,175,710 (GRCm39)	D19G	probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059 (GRCm39)	M93V	probably benign	Het
Sema6a	C	A	18: 47,382,231 (GRCm39)	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,584,006 (GRCm39)	K428R	probably benign	Het
Sptbn2	G	A	19: 4,774,674 (GRCm39)	G109D	probably damaging	Het
Tmppe	T	C	9: 114,233,812 (GRCm39)	L37P	probably benign	Het
Tuba1a	T	C	15: 98,849,410 (GRCm39)	T56A	probably benign	Het
Tut4	T	A	4: 108,412,817 (GRCm39)	I1506N	probably damaging	Het
Vmn2r111	A	G	17: 22,792,070 (GRCm39)	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,506,828 (GRCm39)	I828T	probably damaging	Het
Vmn2r79	T	A	7: 86,686,976 (GRCm39)	W786R	probably damaging	Het
Zp1	G	A	19: 10,894,084 (GRCm39)	T405M	probably null	Het

Other mutations in Prdm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Prdm8	APN	5	98,331,202 (GRCm39)	missense	probably damaging	1.00
IGL02208:Prdm8	APN	5	98,331,324 (GRCm39)	missense	possibly damaging	0.93
IGL02676:Prdm8	APN	5	98,334,418 (GRCm39)	missense	probably damaging	1.00
R0060:Prdm8	UTSW	5	98,333,119 (GRCm39)	missense	probably benign	0.19
R0063:Prdm8	UTSW	5	98,332,453 (GRCm39)	missense	probably damaging	0.98
R0063:Prdm8	UTSW	5	98,332,453 (GRCm39)	missense	probably damaging	0.98
R0630:Prdm8	UTSW	5	98,332,380 (GRCm39)	missense	probably damaging	1.00
R1099:Prdm8	UTSW	5	98,331,361 (GRCm39)	missense	probably damaging	0.99
R4373:Prdm8	UTSW	5	98,334,367 (GRCm39)	missense	probably damaging	1.00
R4643:Prdm8	UTSW	5	98,332,446 (GRCm39)	missense	possibly damaging	0.61
R4936:Prdm8	UTSW	5	98,332,882 (GRCm39)	critical splice acceptor site	probably null
R4936:Prdm8	UTSW	5	98,332,881 (GRCm39)	critical splice acceptor site	probably null
R5033:Prdm8	UTSW	5	98,333,071 (GRCm39)	nonsense	probably null
R5495:Prdm8	UTSW	5	98,333,165 (GRCm39)	missense	possibly damaging	0.62
R6562:Prdm8	UTSW	5	98,331,202 (GRCm39)	missense	possibly damaging	0.82
R6970:Prdm8	UTSW	5	98,332,471 (GRCm39)	missense	probably damaging	0.99
R7343:Prdm8	UTSW	5	98,332,375 (GRCm39)	missense	probably damaging	1.00
R8417:Prdm8	UTSW	5	98,332,390 (GRCm39)	missense	probably damaging	0.98
R8421:Prdm8	UTSW	5	98,333,822 (GRCm39)	missense	probably damaging	1.00
R9159:Prdm8	UTSW	5	98,334,175 (GRCm39)	missense	probably damaging	0.97
R9644:Prdm8	UTSW	5	98,333,638 (GRCm39)	missense	probably benign
Z1177:Prdm8	UTSW	5	98,334,410 (GRCm39)	missense	probably damaging	0.99
Z1177:Prdm8	UTSW	5	98,332,491 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGATGCGAATCCCCAAG -3'
(R):5'- CTTCTTCACCTCCACGAAGG -3'

Sequencing Primer
(F):5'- TGATGCGAATCCCCAAGACGAG -3'
(R):5'- TTCTCCTCCAGGCCGAAGTAG -3'

Posted On

2018-04-02