Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02141:Prpf8'

281551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf8

Ensembl Gene

ENSMUSG00000020850

Gene Name

pre-mRNA processing factor 8

Synonyms

Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

75486816-75509449 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75490672 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 300 (N300D)

Ref Sequence

ENSEMBL: ENSMUSP00000099568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018449
AA Change: N300D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: N300D

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	209	1.6e-84	PFAM
low complexity region	369	388	N/A	INTRINSIC
Pfam:PROCN	393	801	3.6e-226	PFAM
low complexity region	802	814	N/A	INTRINSIC
Pfam:RRM_4	986	1079	7.1e-49	PFAM
Pfam:U5_2-snRNA_bdg	1208	1343	1.9e-73	PFAM
Pfam:U6-snRNA_bdg	1442	1601	3.7e-97	PFAM
Pfam:PRP8_domainIV	1760	1990	1.5e-132	PFAM
JAB_MPN	2099	2233	9.02e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102510
AA Change: N300D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: N300D

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	209	1.6e-90	PFAM
low complexity region	369	388	N/A	INTRINSIC
Pfam:PROCN	395	801	2.9e-239	PFAM
low complexity region	802	814	N/A	INTRINSIC
Pfam:RRM_4	986	1077	1.5e-51	PFAM
Pfam:U5_2-snRNA_bdg	1210	1343	1.1e-77	PFAM
Pfam:U6-snRNA_bdg	1442	1600	4.2e-97	PFAM
Pfam:PRP8_domainIV	1760	1989	9.8e-134	PFAM
JAB_MPN	2099	2233	9.02e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131283
AA Change: N245D

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: N245D

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	92	1.9e-13	PFAM
Pfam:PRO8NT	90	154	2.5e-30	PFAM
low complexity region	314	333	N/A	INTRINSIC
Pfam:PROCN	338	746	1.7e-226	PFAM
low complexity region	747	759	N/A	INTRINSIC
Pfam:RRM_4	931	1024	5.3e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133995

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Prpf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Prpf8	APN	11	75494295	missense	possibly damaging	0.94
IGL01376:Prpf8	APN	11	75494295	missense	possibly damaging	0.94
IGL01393:Prpf8	APN	11	75494295	missense	possibly damaging	0.94
IGL01395:Prpf8	APN	11	75494295	missense	possibly damaging	0.94
IGL01554:Prpf8	APN	11	75495646	missense	probably damaging	1.00
IGL01560:Prpf8	APN	11	75490406	missense	possibly damaging	0.55
IGL01886:Prpf8	APN	11	75495744	missense	probably benign	0.32
IGL01946:Prpf8	APN	11	75499992	missense	probably damaging	1.00
IGL02022:Prpf8	APN	11	75501834	nonsense	probably null
IGL02077:Prpf8	APN	11	75495809	missense	probably damaging	0.96
IGL02455:Prpf8	APN	11	75509258	missense	probably benign	0.32
cutter	UTSW	11	75495426	splice site	probably null
PIT4514001:Prpf8	UTSW	11	75496355	missense	possibly damaging	0.53
R0254:Prpf8	UTSW	11	75506362	missense	possibly damaging	0.93
R0270:Prpf8	UTSW	11	75505249	missense	probably damaging	0.99
R0504:Prpf8	UTSW	11	75501942	splice site	probably benign
R0573:Prpf8	UTSW	11	75490654	missense	probably damaging	1.00
R0613:Prpf8	UTSW	11	75503444	missense	probably damaging	1.00
R0893:Prpf8	UTSW	11	75493949	missense	probably damaging	1.00
R0967:Prpf8	UTSW	11	75494430	missense	probably damaging	1.00
R0975:Prpf8	UTSW	11	75508674	unclassified	probably benign
R1123:Prpf8	UTSW	11	75495285	missense	probably damaging	1.00
R1183:Prpf8	UTSW	11	75490330	missense	possibly damaging	0.95
R1857:Prpf8	UTSW	11	75495423	critical splice donor site	probably null
R1901:Prpf8	UTSW	11	75504744	missense	probably damaging	0.99
R1950:Prpf8	UTSW	11	75496511	missense	possibly damaging	0.72
R2116:Prpf8	UTSW	11	75487721	missense	possibly damaging	0.51
R2147:Prpf8	UTSW	11	75490531	missense	probably benign
R2185:Prpf8	UTSW	11	75487113	nonsense	probably null
R2271:Prpf8	UTSW	11	75495363	missense	probably damaging	1.00
R2272:Prpf8	UTSW	11	75495363	missense	probably damaging	1.00
R2898:Prpf8	UTSW	11	75496034	missense	probably benign	0.00
R3744:Prpf8	UTSW	11	75506721	unclassified	probably null
R3893:Prpf8	UTSW	11	75500257	missense	possibly damaging	0.73
R4400:Prpf8	UTSW	11	75490702	missense	possibly damaging	0.63
R4510:Prpf8	UTSW	11	75491826	missense	probably damaging	0.96
R4511:Prpf8	UTSW	11	75491826	missense	probably damaging	0.96
R4784:Prpf8	UTSW	11	75492505	missense	probably damaging	1.00
R5089:Prpf8	UTSW	11	75509228	unclassified	probably null
R5186:Prpf8	UTSW	11	75489783	missense	possibly damaging	0.93
R5215:Prpf8	UTSW	11	75500204	missense	probably benign	0.02
R5288:Prpf8	UTSW	11	75495799	missense	probably damaging	1.00
R5362:Prpf8	UTSW	11	75506410	missense	possibly damaging	0.53
R5384:Prpf8	UTSW	11	75495799	missense	probably damaging	1.00
R5386:Prpf8	UTSW	11	75495799	missense	probably damaging	1.00
R5423:Prpf8	UTSW	11	75508958	missense	probably damaging	1.00
R5472:Prpf8	UTSW	11	75503643	missense	possibly damaging	0.89
R5539:Prpf8	UTSW	11	75503638	missense	probably benign	0.20
R5620:Prpf8	UTSW	11	75505101	missense	possibly damaging	0.95
R5669:Prpf8	UTSW	11	75504738	missense	probably damaging	1.00
R5887:Prpf8	UTSW	11	75500908	missense	possibly damaging	0.87
R5948:Prpf8	UTSW	11	75509189	missense	possibly damaging	0.95
R6073:Prpf8	UTSW	11	75494022	critical splice donor site	probably null
R6250:Prpf8	UTSW	11	75493508	missense	possibly damaging	0.95
R6358:Prpf8	UTSW	11	75491495	missense	probably benign	0.33
R6629:Prpf8	UTSW	11	75495426	splice site	probably null
R6804:Prpf8	UTSW	11	75499809	missense	possibly damaging	0.71
R6922:Prpf8	UTSW	11	75490736	missense	probably damaging	1.00
R7035:Prpf8	UTSW	11	75504828	missense	possibly damaging	0.72
R7038:Prpf8	UTSW	11	75496158	missense	probably benign	0.02
R7089:Prpf8	UTSW	11	75508548	missense	probably damaging	0.99
R7101:Prpf8	UTSW	11	75490400	missense	possibly damaging	0.85
R7114:Prpf8	UTSW	11	75503355	nonsense	probably null
R7182:Prpf8	UTSW	11	75490727	missense	possibly damaging	0.96
R7290:Prpf8	UTSW	11	75493957	missense	possibly damaging	0.85
R7323:Prpf8	UTSW	11	75491784	missense	probably benign	0.32
R7485:Prpf8	UTSW	11	75508912	nonsense	probably null
R7522:Prpf8	UTSW	11	75509276	missense	possibly damaging	0.82
R7546:Prpf8	UTSW	11	75508374	missense	probably damaging	1.00
R7596:Prpf8	UTSW	11	75491504	missense	probably benign	0.03
R7731:Prpf8	UTSW	11	75508906	missense	probably damaging	0.97
R7821:Prpf8	UTSW	11	75494474	missense	probably benign	0.01
R8039:Prpf8	UTSW	11	75502542	missense	possibly damaging	0.95
R8067:Prpf8	UTSW	11	75500150	missense	probably damaging	0.98
X0028:Prpf8	UTSW	11	75506764	missense	probably damaging	0.99
Z1177:Prpf8	UTSW	11	75503334	missense	probably benign	0.35

Posted On

2015-04-16