Mutagenetix > Incidental Mutation

Incidental Mutation 'R2084:Prpf3'

230182

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

3632413F13Rik

MMRRC Submission

040089-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95756301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 117 (E117K)

Ref Sequence

ENSEMBL: ENSMUSP00000124950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015892] [ENSMUST00000160109] [ENSMUST00000161476]

AlphaFold

Q922U1

Predicted Effect

probably benign
Transcript: ENSMUST00000015892
AA Change: E117K

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: E117K

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	308	521	1.3e-82	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	544	673	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160109

SMART Domains

Protein: ENSMUSP00000124302
Gene: ENSMUSG00000015748

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161420

Predicted Effect

probably benign
Transcript: ENSMUST00000161476
AA Change: E117K

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: E117K

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	307	522	5.4e-74	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	543	674	3.2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161482

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	C	T	11: 5,612,378 (GRCm39)	Q1237*	probably null	Het
Aph1c	T	G	9: 66,726,579 (GRCm39)	R258S	probably damaging	Het
Arfgap3	T	A	15: 83,218,767 (GRCm39)	N102I	probably damaging	Het
Astn1	T	C	1: 158,299,978 (GRCm39)	V106A	probably damaging	Het
BC005537	G	T	13: 24,996,698 (GRCm39)		probably null	Het
Card10	G	A	15: 78,677,171 (GRCm39)	T412M	possibly damaging	Het
Cars1	T	C	7: 143,140,919 (GRCm39)	I126M	probably benign	Het
Cfap20dc	T	C	14: 8,558,171 (GRCm38)	D138G	probably damaging	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Cpped1	T	C	16: 11,646,365 (GRCm39)	D153G	probably damaging	Het
Cyp2j11	T	A	4: 96,227,438 (GRCm39)	I193F	probably damaging	Het
Dnm2	T	C	9: 21,411,667 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,865,763 (GRCm39)	D288G	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Fcgbpl1	G	A	7: 27,856,960 (GRCm39)	V2103M	probably damaging	Het
Fcrl5	T	C	3: 87,351,537 (GRCm39)	F262L	probably benign	Het
Gh	G	A	11: 106,191,958 (GRCm39)	P84L	probably damaging	Het
Gm10267	T	C	18: 44,290,397 (GRCm39)	R37G	probably benign	Het
Hmgxb3	C	T	18: 61,288,095 (GRCm39)		probably benign	Het
Ifit2	T	C	19: 34,550,750 (GRCm39)	W97R	probably damaging	Het
Ift81	T	G	5: 122,705,410 (GRCm39)	K491Q	probably benign	Het
Ints8	A	G	4: 11,230,377 (GRCm39)	V488A	probably benign	Het
Krba1	T	A	6: 48,391,502 (GRCm39)	L797Q	probably damaging	Het
Krr1	T	C	10: 111,812,690 (GRCm39)	V100A	probably damaging	Het
Nav1	C	T	1: 135,535,158 (GRCm39)		probably benign	Het
Nos1	C	A	5: 118,081,310 (GRCm39)	Q1205K	probably damaging	Het
Nup85	A	T	11: 115,459,517 (GRCm39)	D125V	possibly damaging	Het
Or5ak23	T	C	2: 85,244,959 (GRCm39)	E88G	probably benign	Het
Pclo	T	G	5: 14,732,162 (GRCm39)	S3555A	probably benign	Het
Pdzrn3	T	C	6: 101,131,256 (GRCm39)	I473V	probably benign	Het
Polr1a	A	G	6: 71,927,793 (GRCm39)	E848G	possibly damaging	Het
Pop1	T	C	15: 34,508,744 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,425,920 (GRCm39)	T8S	probably damaging	Het
Psmg3	C	T	5: 139,809,744 (GRCm39)	V101M	probably benign	Het
Rexo1	G	A	10: 80,397,100 (GRCm39)	S52L	probably benign	Het
Ryk	C	T	9: 102,752,971 (GRCm39)	T210M	probably damaging	Het
Sde2	A	G	1: 180,690,198 (GRCm39)	E306G	probably damaging	Het
Sec24c	A	G	14: 20,741,347 (GRCm39)	Q658R	probably benign	Het
Sgsm1	G	A	5: 113,433,266 (GRCm39)	T183I	probably damaging	Het
Skint7	T	A	4: 111,837,375 (GRCm39)	V51E	probably damaging	Het
Slc6a5	T	A	7: 49,598,002 (GRCm39)	M622K	probably benign	Het
Slco1a5	T	C	6: 142,180,437 (GRCm39)	H655R	probably benign	Het
Slco1c1	T	A	6: 141,505,578 (GRCm39)	Y452*	probably null	Het
Spn	T	C	7: 126,736,210 (GRCm39)	E99G	probably benign	Het
Ssc5d	A	G	7: 4,940,011 (GRCm39)	I789V	probably benign	Het
Taok2	G	A	7: 126,469,363 (GRCm39)	T1155I	probably benign	Het
Tet2	T	C	3: 133,193,528 (GRCm39)	Q302R	possibly damaging	Het
Trmt1l	A	G	1: 151,316,605 (GRCm39)	T189A	probably damaging	Het
Tubal3	T	C	13: 3,978,192 (GRCm39)	I36T	possibly damaging	Het
Vmn2r71	A	T	7: 85,267,945 (GRCm39)	Y133F	probably benign	Het
Vps11	G	T	9: 44,264,558 (GRCm39)	H673N	probably benign	Het
Zc3h12a	C	T	4: 125,013,802 (GRCm39)	S354N	probably benign	Het
Zfp2	A	G	11: 50,791,789 (GRCm39)	S85P	probably benign	Het

Other mutations in Prpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Prpf3	APN	3	95,741,419 (GRCm39)	missense	probably damaging	0.99
IGL02825:Prpf3	APN	3	95,760,792 (GRCm39)	missense	probably damaging	1.00
R0940:Prpf3	UTSW	3	95,751,535 (GRCm39)	missense	probably damaging	1.00
R1542:Prpf3	UTSW	3	95,743,782 (GRCm39)	missense	probably benign	0.08
R1545:Prpf3	UTSW	3	95,755,115 (GRCm39)	missense	probably damaging	0.99
R2063:Prpf3	UTSW	3	95,751,551 (GRCm39)	missense	probably benign
R2160:Prpf3	UTSW	3	95,752,542 (GRCm39)	missense	probably benign	0.19
R3110:Prpf3	UTSW	3	95,757,112 (GRCm39)	intron	probably benign
R3112:Prpf3	UTSW	3	95,757,112 (GRCm39)	intron	probably benign
R4636:Prpf3	UTSW	3	95,741,482 (GRCm39)	missense	probably damaging	0.99
R4671:Prpf3	UTSW	3	95,758,976 (GRCm39)	missense	possibly damaging	0.76
R4689:Prpf3	UTSW	3	95,743,801 (GRCm39)	nonsense	probably null
R4702:Prpf3	UTSW	3	95,741,404 (GRCm39)	missense	probably damaging	0.97
R5080:Prpf3	UTSW	3	95,741,109 (GRCm39)	missense	probably benign	0.45
R5177:Prpf3	UTSW	3	95,757,036 (GRCm39)	intron	probably benign
R5290:Prpf3	UTSW	3	95,760,857 (GRCm39)	missense	probably benign	0.39
R5397:Prpf3	UTSW	3	95,760,891 (GRCm39)	missense	probably benign	0.09
R6329:Prpf3	UTSW	3	95,739,890 (GRCm39)	missense	probably damaging	1.00
R7133:Prpf3	UTSW	3	95,741,052 (GRCm39)	splice site	probably null
R8433:Prpf3	UTSW	3	95,758,963 (GRCm39)	missense	probably damaging	1.00
R8725:Prpf3	UTSW	3	95,748,021 (GRCm39)	missense	possibly damaging	0.48
R9566:Prpf3	UTSW	3	95,760,800 (GRCm39)	missense	probably damaging	1.00
R9611:Prpf3	UTSW	3	95,758,931 (GRCm39)	nonsense	probably null
R9613:Prpf3	UTSW	3	95,758,931 (GRCm39)	nonsense	probably null
R9733:Prpf3	UTSW	3	95,741,512 (GRCm39)	missense	possibly damaging	0.77
X0063:Prpf3	UTSW	3	95,748,027 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGGGCTACTTCTGATCAAACC -3'
(R):5'- AAAGGTTGTCATATCCCCTGGG -3'

Sequencing Primer
(F):5'- GCTACTTCTGATCAAACCAAAGACTG -3'
(R):5'- GAAACCACAGGATGCTGGTAG -3'

Posted On

2014-09-18