Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Prpf3'

477894

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

3632413F13Rik

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 95757112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124950 (fasta)

Gene Model

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

AlphaFold

Q922U1

Predicted Effect

probably benign
Transcript: ENSMUST00000015892

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748

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

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	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
R2084:Prpf3	UTSW	3	95,756,301 (GRCm39)	missense	probably benign	0.44
R2160:Prpf3	UTSW	3	95,752,542 (GRCm39)	missense	probably benign	0.19
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

Posted On

2017-05-15