Mutagenetix > Incidental Mutation

Incidental Mutation 'R6329:Prpf3'

509376

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

3632413F13Rik

MMRRC Submission

044483-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95739890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 630 (C630S)

Ref Sequence

ENSEMBL: ENSMUSP00000124950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015892] [ENSMUST00000159901] [ENSMUST00000161476]

AlphaFold

Q922U1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015892
AA Change: C630S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: C630S

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 damaging
Transcript: ENSMUST00000159901
AA Change: C61S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124444
Gene: ENSMUSG00000015748
AA Change: C61S

Domain	Start	End	E-Value	Type
Pfam:DUF1115	1	105	3.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160155

Predicted Effect

probably damaging
Transcript: ENSMUST00000161476
AA Change: C630S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: C630S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163059

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.] 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
4930579F01Rik	T	C	3: 137,879,457 (GRCm39)	H72R	probably damaging	Het
Abca13	A	T	11: 9,227,937 (GRCm39)	N660I	probably damaging	Het
Actr8	C	T	14: 29,715,041 (GRCm39)	R619*	probably null	Het
Adam18	C	A	8: 25,104,843 (GRCm39)	G657V	probably damaging	Het
Adcyap1	A	G	17: 93,510,227 (GRCm39)	E85G	probably benign	Het
Akr1c14	A	G	13: 4,137,302 (GRCm39)	Y305C	probably damaging	Het
Ankdd1b	T	A	13: 96,591,388 (GRCm39)	H37L	possibly damaging	Het
Ap4e1	T	C	2: 126,903,636 (GRCm39)	L846P	probably benign	Het
Aqp9	A	T	9: 71,039,966 (GRCm39)	Y105*	probably null	Het
Arid1b	C	T	17: 5,387,538 (GRCm39)	Q1664*	probably null	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Bnip1	C	A	17: 27,005,684 (GRCm39)	S64*	probably null	Het
Calcr	T	A	6: 3,687,621 (GRCm39)	Q422L	probably damaging	Het
Ccdc162	T	A	10: 41,539,147 (GRCm39)	D407V	possibly damaging	Het
Ccdc66	G	T	14: 27,208,441 (GRCm39)	S760R	probably benign	Het
Cd22	T	A	7: 30,577,193 (GRCm39)	E38V	probably damaging	Het
Cggbp1	T	C	16: 64,676,383 (GRCm39)	Y150H	probably damaging	Het
Chd3	T	C	11: 69,252,510 (GRCm39)	K263R	possibly damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a2	T	C	10: 76,435,662 (GRCm39)	T858A	probably benign	Het
Dnah7a	T	A	1: 53,580,273 (GRCm39)	D1554V	probably damaging	Het
Dnajc25	A	T	4: 59,013,678 (GRCm39)	Q132L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Ehbp1l1	A	C	19: 5,768,795 (GRCm39)	I836S	possibly damaging	Het
Elf1	A	G	14: 79,810,779 (GRCm39)	Q288R	possibly damaging	Het
Fbn1	C	A	2: 125,150,393 (GRCm39)	V2608L	possibly damaging	Het
Frmpd1	T	C	4: 45,268,551 (GRCm39)	I232T	possibly damaging	Het
Fuca1	T	A	4: 135,662,137 (GRCm39)	I355N	probably damaging	Het
Gcnt4	A	G	13: 97,083,781 (GRCm39)	D359G	probably damaging	Het
Gm5134	T	C	10: 75,790,494 (GRCm39)	M30T	possibly damaging	Het
Grk1	T	G	8: 13,455,704 (GRCm39)	L196R	probably damaging	Het
Igkv14-126	A	C	6: 67,873,548 (GRCm39)	D92A	probably damaging	Het
Kmt2c	A	G	5: 25,520,600 (GRCm39)	S1837P	probably benign	Het
Lhx4	T	A	1: 155,578,300 (GRCm39)	T281S	probably benign	Het
Lrrc55	G	T	2: 85,026,653 (GRCm39)	H124N	probably benign	Het
Marchf8	T	A	6: 116,383,277 (GRCm39)	I566N	possibly damaging	Het
Mycbp2	G	A	14: 103,393,288 (GRCm39)	A3091V	probably benign	Het
Nlrp4b	A	G	7: 10,458,847 (GRCm39)	N355S	probably benign	Het
Nmur2	A	G	11: 55,920,411 (GRCm39)	V278A	probably benign	Het
Nod1	T	C	6: 54,921,689 (GRCm39)	M210V	probably benign	Het
Nt5c1b	T	A	12: 10,422,138 (GRCm39)	C63*	probably null	Het
Or1e1f	A	G	11: 73,855,568 (GRCm39)	I45V	possibly damaging	Het
Or1j17	A	T	2: 36,578,694 (GRCm39)	K227*	probably null	Het
Or4g7	C	T	2: 111,309,573 (GRCm39)	A148V	possibly damaging	Het
Or5d37	G	A	2: 87,924,008 (GRCm39)	P91S	probably damaging	Het
Or7g21	A	C	9: 19,032,253 (GRCm39)	M1L	probably benign	Het
Or8b37	T	C	9: 37,959,121 (GRCm39)	V201A	probably benign	Het
Or8g24	C	T	9: 38,989,199 (GRCm39)	V281I	probably benign	Het
Osbp2	T	A	11: 3,665,153 (GRCm39)	S517C	probably damaging	Het
Pcdha1	C	T	18: 37,065,301 (GRCm39)	P655L	probably damaging	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Perp	G	A	10: 18,731,502 (GRCm39)	G154S	probably damaging	Het
Perp	G	T	10: 18,731,503 (GRCm39)	G154V	probably damaging	Het
Pira13	T	C	7: 3,825,850 (GRCm39)	T340A	probably damaging	Het
Prokr1	T	G	6: 87,558,774 (GRCm39)	T204P	possibly damaging	Het
Pter	C	A	2: 12,985,359 (GRCm39)	H230N	probably damaging	Het
Ptprs	A	T	17: 56,724,427 (GRCm39)	Y1167*	probably null	Het
Rad54l2	T	C	9: 106,595,121 (GRCm39)	I279V	possibly damaging	Het
Rora	T	A	9: 69,280,468 (GRCm39)	L347Q	probably damaging	Het
Runx1t1	T	G	4: 13,785,136 (GRCm39)	M1R	probably null	Het
Sdcbp	A	G	4: 6,381,064 (GRCm39)	S70G	probably benign	Het
Serpinb12	A	G	1: 106,881,493 (GRCm39)	Y210C	probably damaging	Het
Sipa1	T	C	19: 5,701,517 (GRCm39)	E1015G	probably damaging	Het
Slc15a2	A	C	16: 36,572,144 (GRCm39)	L740R	possibly damaging	Het
Specc1	A	G	11: 62,047,379 (GRCm39)	E916G	probably damaging	Het
Spta1	T	C	1: 174,041,743 (GRCm39)	I1371T	possibly damaging	Het
Tagln3	T	C	16: 45,533,365 (GRCm39)	M130V	probably benign	Het
Tchh	A	T	3: 93,353,752 (GRCm39)	E1064V	unknown	Het
Tdp1	A	T	12: 99,880,330 (GRCm39)	S464C	probably damaging	Het
Tdp1	G	C	12: 99,880,331 (GRCm39)	S464T	probably benign	Het
Tenm3	T	C	8: 48,729,884 (GRCm39)	Y1374C	probably damaging	Het
Tmprss3	A	T	17: 31,402,833 (GRCm39)	Y455*	probably null	Het
Ttc5	A	G	14: 51,003,385 (GRCm39)	V433A	possibly damaging	Het
Wnt5a	A	T	14: 28,240,449 (GRCm39)	R180*	probably null	Het
Zfp53	A	G	17: 21,728,372 (GRCm39)	D135G	probably benign	Het
Zfp619	T	A	7: 39,186,969 (GRCm39)	C1000S	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- ACTCTTCCGTCTAGTGCGTG -3'
(R):5'- TCAAGATCCTGCACACTGAGAG -3'

Sequencing Primer
(F):5'- CCGTCTAGTGCGTGCGTTAC -3'
(R):5'- GCTGAAGCTTGTAATCCCAGC -3'

Posted On

2018-04-02