Mutagenetix > Incidental Mutation

Incidental Mutation 'R5397:Prpf3'

429734

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

3632413F13Rik

MMRRC Submission

042968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95760891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 4 (S4T)

Ref Sequence

ENSEMBL: ENSMUSP00000124302 (fasta)

Gene Model

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

AlphaFold

Q922U1

Predicted Effect

probably benign
Transcript: ENSMUST00000015892
AA Change: S4T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: S4T

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
AA Change: S4T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124302
Gene: ENSMUSG00000015748
AA Change: S4T

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

probably benign
Transcript: ENSMUST00000161476
AA Change: S4T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: S4T

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: ENSMUST00000180383

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803 (GRCm38)	T518A	probably benign	Het
Acvr1b	T	A	15: 101,096,845 (GRCm39)	V254D	probably damaging	Het
Adar	T	C	3: 89,642,626 (GRCm39)	I169T	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arap1	A	T	7: 101,034,119 (GRCm39)	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,002,319 (GRCm39)	M1037K	probably damaging	Het
Bsg	T	A	10: 79,544,629 (GRCm39)	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,627 (GRCm39)	T276A	probably damaging	Het
Capn2	A	G	1: 182,298,271 (GRCm39)	C665R	probably damaging	Het
Cast	A	G	13: 74,869,056 (GRCm39)	S248P	possibly damaging	Het
Cd68	C	T	11: 69,556,484 (GRCm39)	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,276,279 (GRCm39)	W131R	probably damaging	Het
Dhx58	A	G	11: 100,594,746 (GRCm39)	V50A	probably damaging	Het
Fam124a	A	G	14: 62,843,838 (GRCm39)	S449G	probably benign	Het
Flnc	G	A	6: 29,441,160 (GRCm39)	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr149	A	G	3: 62,438,226 (GRCm39)	S644P	probably damaging	Het
Gucy1b1	G	A	3: 81,951,458 (GRCm39)	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,476,080 (GRCm39)	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Lig4	G	T	8: 10,022,644 (GRCm39)	R379S	probably benign	Het
Map7	G	A	10: 20,149,067 (GRCm39)	R514Q	unknown	Het
Mertk	T	A	2: 128,613,384 (GRCm39)	F467I	possibly damaging	Het
Mettl4	A	T	17: 95,034,705 (GRCm39)	Y463*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nme8	T	C	13: 19,878,549 (GRCm39)	D70G	probably damaging	Het
Npat	A	G	9: 53,481,774 (GRCm39)	N1161D	probably damaging	Het
Or4k77	T	A	2: 111,199,285 (GRCm39)	C103S	probably benign	Het
Or51ac3	T	A	7: 103,213,713 (GRCm39)	I258F	probably damaging	Het
Or6c76b	T	C	10: 129,692,579 (GRCm39)	F64S	probably damaging	Het
Paxip1	A	T	5: 27,977,002 (GRCm39)		probably benign	Het
Peg10	C	CTCG	6: 4,756,453 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,679,614 (GRCm39)	T923A	probably benign	Het
Pms1	T	A	1: 53,231,279 (GRCm39)	K857*	probably null	Het
Ppp1r9b	A	G	11: 94,892,936 (GRCm39)	E260G	probably damaging	Het
Rdh14	T	A	12: 10,444,869 (GRCm39)	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
S100a1	A	T	3: 90,419,442 (GRCm39)	M1K	probably null	Het
Slc2a5	G	A	4: 150,224,280 (GRCm39)		probably null	Het
Slc5a5	T	C	8: 71,343,823 (GRCm39)	T160A	probably damaging	Het
Srcap	T	G	7: 127,152,468 (GRCm39)		probably null	Het
Tgm6	T	A	2: 129,983,828 (GRCm39)	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,552,600 (GRCm39)	A201V	probably benign	Het
Trgv5	A	C	13: 19,376,728 (GRCm39)	E42D	possibly damaging	Het
Ttc13	T	C	8: 125,402,002 (GRCm39)	T662A	possibly damaging	Het
Ttn	T	C	2: 76,555,599 (GRCm39)	T30469A	probably damaging	Het
Ube3a	T	A	7: 58,936,660 (GRCm39)	S645R	probably benign	Het
Vgll2	A	G	10: 51,901,262 (GRCm39)	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,956,060 (GRCm39)	C76*	probably null	Het
Vmn2r101	A	G	17: 19,809,104 (GRCm39)	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,223,344 (GRCm39)		probably benign	Het
Zcchc7	C	A	4: 44,926,048 (GRCm39)	A28E	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
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'- TGCTCCTAACAGGGACAACC -3'
(R):5'- CTTCATATGAAGTGGAGAGATGTGC -3'

Sequencing Primer
(F):5'- CAACCTGGGGAAGTTCAAATC -3'
(R):5'- TGCTTGGGGTTGAAAATAGGAATG -3'

Posted On

2016-09-06