Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Prpf3'

354760

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

MMRRC Submission

041940-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95830124-95855885 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95836489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 451 (Q451*)

Ref Sequence

ENSEMBL: ENSMUSP00000124950 (fasta)

Gene Model

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

AlphaFold

Q922U1

Predicted Effect

probably null
Transcript: ENSMUST00000015892
AA Change: Q451*

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: Q451*

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: ENSMUST00000159901

SMART Domains

Protein: ENSMUSP00000124444
Gene: ENSMUSG00000015748

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160155

Predicted Effect

probably null
Transcript: ENSMUST00000161476
AA Change: Q451*

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: Q451*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,324,070	V336L	probably benign	Het
Acbd4	T	C	11: 103,105,368	L165P	possibly damaging	Het
Adam10	T	C	9: 70,765,954	S456P	possibly damaging	Het
Adgre4	T	C	17: 55,802,096	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,665,518	Y528*	probably null	Het
Aldh3b3	G	A	19: 3,964,516	V84M	probably damaging	Het
Cdca8	C	T	4: 124,931,103	G78E	probably damaging	Het
Cry2	T	C	2: 92,424,554	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,638,588	Y266C	probably benign	Het
Dkk4	T	C	8: 22,625,320	F62S	probably benign	Het
Dnah12	G	A	14: 26,706,839	V207I	probably benign	Het
Dthd1	T	C	5: 62,842,912	C526R	probably damaging	Het
Dubr	A	T	16: 50,732,503		noncoding transcript	Het
F5	T	C	1: 164,151,973		probably benign	Het
Flcn	A	C	11: 59,801,044	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,193,736		probably null	Het
Frem2	A	T	3: 53,547,635	D2173E	probably benign	Het
Fstl4	C	T	11: 53,068,650	Q173*	probably null	Het
Gfra3	G	A	18: 34,690,587	P381S	unknown	Het
Gm28308	C	A	6: 52,213,311		probably benign	Het
Gm8394	T	A	10: 85,314,201		noncoding transcript	Het
Gm8730	T	A	8: 102,865,747		noncoding transcript	Het
Gzmd	T	C	14: 56,131,226		probably null	Het
Hexb	A	G	13: 97,181,092	Y366H	probably damaging	Het
Hydin	A	T	8: 110,595,414	H4566L	probably benign	Het
Ifi213	G	A	1: 173,590,420	T142I	possibly damaging	Het
Kif13b	T	A	14: 64,773,064	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,949,460	C329F	unknown	Het
Larp1	G	T	11: 58,041,613	G207W	probably damaging	Het
Lfng	A	G	5: 140,614,439	D368G	probably damaging	Het
Mbd5	G	A	2: 49,258,279	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,197,263	Y301*	probably null	Het
Myh7b	T	C	2: 155,630,514	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,438,890	V687A	probably damaging	Het
Naip2	A	T	13: 100,148,812	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,714,558	F130L	probably damaging	Het
Nos1	A	G	5: 117,879,385	N271S	probably benign	Het
Nrap	A	G	19: 56,386,026	S23P	probably damaging	Het
Olfr106-ps	A	T	17: 37,394,771	N77I	probably damaging	Het
Olfr1509	T	C	14: 52,451,214	I267T	probably benign	Het
Olfr169	A	T	16: 19,566,513	Y123*	probably null	Het
Olfr800	T	C	10: 129,660,316	V170A	probably benign	Het
Pkdcc	C	G	17: 83,215,861	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,373,181	L265F	probably benign	Het
Prkaa1	A	G	15: 5,178,696	T473A	probably benign	Het
Ptprh	T	A	7: 4,597,997	D127V	possibly damaging	Het
Rab36	T	C	10: 75,041,933		probably null	Het
Rasa1	A	T	13: 85,238,163	Y427*	probably null	Het
Rgs11	T	C	17: 26,204,547		probably null	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Shank2	G	A	7: 144,420,605	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,836,013	M43R	probably benign	Het
Slc40a1	T	A	1: 45,912,313	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,638,539	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,236,291	T307A	probably benign	Het
Stt3a	T	C	9: 36,732,929	T705A	possibly damaging	Het
Tec	G	A	5: 72,823,637		probably benign	Het
Trp63	A	T	16: 25,865,262	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,262,361	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,104,653	H645R	possibly damaging	Het
Wdfy4	A	G	14: 33,109,548	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,327,324	T33A	probably benign	Het
Zfp318	T	A	17: 46,399,634	V761D	probably damaging	Het
Zfp358	T	C	8: 3,496,146		probably null	Het
Zfp661	G	A	2: 127,577,548	P224L	probably damaging	Het
Zfp937	T	C	2: 150,236,786	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,242,066	H364R	probably damaging	Het

Other mutations in Prpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Prpf3	APN	3	95834107	missense	probably damaging	0.99
IGL02825:Prpf3	APN	3	95853480	missense	probably damaging	1.00
R0940:Prpf3	UTSW	3	95844223	missense	probably damaging	1.00
R1542:Prpf3	UTSW	3	95836470	missense	probably benign	0.08
R1545:Prpf3	UTSW	3	95847803	missense	probably damaging	0.99
R2063:Prpf3	UTSW	3	95844239	missense	probably benign
R2084:Prpf3	UTSW	3	95848989	missense	probably benign	0.44
R2160:Prpf3	UTSW	3	95845230	missense	probably benign	0.19
R3110:Prpf3	UTSW	3	95849800	intron	probably benign
R3112:Prpf3	UTSW	3	95849800	intron	probably benign
R4636:Prpf3	UTSW	3	95834170	missense	probably damaging	0.99
R4671:Prpf3	UTSW	3	95851664	missense	possibly damaging	0.76
R4702:Prpf3	UTSW	3	95834092	missense	probably damaging	0.97
R5080:Prpf3	UTSW	3	95833797	missense	probably benign	0.45
R5177:Prpf3	UTSW	3	95849724	intron	probably benign
R5290:Prpf3	UTSW	3	95853545	missense	probably benign	0.39
R5397:Prpf3	UTSW	3	95853579	missense	probably benign	0.09
R6329:Prpf3	UTSW	3	95832578	missense	probably damaging	1.00
R7133:Prpf3	UTSW	3	95833740	splice site	probably null
R8433:Prpf3	UTSW	3	95851651	missense	probably damaging	1.00
R8725:Prpf3	UTSW	3	95840709	missense	possibly damaging	0.48
X0063:Prpf3	UTSW	3	95840715	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCTGCCAGAAGAAAACATCACAG -3'
(R):5'- CAAAGCACGACTGTCTCTCG -3'

Sequencing Primer
(F):5'- GACTGACTCACTCACTCT -3'
(R):5'- GCACGACTGTCTCTCGACCTC -3'

Posted On

2015-10-21