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

3632413F13Rik

MMRRC Submission

041940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95743801 bp (GRCm39)

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: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,532,422 (GRCm39)	F130L	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or4e2	T	C	14: 52,688,671 (GRCm39)	I267T	probably benign	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,350,144 (GRCm39)	L265F	probably benign	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rasa1	A	T	13: 85,386,282 (GRCm39)	Y427*	probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,722,996 (GRCm39)	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	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
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'- GTTCTGCCAGAAGAAAACATCACAG -3'
(R):5'- CAAAGCACGACTGTCTCTCG -3'

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

Posted On

2015-10-21