Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Prpf31'

15096

Institutional Source

Beutler Lab

Gene Symbol

Prpf31

Ensembl Gene

ENSMUSG00000008373

Gene Name

pre-mRNA processing factor 31

Synonyms

PRP31, 1500019O16Rik, 2810404O06Rik, RP11

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3629985-3642486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3639668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 413 (N413K)

Ref Sequence

ENSEMBL: ENSMUSP00000008517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000125782] [ENSMUST00000179769]

AlphaFold

Q8CCF0

Predicted Effect

probably benign
Transcript: ENSMUST00000008517
AA Change: N413K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: N413K

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
low complexity region	287	298	N/A	INTRINSIC
Pfam:Prp31_C	337	465	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108636
AA Change: N407K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: N407K

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148641

Predicted Effect

probably benign
Transcript: ENSMUST00000179769
AA Change: N407K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: N407K

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206440

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 78.7%
3x: 68.7%
10x: 42.4%
20x: 22.6%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Asph	A	C	4: 9,601,361	S129A	probably damaging	Het
Atrn	T	C	2: 130,957,920	Y406H	probably damaging	Het
B4galt3	C	T	1: 171,274,261		probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Ccdc187	T	C	2: 26,281,353	D371G	probably benign	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dock5	C	A	14: 67,846,081	E126D	probably benign	Het
Exph5	A	T	9: 53,376,479	D1620V	probably benign	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Fli1	A	G	9: 32,476,584	Y37H	probably damaging	Het
Gm17521	G	A	X: 123,029,542	S43L	probably benign	Het
Gnb3	A	G	6: 124,837,417	V135A	probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Ighv1-58	G	A	12: 115,312,287	T77I	probably benign	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Ntf3	T	A	6: 126,101,805	N246I	probably damaging	Het
Pds5b	G	A	5: 150,749,830		probably benign	Het
Ppp3cb	C	T	14: 20,531,768	V60I	probably benign	Het
Prc1	T	C	7: 80,311,061		probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc44a5	G	A	3: 154,240,270		probably benign	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Trim6	T	A	7: 104,225,809		probably null	Het
Ttn	T	C	2: 76,769,190	T19186A	probably damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Usp32	T	C	11: 85,032,074	S673G	possibly damaging	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Vwa3a	A	G	7: 120,780,211	Q513R	probably damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Prpf31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Prpf31	APN	7	3634186	missense	possibly damaging	0.61
IGL02537:Prpf31	APN	7	3638751	missense	probably damaging	1.00
IGL02547:Prpf31	APN	7	3630899	missense	probably benign	0.00
IGL02979:Prpf31	APN	7	3630599	unclassified	probably benign
R0024:Prpf31	UTSW	7	3636659	splice site	probably null
R0024:Prpf31	UTSW	7	3636659	splice site	probably null
R0026:Prpf31	UTSW	7	3639668	missense	probably benign	0.18
R1523:Prpf31	UTSW	7	3640857	missense	probably damaging	1.00
R5078:Prpf31	UTSW	7	3634703	missense	possibly damaging	0.72
R5243:Prpf31	UTSW	7	3638754	nonsense	probably null
R5473:Prpf31	UTSW	7	3639825	missense	probably benign	0.20
R6025:Prpf31	UTSW	7	3639669	missense	probably benign	0.06
R6115:Prpf31	UTSW	7	3639706	critical splice donor site	probably null
R7330:Prpf31	UTSW	7	3639855	missense	probably damaging	0.99
R7469:Prpf31	UTSW	7	3633393	missense	possibly damaging	0.89
R7869:Prpf31	UTSW	7	3630860	missense	probably benign
R8293:Prpf31	UTSW	7	3640918	missense	probably damaging	0.99
R8518:Prpf31	UTSW	7	3632743	missense	probably damaging	0.97

Posted On

2012-12-12