Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02547:Prpf31'

297860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf31

Ensembl Gene

ENSMUSG00000008373

Gene Name

pre-mRNA processing factor 31

Synonyms

PRP31, 1500019O16Rik, 2810404O06Rik, RP11

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

3629985-3642486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3630899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 78 (S78P)

Ref Sequence

ENSEMBL: ENSMUSP00000136031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000108641] [ENSMUST00000125782] [ENSMUST00000153143] [ENSMUST00000155592] [ENSMUST00000179769] [ENSMUST00000205596] [ENSMUST00000206370]

AlphaFold

Q8CCF0

Predicted Effect

probably benign
Transcript: ENSMUST00000008517
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000058880

SMART Domains

Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335

Domain	Start	End	E-Value	Type
low complexity region	51	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108636
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000108641

SMART Domains

Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335

Domain	Start	End	E-Value	Type
low complexity region	58	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148641

Predicted Effect

probably benign
Transcript: ENSMUST00000153143

Predicted Effect

probably benign
Transcript: ENSMUST00000155592

SMART Domains

Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335

Domain	Start	End	E-Value	Type
low complexity region	58	80	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156194

Predicted Effect

probably benign
Transcript: ENSMUST00000179769
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000205596

Predicted Effect

probably benign
Transcript: ENSMUST00000206370

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	C	T	5: 109,678,762		probably null	Het
Akap6	T	A	12: 53,140,696	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,603,276		probably benign	Het
Atp5o	A	T	16: 91,928,961	Y48N	probably damaging	Het
Birc6	T	G	17: 74,579,645	M656R	probably benign	Het
Camkk1	A	G	11: 73,038,433	R455G	probably benign	Het
Casr	A	T	16: 36,515,674	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,214,146	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,202,504		probably benign	Het
Cdc37	G	T	9: 21,139,966		probably benign	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cyp4f15	A	G	17: 32,700,255	R351G	probably benign	Het
Dclk3	T	C	9: 111,469,023	I545T	probably damaging	Het
Dock4	A	G	12: 40,737,479	M798V	probably benign	Het
Gas7	A	T	11: 67,665,435	Q200L	probably damaging	Het
Gm15448	T	C	7: 3,821,661	D573G	probably damaging	Het
Gm4758	A	T	16: 36,312,526		probably benign	Het
Gm6614	A	T	6: 141,990,390	L323Q	probably damaging	Het
Ica1	T	C	6: 8,670,691		probably null	Het
Idh3a	T	A	9: 54,592,395	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970	T247S	probably benign	Het
Itgb7	A	G	15: 102,218,510	C497R	probably damaging	Het
Itm2c	T	C	1: 85,906,461	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,672,484	D98G	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Muc15	A	G	2: 110,731,305	R29G	probably damaging	Het
Neb	T	A	2: 52,188,730	T142S	probably damaging	Het
Nipbl	G	A	15: 8,351,598	T570I	probably benign	Het
Nr5a2	T	A	1: 136,940,927	M196L	probably benign	Het
Nrp1	C	A	8: 128,493,031	F643L	probably benign	Het
Olfr1098	A	G	2: 86,923,028	F168S	probably damaging	Het
Olfr1441	A	T	19: 12,422,311	M1L	probably benign	Het
Olfr600	A	G	7: 103,346,244	F228S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,766	I16T	probably benign	Het
Osbpl9	C	T	4: 109,068,483	W446*	probably null	Het
Pced1a	T	C	2: 130,419,707	D342G	possibly damaging	Het
Prkcd	C	A	14: 30,599,469	W555L	probably damaging	Het
Psg27	T	C	7: 18,560,628	T285A	probably benign	Het
Retreg3	A	T	11: 101,106,378	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501	K282E	possibly damaging	Het
Sept8	G	T	11: 53,537,265	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,116,543	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301		probably benign	Het
Spats1	A	T	17: 45,474,817		probably benign	Het
Tcerg1l	C	T	7: 138,248,371		probably null	Het
Ttn	A	G	2: 76,729,386	V21230A	probably damaging	Het
Ubxn11	A	C	4: 134,109,584	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,908,019	I979S	possibly damaging	Het
Zc3h6	T	A	2: 129,015,611	H683Q	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp629	T	C	7: 127,611,674		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
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
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

2015-04-16