Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Prpf31'

638793

Institutional Source

Beutler Lab

Gene Symbol

Prpf31

Ensembl Gene

ENSMUSG00000008373

Gene Name

pre-mRNA processing factor 31

Synonyms

PRP31, 1500019O16Rik, 2810404O06Rik, RP11

MMRRC Submission

067783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3632984-3645484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3643917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 499 (T499I)

Ref Sequence

ENSEMBL: ENSMUSP00000008517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000038913] [ENSMUST00000108636] [ENSMUST00000125782] [ENSMUST00000179769] [ENSMUST00000206287]

AlphaFold

Q8CCF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000008517
AA Change: T499I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: T499I

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: ENSMUST00000038913

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632

Domain	Start	End	E-Value	Type
Pfam:Not3	3	232	6.5e-99	PFAM
low complexity region	257	274	N/A	INTRINSIC
low complexity region	316	338	N/A	INTRINSIC
low complexity region	384	426	N/A	INTRINSIC
low complexity region	441	450	N/A	INTRINSIC
low complexity region	473	509	N/A	INTRINSIC
low complexity region	570	587	N/A	INTRINSIC
Pfam:NOT2_3_5	618	745	3.7e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108636
AA Change: T493I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: T493I

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

probably damaging
Transcript: ENSMUST00000179769
AA Change: T493I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: T493I

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: ENSMUST00000206287

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,864 (GRCm39)	S105P	possibly damaging	Het
Acsm1	T	G	7: 119,237,319 (GRCm39)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,467,185 (GRCm39)	R479*	probably null	Het
Agap3	A	C	5: 24,692,883 (GRCm39)	S439R	probably damaging	Het
Arap1	A	T	7: 101,050,141 (GRCm39)	H1075L	probably benign	Het
Arhgef28	T	C	13: 98,079,029 (GRCm39)	E1299G	probably benign	Het
Bnip5	T	C	17: 29,121,864 (GRCm39)	K468E	probably benign	Het
Cc2d2a	A	T	5: 43,845,570 (GRCm39)	I329F	probably damaging	Het
Ccdc9b	T	A	2: 118,591,796 (GRCm39)	T115S	probably damaging	Het
Cd200r1	A	G	16: 44,610,084 (GRCm39)	N101S	probably benign	Het
Ces2b	A	C	8: 105,559,258 (GRCm39)	T40P	unknown	Het
Cfap221	A	G	1: 119,909,504 (GRCm39)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,758,563 (GRCm39)	P324S	probably benign	Het
Chrna1	T	A	2: 73,400,850 (GRCm39)	M227L	probably benign	Het
Cntln	A	G	4: 84,952,075 (GRCm39)	D639G	probably damaging	Het
Cts8	A	G	13: 61,401,882 (GRCm39)	V5A	probably benign	Het
Cxcl2	A	T	5: 91,052,088 (GRCm39)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,552,411 (GRCm39)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,147,939 (GRCm39)	S205T	probably benign	Het
Dagla	A	T	19: 10,229,401 (GRCm39)		probably null	Het
Dtnbp1	G	A	13: 45,084,615 (GRCm39)	T175I	probably benign	Het
Dtx3	A	G	10: 127,026,882 (GRCm39)	L332P	probably damaging	Het
E2f4	A	G	8: 106,024,451 (GRCm39)	T27A	probably damaging	Het
Ep400	A	G	5: 110,856,758 (GRCm39)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fbxo40	T	C	16: 36,790,387 (GRCm39)	D241G	probably benign	Het
Fus	T	C	7: 127,571,749 (GRCm39)	S184P	unknown	Het
Gabarap	C	A	11: 69,883,498 (GRCm39)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,372,235 (GRCm39)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,256,646 (GRCm39)	Y368H	probably damaging	Het
Heca	A	G	10: 17,778,011 (GRCm39)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,852,497 (GRCm39)	R714*	probably null	Het
Lvrn	C	A	18: 46,983,632 (GRCm39)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,455,660 (GRCm39)	S156R	probably benign	Het
Nab2	C	A	10: 127,502,266 (GRCm39)	R21L	possibly damaging	Het
Neb	A	T	2: 52,136,827 (GRCm39)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,962,663 (GRCm39)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,228,804 (GRCm39)	Q7L	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or4f62	A	T	2: 111,986,598 (GRCm39)	M101L	probably benign	Het
Or5p4	A	T	7: 107,680,269 (GRCm39)	E89D	probably benign	Het
Or8g26	A	G	9: 39,095,689 (GRCm39)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,531,917 (GRCm39)	I29T	probably damaging	Het
Rnf130	T	A	11: 49,986,623 (GRCm39)	D322E	probably benign	Het
Ros1	T	C	10: 51,964,014 (GRCm39)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,428,548 (GRCm39)	D202E	probably damaging	Het
Simc1	A	G	13: 54,674,359 (GRCm39)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,361,348 (GRCm39)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,724,224 (GRCm39)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,264,984 (GRCm39)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,445,791 (GRCm39)	E456A	probably benign	Het
Stip1	T	C	19: 7,011,618 (GRCm39)	N139S	probably benign	Het
Taar8c	C	T	10: 23,977,015 (GRCm39)	V266M	probably benign	Het
Tank	T	A	2: 61,474,758 (GRCm39)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,694,020 (GRCm39)	T714A	probably benign	Het
Tenm3	A	T	8: 48,820,457 (GRCm39)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,645,969 (GRCm39)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,696,218 (GRCm39)	H2741R		Het
Wnt10a	G	T	1: 74,842,376 (GRCm39)	R284L	probably damaging	Het

Other mutations in Prpf31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Prpf31	APN	7	3,637,185 (GRCm39)	missense	possibly damaging	0.61
IGL02537:Prpf31	APN	7	3,641,750 (GRCm39)	missense	probably damaging	1.00
IGL02547:Prpf31	APN	7	3,633,898 (GRCm39)	missense	probably benign	0.00
IGL02979:Prpf31	APN	7	3,633,598 (GRCm39)	unclassified	probably benign
R0024:Prpf31	UTSW	7	3,639,658 (GRCm39)	splice site	probably null
R0024:Prpf31	UTSW	7	3,639,658 (GRCm39)	splice site	probably null
R0026:Prpf31	UTSW	7	3,642,667 (GRCm39)	missense	probably benign	0.18
R0026:Prpf31	UTSW	7	3,642,667 (GRCm39)	missense	probably benign	0.18
R1523:Prpf31	UTSW	7	3,643,856 (GRCm39)	missense	probably damaging	1.00
R5078:Prpf31	UTSW	7	3,637,702 (GRCm39)	missense	possibly damaging	0.72
R5243:Prpf31	UTSW	7	3,641,753 (GRCm39)	nonsense	probably null
R5473:Prpf31	UTSW	7	3,642,824 (GRCm39)	missense	probably benign	0.20
R6025:Prpf31	UTSW	7	3,642,668 (GRCm39)	missense	probably benign	0.06
R6115:Prpf31	UTSW	7	3,642,705 (GRCm39)	critical splice donor site	probably null
R7330:Prpf31	UTSW	7	3,642,854 (GRCm39)	missense	probably damaging	0.99
R7469:Prpf31	UTSW	7	3,636,392 (GRCm39)	missense	possibly damaging	0.89
R7869:Prpf31	UTSW	7	3,633,859 (GRCm39)	missense	probably benign
R8518:Prpf31	UTSW	7	3,635,742 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTCCACAAGAGTGTCTGGG -3'
(R):5'- GGCAGGCTAAGGTTCTTCATCC -3'

Sequencing Primer
(F):5'- TTCTCATCTAGAGGGAGGCC -3'
(R):5'- ATCCTTTTTCTTGGATGCTATGGC -3'

Posted On

2020-07-28