Mutagenetix > Incidental Mutation

Incidental Mutation 'R7330:Prpf31'

569176

Institutional Source

Beutler Lab

Gene Symbol

Prpf31

Ensembl Gene

ENSMUSG00000008373

Gene Name

pre-mRNA processing factor 31

Synonyms

PRP31, 1500019O16Rik, 2810404O06Rik, RP11

MMRRC Submission

045423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3632984-3645484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3642854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 448 (T448A)

Ref Sequence

ENSEMBL: ENSMUSP00000008517 (fasta)

Gene Model

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

AlphaFold

Q8CCF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000008517
AA Change: T448A

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

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: T448A

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 damaging
Transcript: ENSMUST00000108636
AA Change: T442A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: T442A

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: T442A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: T442A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,977,450 (GRCm39)	T411A	possibly damaging	Het
Ace	A	G	11: 105,876,887 (GRCm39)	H1123R	probably damaging	Het
Acot12	T	A	13: 91,889,651 (GRCm39)	M1K	probably null	Het
Actr2	A	T	11: 20,022,544 (GRCm39)	M309K	probably damaging	Het
Ahsa2	G	T	11: 23,440,558 (GRCm39)	T279K	probably benign	Het
Ak8	A	G	2: 28,702,947 (GRCm39)	Y437C	possibly damaging	Het
Atp1a3	T	A	7: 24,700,577 (GRCm39)	K5*	probably null	Het
Bbs2	T	A	8: 94,814,033 (GRCm39)	E195V	possibly damaging	Het
C4b	T	A	17: 34,949,446 (GRCm39)	Y1505F	probably damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Cdh18	G	A	15: 23,227,036 (GRCm39)	V166I	possibly damaging	Het
Cep135	T	A	5: 76,754,592 (GRCm39)	C356*	probably null	Het
Cilp	A	T	9: 65,187,527 (GRCm39)	R1207S	probably benign	Het
Clcnkb	A	G	4: 141,137,923 (GRCm39)	I291T	possibly damaging	Het
Clrn3	G	T	7: 135,130,198 (GRCm39)	S12Y	probably damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cpvl	A	G	6: 53,951,744 (GRCm39)	I13T	probably benign	Het
Cyp2c68	A	G	19: 39,677,634 (GRCm39)	I452T	probably damaging	Het
Dhh	A	G	15: 98,792,291 (GRCm39)	V239A	probably damaging	Het
Edar	T	G	10: 58,446,376 (GRCm39)	H183P	probably damaging	Het
Epha2	T	A	4: 141,035,764 (GRCm39)	S67T	probably benign	Het
Gapdh	A	G	6: 125,139,900 (GRCm39)	L168P	probably benign	Het
Grm4	C	T	17: 27,653,798 (GRCm39)	W717*	probably null	Het
Gtf3c1	T	C	7: 125,303,055 (GRCm39)	I127V	probably benign	Het
Igkv4-72	C	T	6: 69,204,087 (GRCm39)	A35T	probably damaging	Het
Il6st	T	A	13: 112,630,185 (GRCm39)	S344T	probably benign	Het
Ip6k1	A	G	9: 107,922,452 (GRCm39)	D168G	possibly damaging	Het
Itpr1	G	A	6: 108,415,292 (GRCm39)	R1742H	probably benign	Het
Lat2	T	A	5: 134,635,641 (GRCm39)	T58S	probably damaging	Het
Limk2	T	C	11: 3,296,311 (GRCm39)	K566E	probably benign	Het
Lonp2	C	A	8: 87,358,022 (GRCm39)	T81K	probably damaging	Het
Mdn1	C	A	4: 32,723,685 (GRCm39)	N2540K	probably benign	Het
Myt1l	T	A	12: 29,901,553 (GRCm39)	D769E	unknown	Het
Neb	C	T	2: 52,079,715 (GRCm39)	V5780M	possibly damaging	Het
Or1j18	T	A	2: 36,625,057 (GRCm39)	C241*	probably null	Het
Or5d35	C	A	2: 87,855,265 (GRCm39)	H66Q	possibly damaging	Het
Or6c8b	C	T	10: 128,882,333 (GRCm39)	V200M	probably damaging	Het
Or7g25	T	A	9: 19,160,567 (GRCm39)	I43F	probably benign	Het
Pcdhga12	T	C	18: 37,901,439 (GRCm39)	V757A	probably damaging	Het
Rbm6	A	T	9: 107,668,244 (GRCm39)	M694K	possibly damaging	Het
Ropn1l	T	C	15: 31,451,349 (GRCm39)	Y45C		Het
Selenbp1	T	A	3: 94,847,021 (GRCm39)	D182E	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Spef1	G	A	2: 131,014,653 (GRCm39)	R90W	probably damaging	Het
Sspo	A	G	6: 48,452,396 (GRCm39)	S2787G	probably benign	Het
Stox2	A	G	8: 47,645,271 (GRCm39)	S730P	possibly damaging	Het
Syne1	T	C	10: 5,078,434 (GRCm39)	N997S	probably benign	Het
Tipin	A	G	9: 64,195,508 (GRCm39)	D38G	probably benign	Het
Tshz1	T	A	18: 84,032,956 (GRCm39)	K484M	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	A	AAGTAC	6: 113,376,125 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,747,355 (GRCm39)	V4565I	probably benign	Het
Ubr7	A	G	12: 102,741,971 (GRCm39)	I402V	probably damaging	Het
Ucn3	A	T	13: 3,991,216 (GRCm39)	N145K	possibly damaging	Het
Utp18	A	T	11: 93,772,899 (GRCm39)		probably null	Het
Utp20	GAA	GA	10: 88,623,424 (GRCm39)		probably null	Het
Vmn1r189	A	G	13: 22,286,711 (GRCm39)	I42T	possibly damaging	Het
Vmn2r91	T	C	17: 18,326,429 (GRCm39)	M238T	probably damaging	Het
Washc5	G	T	15: 59,205,516 (GRCm39)	A1125D	probably benign	Het
Wsb2	A	G	5: 117,508,827 (GRCm39)	E87G	probably damaging	Het
Zfat	G	A	15: 68,084,600 (GRCm39)	P97L	probably benign	Het
Zfp87	T	G	13: 74,523,153 (GRCm39)	T22P	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
R7469:Prpf31	UTSW	7	3,636,392 (GRCm39)	missense	possibly damaging	0.89
R7869:Prpf31	UTSW	7	3,633,859 (GRCm39)	missense	probably benign
R8293:Prpf31	UTSW	7	3,643,917 (GRCm39)	missense	probably damaging	0.99
R8518:Prpf31	UTSW	7	3,635,742 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGAAGACCTGGGCTTTAGC -3'
(R):5'- GTCTGAGTTTGTCACAACTGTC -3'

Sequencing Primer
(F):5'- CTTTAGCCTGGGCCACTTGG -3'
(R):5'- CAACTGTCATGGCCAACTGTTAGG -3'

Posted On

2019-09-13