Mutagenetix > Incidental Mutation

Incidental Mutation 'R0697:Cpsf2'

63902

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, Cpsf, 2610024B04Rik

MMRRC Submission

038881-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0697 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

101942247-101972683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101949443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 53 (H53R)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047357]

AlphaFold

O35218

Predicted Effect

probably benign
Transcript: ENSMUST00000047357
AA Change: H53R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: H53R

Domain	Start	End	E-Value	Type
Lactamase_B	17	223	5.22e-1	SMART
Beta-Casp	243	368	1.8e-21	SMART
coiled coil region	380	418	N/A	INTRINSIC
Pfam:RMMBL	527	569	1.2e-14	PFAM
Pfam:CPSF100_C	608	779	5.7e-46	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,888,567 (GRCm39)	A99E	probably damaging	Het
Aig1	T	C	10: 13,705,069 (GRCm39)	N72S	probably benign	Het
Atad2	T	C	15: 57,968,939 (GRCm39)	I857M	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Crh	C	A	3: 19,748,241 (GRCm39)	G134C	probably damaging	Het
Cyp2g1	A	T	7: 26,514,152 (GRCm39)	K253*	probably null	Het
Dna2	T	C	10: 62,785,120 (GRCm39)	V79A	probably benign	Het
Dsc2	A	G	18: 20,174,509 (GRCm39)	V549A	probably damaging	Het
Etl4	G	T	2: 20,748,672 (GRCm39)	V135F	probably damaging	Het
Frk	A	G	10: 34,483,833 (GRCm39)	H398R	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Htr1b	T	C	9: 81,513,516 (GRCm39)	I364V	possibly damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	G	A	13: 47,001,813 (GRCm39)	T70I	probably benign	Het
Klra6	T	C	6: 129,993,687 (GRCm39)	I195V	probably benign	Het
Nras	T	C	3: 102,967,616 (GRCm39)	Y71H	possibly damaging	Het
Sirt5	T	C	13: 43,539,052 (GRCm39)	F274L	probably damaging	Het
Synj1	T	C	16: 90,757,503 (GRCm39)	T882A	probably benign	Het
Vmn1r84	A	T	7: 12,096,690 (GRCm39)	M1K	probably null	Het
Zfhx4	A	T	3: 5,466,793 (GRCm39)	E2317V	probably damaging	Het
Zfp345	A	T	2: 150,314,829 (GRCm39)	I236K	probably benign	Het

Other mutations in Cpsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Cpsf2	APN	12	101,949,725 (GRCm39)	missense	probably damaging	1.00
IGL01114:Cpsf2	APN	12	101,956,098 (GRCm39)	missense	possibly damaging	0.93
IGL01121:Cpsf2	APN	12	101,954,965 (GRCm39)	missense	probably damaging	1.00
IGL01377:Cpsf2	APN	12	101,953,640 (GRCm39)	splice site	probably null
IGL01465:Cpsf2	APN	12	101,963,592 (GRCm39)	missense	probably damaging	1.00
IGL02861:Cpsf2	APN	12	101,965,825 (GRCm39)	missense	probably benign	0.00
R0469:Cpsf2	UTSW	12	101,955,045 (GRCm39)	missense	probably damaging	1.00
R0504:Cpsf2	UTSW	12	101,956,262 (GRCm39)	missense	probably damaging	1.00
R0510:Cpsf2	UTSW	12	101,955,045 (GRCm39)	missense	probably damaging	1.00
R0626:Cpsf2	UTSW	12	101,951,490 (GRCm39)	missense	probably benign	0.09
R0837:Cpsf2	UTSW	12	101,963,501 (GRCm39)	splice site	probably benign
R1475:Cpsf2	UTSW	12	101,951,495 (GRCm39)	missense	probably damaging	1.00
R1709:Cpsf2	UTSW	12	101,965,801 (GRCm39)	missense	probably damaging	1.00
R1974:Cpsf2	UTSW	12	101,956,306 (GRCm39)	missense	probably benign	0.33
R1996:Cpsf2	UTSW	12	101,964,867 (GRCm39)	missense	probably benign	0.18
R2063:Cpsf2	UTSW	12	101,949,722 (GRCm39)	missense	probably damaging	1.00
R2164:Cpsf2	UTSW	12	101,951,594 (GRCm39)	missense	probably damaging	1.00
R2228:Cpsf2	UTSW	12	101,956,088 (GRCm39)	missense	probably benign	0.00
R3082:Cpsf2	UTSW	12	101,955,069 (GRCm39)	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101,953,567 (GRCm39)	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101,953,567 (GRCm39)	missense	probably damaging	0.99
R3733:Cpsf2	UTSW	12	101,953,567 (GRCm39)	missense	probably damaging	0.99
R4627:Cpsf2	UTSW	12	101,956,154 (GRCm39)	missense	probably benign	0.18
R4665:Cpsf2	UTSW	12	101,949,466 (GRCm39)	missense	probably damaging	1.00
R4666:Cpsf2	UTSW	12	101,949,466 (GRCm39)	missense	probably damaging	1.00
R4765:Cpsf2	UTSW	12	101,963,699 (GRCm39)	missense	probably damaging	1.00
R4777:Cpsf2	UTSW	12	101,963,091 (GRCm39)	missense	probably damaging	0.99
R4847:Cpsf2	UTSW	12	101,963,561 (GRCm39)	missense	probably benign	0.18
R4923:Cpsf2	UTSW	12	101,948,243 (GRCm39)	missense	probably benign
R4975:Cpsf2	UTSW	12	101,949,752 (GRCm39)	missense	probably damaging	1.00
R5239:Cpsf2	UTSW	12	101,953,532 (GRCm39)	nonsense	probably null
R5440:Cpsf2	UTSW	12	101,963,138 (GRCm39)	missense	probably benign
R5601:Cpsf2	UTSW	12	101,951,614 (GRCm39)	splice site	probably null
R5603:Cpsf2	UTSW	12	101,964,890 (GRCm39)	missense	probably benign	0.02
R5841:Cpsf2	UTSW	12	101,951,497 (GRCm39)	missense	probably damaging	0.99
R6153:Cpsf2	UTSW	12	101,965,619 (GRCm39)	splice site	probably null
R6663:Cpsf2	UTSW	12	101,965,852 (GRCm39)	missense	probably damaging	1.00
R7451:Cpsf2	UTSW	12	101,967,051 (GRCm39)	missense	possibly damaging	0.52
R8357:Cpsf2	UTSW	12	101,968,929 (GRCm39)	missense	probably damaging	0.99
R8457:Cpsf2	UTSW	12	101,968,929 (GRCm39)	missense	probably damaging	0.99
R9123:Cpsf2	UTSW	12	101,963,555 (GRCm39)	missense	probably damaging	0.96
R9433:Cpsf2	UTSW	12	101,948,252 (GRCm39)	missense	probably damaging	1.00
V8831:Cpsf2	UTSW	12	101,969,400 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGAGTCATTGCATTAGCCCTTG -3'
(R):5'- TGTCAAAGGCTGCATCCACATCATC -3'

Sequencing Primer
(F):5'- CATTAGCCCTTGGGTTTGC -3'
(R):5'- TCCACATCATCCAATGTAAAGAGGG -3'

Posted On

2013-07-30