Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Cpsf2'

499971

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, Cpsf, 2610024B04Rik

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101942247-101972683 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101965619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

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

AlphaFold

O35218

Predicted Effect

probably null
Transcript: ENSMUST00000047357

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	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
R0697:Cpsf2	UTSW	12	101,949,443 (GRCm39)	missense	probably benign	0.34
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
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'- GGAATTTGAATCATCAGCTAACACG -3'
(R):5'- CGTGCAGCTTTGGCATGTAC -3'

Sequencing Primer
(F):5'- AACACGTGGTTTATTTGCCCAG -3'
(R):5'- GCTTTGGCATGTACACTTTAATATC -3'

Posted On

2017-11-30