Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Cpsf2'

228878

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, 2610024B04Rik, Cpsf

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101975988-102006424 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101983463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 118 (D118G)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

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

AlphaFold

O35218

Predicted Effect

probably damaging
Transcript: ENSMUST00000047357
AA Change: D118G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: D118G

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702 (GRCm38)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322 (GRCm38)		probably benign	Het
Abca15	A	T	7: 120,360,904 (GRCm38)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,561,469 (GRCm38)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,739,122 (GRCm38)		probably null	Het
AI467606	A	G	7: 127,092,837 (GRCm38)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,316,002 (GRCm38)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496 (GRCm38)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,551,942 (GRCm38)	H156Q	probably benign	Het
Cic	T	A	7: 25,273,451 (GRCm38)	V869E	probably damaging	Het
Csnk1g1	A	G	9: 66,002,230 (GRCm38)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,786,780 (GRCm38)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,433,503 (GRCm38)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,523,799 (GRCm38)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,951,909 (GRCm38)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,030,577 (GRCm38)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,253,450 (GRCm38)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,274,955 (GRCm38)	S259G	probably benign	Het
Endov	T	C	11: 119,499,582 (GRCm38)	F12S	probably damaging	Het
Faim2	G	A	15: 99,514,433 (GRCm38)	T140I	probably damaging	Het
Fbxo21	T	C	5: 117,976,966 (GRCm38)	S56P	probably benign	Het
Fgb	C	A	3: 83,049,689 (GRCm38)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,840,241 (GRCm38)	H509L	probably benign	Het
Fth1	T	A	19: 9,984,212 (GRCm38)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,328,584 (GRCm38)	E220*	probably null	Het
Gm12695	T	C	4: 96,769,726 (GRCm38)	T69A	probably benign	Het
Gm1527	C	A	3: 28,926,647 (GRCm38)	T632N	probably benign	Het
Gm4787	A	T	12: 81,378,920 (GRCm38)	S155T	probably benign	Het
Gm9573	T	A	17: 35,621,405 (GRCm38)		probably benign	Het
Gtf2f2	A	G	14: 75,917,696 (GRCm38)	S142P	possibly damaging	Het
Helb	T	C	10: 120,105,766 (GRCm38)	Y339C	probably benign	Het
Hs3st4	A	G	7: 124,397,013 (GRCm38)	I301V	probably benign	Het
Hunk	A	G	16: 90,493,480 (GRCm38)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,522,759 (GRCm38)	I6F	possibly damaging	Het
Il10	T	C	1: 131,020,033 (GRCm38)	L41P	probably damaging	Het
Il2rg	A	G	X: 101,267,810 (GRCm38)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm38)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,098,076 (GRCm38)	M768I	probably benign	Het
Krt90	T	C	15: 101,558,359 (GRCm38)	E263G	probably benign	Het
Lama2	C	T	10: 27,164,926 (GRCm38)	C1467Y	probably damaging	Het
Med24	A	G	11: 98,715,646 (GRCm38)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,349,023 (GRCm38)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,346,355 (GRCm38)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,240,361 (GRCm38)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,082,708 (GRCm38)	E657G	probably damaging	Het
Myo5c	A	T	9: 75,281,868 (GRCm38)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,449,004 (GRCm38)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,570,150 (GRCm38)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,161,086 (GRCm38)	N1012D	probably benign	Het
Ntrk2	A	C	13: 58,859,297 (GRCm38)	K238Q	probably damaging	Het
Oas1g	T	C	5: 120,885,883 (GRCm38)	E121G	probably damaging	Het
Olfr324	A	G	11: 58,597,570 (GRCm38)	N58S	probably damaging	Het
Olfr667	T	C	7: 104,916,775 (GRCm38)	N174D	probably benign	Het
Pcdh8	A	T	14: 79,768,211 (GRCm38)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,429,873 (GRCm38)	S496L	probably damaging	Het
Phc2	T	C	4: 128,747,136 (GRCm38)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,550,752 (GRCm38)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,840,676 (GRCm38)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751 (GRCm38)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,936,285 (GRCm38)		probably null	Het
Prl3d3	A	C	13: 27,162,321 (GRCm38)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,660,887 (GRCm38)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,844,239 (GRCm38)	D383E	probably benign	Het
Psmc4	A	T	7: 28,048,897 (GRCm38)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,766,961 (GRCm38)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,410,824 (GRCm38)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm38)	V83G	probably damaging	Het
Rnls	A	C	19: 33,202,544 (GRCm38)	S51A	probably benign	Het
Siglecf	A	G	7: 43,352,380 (GRCm38)	T205A	possibly damaging	Het
Skint1	T	A	4: 112,025,533 (GRCm38)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,997,147 (GRCm38)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871 (GRCm38)		probably benign	Het
Specc1	T	G	11: 62,118,296 (GRCm38)	S293A	probably benign	Het
Speer2	T	G	16: 69,860,497 (GRCm38)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,229,173 (GRCm38)	D169G	probably benign	Het
Tbx20	C	A	9: 24,769,771 (GRCm38)	E142*	probably null	Het
Tcp1	T	A	17: 12,920,812 (GRCm38)	L199H	probably damaging	Het
Tex26	A	T	5: 149,439,739 (GRCm38)	R5W	probably damaging	Het
Tg	C	A	15: 66,828,553 (GRCm38)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,175,396 (GRCm38)	Y654C	possibly damaging	Het
Tmem57	A	T	4: 134,828,279 (GRCm38)	N294K	possibly damaging	Het
Troap	T	C	15: 99,082,463 (GRCm38)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm38)	A752T	probably benign	Het
Ush1c	T	C	7: 46,229,481 (GRCm38)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049 (GRCm38)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553 (GRCm38)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,277,955 (GRCm38)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,579,162 (GRCm38)		probably null	Het
Zfp81	T	C	17: 33,335,304 (GRCm38)	T179A	probably benign	Het

Other mutations in Cpsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Cpsf2	APN	12	101,983,466 (GRCm38)	missense	probably damaging	1.00
IGL01114:Cpsf2	APN	12	101,989,839 (GRCm38)	missense	possibly damaging	0.93
IGL01121:Cpsf2	APN	12	101,988,706 (GRCm38)	missense	probably damaging	1.00
IGL01377:Cpsf2	APN	12	101,987,381 (GRCm38)	splice site	probably null
IGL01465:Cpsf2	APN	12	101,997,333 (GRCm38)	missense	probably damaging	1.00
IGL02861:Cpsf2	APN	12	101,999,566 (GRCm38)	missense	probably benign	0.00
R0469:Cpsf2	UTSW	12	101,988,786 (GRCm38)	missense	probably damaging	1.00
R0504:Cpsf2	UTSW	12	101,990,003 (GRCm38)	missense	probably damaging	1.00
R0510:Cpsf2	UTSW	12	101,988,786 (GRCm38)	missense	probably damaging	1.00
R0626:Cpsf2	UTSW	12	101,985,231 (GRCm38)	missense	probably benign	0.09
R0697:Cpsf2	UTSW	12	101,983,184 (GRCm38)	missense	probably benign	0.34
R0837:Cpsf2	UTSW	12	101,997,242 (GRCm38)	splice site	probably benign
R1475:Cpsf2	UTSW	12	101,985,236 (GRCm38)	missense	probably damaging	1.00
R1709:Cpsf2	UTSW	12	101,999,542 (GRCm38)	missense	probably damaging	1.00
R1974:Cpsf2	UTSW	12	101,990,047 (GRCm38)	missense	probably benign	0.33
R1996:Cpsf2	UTSW	12	101,998,608 (GRCm38)	missense	probably benign	0.18
R2164:Cpsf2	UTSW	12	101,985,335 (GRCm38)	missense	probably damaging	1.00
R2228:Cpsf2	UTSW	12	101,989,829 (GRCm38)	missense	probably benign	0.00
R3082:Cpsf2	UTSW	12	101,988,810 (GRCm38)	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101,987,308 (GRCm38)	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101,987,308 (GRCm38)	missense	probably damaging	0.99
R3733:Cpsf2	UTSW	12	101,987,308 (GRCm38)	missense	probably damaging	0.99
R4627:Cpsf2	UTSW	12	101,989,895 (GRCm38)	missense	probably benign	0.18
R4665:Cpsf2	UTSW	12	101,983,207 (GRCm38)	missense	probably damaging	1.00
R4666:Cpsf2	UTSW	12	101,983,207 (GRCm38)	missense	probably damaging	1.00
R4765:Cpsf2	UTSW	12	101,997,440 (GRCm38)	missense	probably damaging	1.00
R4777:Cpsf2	UTSW	12	101,996,832 (GRCm38)	missense	probably damaging	0.99
R4847:Cpsf2	UTSW	12	101,997,302 (GRCm38)	missense	probably benign	0.18
R4923:Cpsf2	UTSW	12	101,981,984 (GRCm38)	missense	probably benign
R4975:Cpsf2	UTSW	12	101,983,493 (GRCm38)	missense	probably damaging	1.00
R5239:Cpsf2	UTSW	12	101,987,273 (GRCm38)	nonsense	probably null
R5440:Cpsf2	UTSW	12	101,996,879 (GRCm38)	missense	probably benign
R5601:Cpsf2	UTSW	12	101,985,355 (GRCm38)	splice site	probably null
R5603:Cpsf2	UTSW	12	101,998,631 (GRCm38)	missense	probably benign	0.02
R5841:Cpsf2	UTSW	12	101,985,238 (GRCm38)	missense	probably damaging	0.99
R6153:Cpsf2	UTSW	12	101,999,360 (GRCm38)	splice site	probably null
R6663:Cpsf2	UTSW	12	101,999,593 (GRCm38)	missense	probably damaging	1.00
R7451:Cpsf2	UTSW	12	102,000,792 (GRCm38)	missense	possibly damaging	0.52
R8357:Cpsf2	UTSW	12	102,002,670 (GRCm38)	missense	probably damaging	0.99
R8457:Cpsf2	UTSW	12	102,002,670 (GRCm38)	missense	probably damaging	0.99
R9123:Cpsf2	UTSW	12	101,997,296 (GRCm38)	missense	probably damaging	0.96
R9433:Cpsf2	UTSW	12	101,981,993 (GRCm38)	missense	probably damaging	1.00
V8831:Cpsf2	UTSW	12	102,003,141 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCCATCTATGCAACAATTCC -3'
(R):5'- TACGTGGGAGATTCCTTGCC -3'

Sequencing Primer
(F):5'- TCCTGTGTATAAAATGGGCCAG -3'
(R):5'- AGATTCCTTGCCCAGCATGAG -3'

Posted On

2014-09-17