Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Cpsf2'

500798

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, 2610024B04Rik, Cpsf

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101975988-102006424 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101987308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 199 (I199T)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

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

AlphaFold

O35218

Predicted Effect

probably damaging
Transcript: ENSMUST00000047357
AA Change: I199T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: I199T

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

0.8510

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Cpsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Cpsf2	APN	12	101983466	missense	probably damaging	1.00
IGL01114:Cpsf2	APN	12	101989839	missense	possibly damaging	0.93
IGL01121:Cpsf2	APN	12	101988706	missense	probably damaging	1.00
IGL01377:Cpsf2	APN	12	101987381	splice site	probably null
IGL01465:Cpsf2	APN	12	101997333	missense	probably damaging	1.00
IGL02861:Cpsf2	APN	12	101999566	missense	probably benign	0.00
R0469:Cpsf2	UTSW	12	101988786	missense	probably damaging	1.00
R0504:Cpsf2	UTSW	12	101990003	missense	probably damaging	1.00
R0510:Cpsf2	UTSW	12	101988786	missense	probably damaging	1.00
R0626:Cpsf2	UTSW	12	101985231	missense	probably benign	0.09
R0697:Cpsf2	UTSW	12	101983184	missense	probably benign	0.34
R0837:Cpsf2	UTSW	12	101997242	splice site	probably benign
R1475:Cpsf2	UTSW	12	101985236	missense	probably damaging	1.00
R1709:Cpsf2	UTSW	12	101999542	missense	probably damaging	1.00
R1974:Cpsf2	UTSW	12	101990047	missense	probably benign	0.33
R1996:Cpsf2	UTSW	12	101998608	missense	probably benign	0.18
R2063:Cpsf2	UTSW	12	101983463	missense	probably damaging	1.00
R2164:Cpsf2	UTSW	12	101985335	missense	probably damaging	1.00
R2228:Cpsf2	UTSW	12	101989829	missense	probably benign	0.00
R3082:Cpsf2	UTSW	12	101988810	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101987308	missense	probably damaging	0.99
R3733:Cpsf2	UTSW	12	101987308	missense	probably damaging	0.99
R4627:Cpsf2	UTSW	12	101989895	missense	probably benign	0.18
R4665:Cpsf2	UTSW	12	101983207	missense	probably damaging	1.00
R4666:Cpsf2	UTSW	12	101983207	missense	probably damaging	1.00
R4765:Cpsf2	UTSW	12	101997440	missense	probably damaging	1.00
R4777:Cpsf2	UTSW	12	101996832	missense	probably damaging	0.99
R4847:Cpsf2	UTSW	12	101997302	missense	probably benign	0.18
R4923:Cpsf2	UTSW	12	101981984	missense	probably benign
R4975:Cpsf2	UTSW	12	101983493	missense	probably damaging	1.00
R5239:Cpsf2	UTSW	12	101987273	nonsense	probably null
R5440:Cpsf2	UTSW	12	101996879	missense	probably benign
R5601:Cpsf2	UTSW	12	101985355	splice site	probably null
R5603:Cpsf2	UTSW	12	101998631	missense	probably benign	0.02
R5841:Cpsf2	UTSW	12	101985238	missense	probably damaging	0.99
R6153:Cpsf2	UTSW	12	101999360	splice site	probably null
R6663:Cpsf2	UTSW	12	101999593	missense	probably damaging	1.00
R7451:Cpsf2	UTSW	12	102000792	missense	possibly damaging	0.52
R8357:Cpsf2	UTSW	12	102002670	missense	probably damaging	0.99
R8457:Cpsf2	UTSW	12	102002670	missense	probably damaging	0.99
R9123:Cpsf2	UTSW	12	101997296	missense	probably damaging	0.96
R9433:Cpsf2	UTSW	12	101981993	missense	probably damaging	1.00
V8831:Cpsf2	UTSW	12	102003141	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-12-01