Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Cpsf2'

235375

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, Cpsf, 2610024B04Rik

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101942247-101972683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101951594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 177 (N177S)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

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

AlphaFold

O35218

Predicted Effect

probably damaging
Transcript: ENSMUST00000047357
AA Change: N177S

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

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: N177S

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: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf6	A	G	1: 170,622,304 (GRCm39)	M439T	probably damaging	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Relb	A	C	7: 19,347,686 (GRCm39)		probably null	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Tomm40l	C	T	1: 171,047,703 (GRCm39)	S220N	probably damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Uba5	A	T	9: 103,937,442 (GRCm39)	M89K	probably damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,191,557 (GRCm39)	V223A	probably benign	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	possibly damaging	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
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'- TTGTAAGTCCCATTGCTGCC -3'
(R):5'- TTGTTGCCCTACAATGAGAACAC -3'

Sequencing Primer
(F):5'- TATCTAGATAGATACCTCCAGGGG -3'
(R):5'- AGAACACTCAGTACTTGGTGGTC -3'

Posted On

2014-10-01