Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Ctdsp2'

508064

Institutional Source

Beutler Lab

Gene Symbol

Ctdsp2

Ensembl Gene

ENSMUSG00000078429

Gene Name

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

Synonyms

OS4, SCP2, D10Ertd73e

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126978717-126999975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126995880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

Ref Sequence

ENSEMBL: ENSMUSP00000100891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000105255] [ENSMUST00000105256] [ENSMUST00000142698]

AlphaFold

Q8BX07

Predicted Effect

probably benign
Transcript: ENSMUST00000026500

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432

Domain	Start	End	E-Value	Type
GEL	14	111	9.44e-24	SMART
GEL	132	226	8.89e-20	SMART
GEL	253	346	1.19e-29	SMART
GEL	395	492	2.07e-29	SMART
GEL	512	598	4.01e-27	SMART
GEL	617	711	2.81e-31	SMART
VHP	784	819	1.31e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102105

Predicted Effect

probably benign
Transcript: ENSMUST00000105255

SMART Domains

Protein: ENSMUSP00000100890
Gene: ENSMUSG00000078429

Domain	Start	End	E-Value	Type
CPDc	1	91	3.33e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105256
AA Change: V145A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100891
Gene: ENSMUSG00000078429
AA Change: V145A

Domain	Start	End	E-Value	Type
low complexity region	25	32	N/A	INTRINSIC
CPDc	99	242	1.45e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142698

SMART Domains

Protein: ENSMUSP00000117667
Gene: ENSMUSG00000025432

Domain	Start	End	E-Value	Type
SCOP:d1d4xg_	5	53	2e-17	SMART
PDB:2VIL\|A	14	53	2e-14	PDB
Blast:GEL	14	54	7e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217738

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,282,635	R14*	probably null	Het
Acsf3	C	A	8: 122,785,955	R372S	probably damaging	Het
Adamts20	A	G	15: 94,351,721	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,665,031	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486	E305G	possibly damaging	Het
Ccdc83	T	A	7: 90,236,407	R257*	probably null	Het
Cd209e	G	A	8: 3,849,212	Q167*	probably null	Het
Cd300e	G	A	11: 115,054,554	T138I	probably benign	Het
Ces2c	A	T	8: 104,849,699	M115L	probably benign	Het
Cfap61	T	A	2: 146,129,102		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cks2	A	G	13: 51,645,459	H16R	probably benign	Het
Copa	A	T	1: 172,118,848	H953L	possibly damaging	Het
Cyp2j13	A	G	4: 96,056,837	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,274,805	V404A	probably benign	Het
Dock2	T	C	11: 34,707,325	S340G	probably damaging	Het
Ggps1	A	G	13: 14,057,794		probably null	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11444	T	C	11: 85,846,791		probably null	Het
Gm853	A	G	4: 130,221,741	S5P	probably benign	Het
Grina	A	G	15: 76,248,551	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,135,340	T223I	probably benign	Het
Igsf10	T	A	3: 59,319,449	T2268S	probably damaging	Het
Ino80d	C	T	1: 63,062,126	R447Q	probably damaging	Het
Inpp4b	C	T	8: 81,770,833	T94M	probably damaging	Het
Itga2	A	G	13: 114,869,250	Y465H	probably damaging	Het
Knl1	A	G	2: 119,070,286	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,851,035	S180P	unknown	Het
Lpar6	A	T	14: 73,238,857	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,816,864	C2500*	probably null	Het
Mzf1	T	C	7: 13,053,369		probably benign	Het
Olfr1032	G	T	2: 86,008,099	V108L	possibly damaging	Het
Olfr1176	T	A	2: 88,339,658	I31N	probably benign	Het
Olfr1311	A	C	2: 112,021,260	M198R	possibly damaging	Het
Olfr1352	T	C	10: 78,984,279	V163A	probably benign	Het
Otogl	T	G	10: 107,790,500	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,381,554	S768T	possibly damaging	Het
Pcnx2	G	T	8: 125,877,586	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,660,226	I180F	possibly damaging	Het
Pinx1	A	C	14: 63,878,172	N152T	probably benign	Het
Prr14l	T	C	5: 32,830,264	E629G	probably benign	Het
Qpctl	T	A	7: 19,148,420	I104F	probably benign	Het
Rabep1	C	T	11: 70,917,679	A444V	probably damaging	Het
Rnf150	A	G	8: 82,990,554	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,657,730	V152G	probably damaging	Het
Swt1	A	G	1: 151,384,333	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,874,494	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Tmem265	T	G	7: 127,564,872	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,348,332	H551Y	probably benign	Het
Ttc6	T	G	12: 57,702,262	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,937,981	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,871,841	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,304,104	M120K	probably benign	Het
Zfp804b	T	A	5: 6,769,908	I1016F	probably benign	Het
Zfp90	T	C	8: 106,425,394	C580R	probably damaging	Het

Other mutations in Ctdsp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Ctdsp2	APN	10	126993874	missense	probably benign	0.08
IGL02327:Ctdsp2	APN	10	126996382	missense	probably benign	0.26
IGL03283:Ctdsp2	APN	10	126996397	missense	probably benign	0.00
R1463:Ctdsp2	UTSW	10	126993921	splice site	probably benign
R4724:Ctdsp2	UTSW	10	126993069	missense	probably damaging	0.99
R5327:Ctdsp2	UTSW	10	126996054	missense	probably damaging	1.00
R5385:Ctdsp2	UTSW	10	126996457	missense	probably benign
R5994:Ctdsp2	UTSW	10	126995820	unclassified	probably benign
R8558:Ctdsp2	UTSW	10	126993877	missense	probably damaging	1.00
R9002:Ctdsp2	UTSW	10	126996192	missense	probably damaging	1.00
R9563:Ctdsp2	UTSW	10	126996171	missense	probably damaging	1.00
R9564:Ctdsp2	UTSW	10	126996171	missense	probably damaging	1.00
R9565:Ctdsp2	UTSW	10	126996171	missense	probably damaging	1.00
Z1177:Ctdsp2	UTSW	10	126996072	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAACATGGTAGAGCTGTCCATGG -3'
(R):5'- TTGACATAGCAGCCCTGGTG -3'

Sequencing Primer
(F):5'- TCCATGGTGGGGCAGAG -3'
(R):5'- CAAGCCTCTCGGAACAGG -3'

Posted On

2018-03-15