Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02327:Ctdsp2'

288527

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctdsp2

Ensembl Gene

ENSMUSG00000078429

Gene Name

CTD small phosphatase 2

Synonyms

SCP2, OS4, D10Ertd73e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

IGL02327

Quality Score

Status

Chromosome

Chromosomal Location

126814586-126835844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126832251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 237 (D237N)

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
AA Change: D86N

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100890
Gene: ENSMUSG00000078429
AA Change: D86N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105256
AA Change: D237N

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100891
Gene: ENSMUSG00000078429
AA Change: D237N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd9	A	T	12: 110,943,849 (GRCm39)	C29S	probably damaging	Het
Ccdc66	G	A	14: 27,215,343 (GRCm39)	A399V	probably damaging	Het
Ccl12	A	G	11: 81,993,948 (GRCm39)	I68M	possibly damaging	Het
Cd244a	T	C	1: 171,386,909 (GRCm39)	V6A	probably benign	Het
Cfap97	T	A	8: 46,623,179 (GRCm39)	S190T	probably damaging	Het
Chic2	G	T	5: 75,187,741 (GRCm39)	C106*	probably null	Het
Cyp2a22	A	T	7: 26,634,206 (GRCm39)	M316K	probably damaging	Het
Cyp3a25	A	G	5: 145,923,731 (GRCm39)	F304S	possibly damaging	Het
Ddc	A	T	11: 11,813,739 (GRCm39)	V209D	probably damaging	Het
Dhx16	A	G	17: 36,194,717 (GRCm39)	K446R	probably benign	Het
Fgd3	T	C	13: 49,439,274 (GRCm39)	K241E	probably damaging	Het
Hps1	G	T	19: 42,744,784 (GRCm39)		probably benign	Het
Inpp4b	C	T	8: 82,768,591 (GRCm39)	T700I	probably benign	Het
Kremen2	T	A	17: 23,962,543 (GRCm39)	M157L	probably benign	Het
Lrwd1	T	C	5: 136,152,318 (GRCm39)	Y582C	probably damaging	Het
Macf1	T	A	4: 123,365,523 (GRCm39)	R1514S	probably benign	Het
Mex3c	T	A	18: 73,723,781 (GRCm39)	C625S	probably damaging	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Ncf2	A	T	1: 152,692,744 (GRCm39)	Y87F	possibly damaging	Het
Neo1	T	C	9: 58,810,371 (GRCm39)	T1027A	probably benign	Het
Nfkbib	G	T	7: 28,458,568 (GRCm39)	P347Q	probably benign	Het
Nr1h2	G	A	7: 44,200,924 (GRCm39)		probably benign	Het
Or1e25	A	T	11: 73,493,981 (GRCm39)	T192S	probably damaging	Het
Or2t43	T	A	11: 58,457,761 (GRCm39)	R137W	probably damaging	Het
Or9m2	A	T	2: 87,820,601 (GRCm39)	I49F	probably damaging	Het
Oxct1	A	G	15: 4,066,571 (GRCm39)		probably null	Het
Pak1ip1	T	G	13: 41,165,893 (GRCm39)	N308K	probably benign	Het
Prpf38a	T	C	4: 108,425,607 (GRCm39)	R224G	unknown	Het
Scfd1	T	C	12: 51,436,100 (GRCm39)	V83A	possibly damaging	Het
Tmem131	C	T	1: 36,838,103 (GRCm39)	G1545D	probably damaging	Het
Trav13n-4	A	T	14: 53,601,567 (GRCm39)		probably benign	Het
Ttc3	A	G	16: 94,248,967 (GRCm39)	D1155G	probably damaging	Het
Unc80	G	A	1: 66,680,832 (GRCm39)	V2143I	probably benign	Het
Vmn2r16	T	C	5: 109,487,987 (GRCm39)	Y287H	probably benign	Het
Vmn2r59	A	G	7: 41,661,655 (GRCm39)	V720A	probably benign	Het
Wars1	T	A	12: 108,832,227 (GRCm39)		probably null	Het
Wdcp	A	G	12: 4,901,115 (GRCm39)	K324E	possibly damaging	Het
Wdfy3	A	T	5: 102,036,058 (GRCm39)	L2105H	probably damaging	Het
Xirp2	A	T	2: 67,340,444 (GRCm39)	D895V	probably damaging	Het
Zscan10	A	T	17: 23,826,546 (GRCm39)		probably benign	Het

Other mutations in Ctdsp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Ctdsp2	APN	10	126,829,743 (GRCm39)	missense	probably benign	0.08
IGL03283:Ctdsp2	APN	10	126,832,266 (GRCm39)	missense	probably benign	0.00
R1463:Ctdsp2	UTSW	10	126,829,790 (GRCm39)	splice site	probably benign
R4724:Ctdsp2	UTSW	10	126,828,938 (GRCm39)	missense	probably damaging	0.99
R5327:Ctdsp2	UTSW	10	126,831,923 (GRCm39)	missense	probably damaging	1.00
R5385:Ctdsp2	UTSW	10	126,832,326 (GRCm39)	missense	probably benign
R5994:Ctdsp2	UTSW	10	126,831,689 (GRCm39)	unclassified	probably benign
R6283:Ctdsp2	UTSW	10	126,831,749 (GRCm39)	missense	possibly damaging	0.76
R8558:Ctdsp2	UTSW	10	126,829,746 (GRCm39)	missense	probably damaging	1.00
R9002:Ctdsp2	UTSW	10	126,832,061 (GRCm39)	missense	probably damaging	1.00
R9563:Ctdsp2	UTSW	10	126,832,040 (GRCm39)	missense	probably damaging	1.00
R9564:Ctdsp2	UTSW	10	126,832,040 (GRCm39)	missense	probably damaging	1.00
R9565:Ctdsp2	UTSW	10	126,832,040 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctdsp2	UTSW	10	126,831,941 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16