Mutagenetix > Incidental Mutation

Incidental Mutation 'R9281:Ctdspl2'

703604

Institutional Source

Beutler Lab

Gene Symbol

Ctdspl2

Ensembl Gene

ENSMUSG00000033411

Gene Name

CTD small phosphatase like 2

Synonyms

SCP4, D2Ertd485e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9281 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121786482-121844123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121841063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 451 (H451R)

Ref Sequence

ENSEMBL: ENSMUSP00000047543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036647] [ENSMUST00000110572] [ENSMUST00000110574] [ENSMUST00000110578]

AlphaFold

Q8BG15

Predicted Effect

probably benign
Transcript: ENSMUST00000036647
AA Change: H451R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047543
Gene: ENSMUSG00000033411
AA Change: H451R

Domain	Start	End	E-Value	Type
CPDc	285	429	4.19e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110572
AA Change: H380R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106201
Gene: ENSMUSG00000033411
AA Change: H380R

Domain	Start	End	E-Value	Type
CPDc	214	358	4.19e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110574
AA Change: H451R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106203
Gene: ENSMUSG00000033411
AA Change: H451R

Domain	Start	End	E-Value	Type
CPDc	285	429	4.19e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110578
AA Change: H450R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106207
Gene: ENSMUSG00000033411
AA Change: H450R

Domain	Start	End	E-Value	Type
CPDc	284	428	4.19e-71	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,184 (GRCm39)	I102M	possibly damaging	Het
2700049A03Rik	G	A	12: 71,205,687 (GRCm39)	V444I	possibly damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Ano1	A	T	7: 144,149,318 (GRCm39)	Y848N	probably damaging	Het
Arap2	C	T	5: 62,906,848 (GRCm39)	R57H	probably damaging	Het
Atp10b	C	T	11: 43,116,458 (GRCm39)	T935I	probably benign	Het
Bcl11b	A	G	12: 107,882,257 (GRCm39)	L686P	possibly damaging	Het
Bmp5	T	C	9: 75,683,856 (GRCm39)	V161A	probably benign	Het
C1qtnf3	A	G	15: 10,978,607 (GRCm39)	E196G	probably benign	Het
Cacng8	T	A	7: 3,460,608 (GRCm39)	F130L	probably damaging	Het
Cap1	A	G	4: 122,766,226 (GRCm39)	M4T	probably benign	Het
Ccdc57	T	C	11: 120,751,413 (GRCm39)	K886E	probably benign	Het
Cdhr2	A	C	13: 54,881,703 (GRCm39)	T1112P	possibly damaging	Het
Clcn4	A	T	7: 7,294,813 (GRCm39)	M316K	probably benign	Het
Col22a1	A	T	15: 71,732,920 (GRCm39)	D1099E	unknown	Het
Csmd3	A	C	15: 47,460,272 (GRCm39)	N2595K		Het
Cybrd1	A	T	2: 70,968,735 (GRCm39)	T203S	probably benign	Het
Dhx29	A	G	13: 113,078,240 (GRCm39)	N312S	possibly damaging	Het
Dhx30	A	T	9: 109,929,983 (GRCm39)	S38T	probably benign	Het
Dync2i1	G	A	12: 116,211,677 (GRCm39)	R277*	probably null	Het
Ercc8	G	T	13: 108,320,364 (GRCm39)	A317S	probably benign	Het
Fndc3a	T	C	14: 72,799,097 (GRCm39)	T629A	probably benign	Het
Frmpd1	G	T	4: 45,284,127 (GRCm39)	A983S	probably benign	Het
Gm14325	T	A	2: 177,473,597 (GRCm39)	Y495F	probably damaging	Het
Gm5773	A	T	3: 93,680,891 (GRCm39)	T188S	probably benign	Het
Gpsm1	C	A	2: 26,214,488 (GRCm39)	N243K	probably damaging	Het
Inpp4a	C	G	1: 37,410,850 (GRCm39)	H339Q	probably damaging	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Kdm4a	A	G	4: 117,995,728 (GRCm39)	V1003A	probably damaging	Het
Lrrc25	T	A	8: 71,073,246 (GRCm39)	M276K	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmdc2	G	A	1: 9,994,425 (GRCm39)	G406D	probably damaging	Het
Mfhas1	G	T	8: 36,057,951 (GRCm39)	A809S	probably benign	Het
Mier2	A	T	10: 79,378,294 (GRCm39)	D376E	probably benign	Het
Mllt3	A	C	4: 87,707,566 (GRCm39)	H464Q	probably benign	Het
Mtrex	A	T	13: 113,046,443 (GRCm39)	C302*	probably null	Het
Myo6	T	A	9: 80,162,164 (GRCm39)	Y300*	probably null	Het
Myzap	T	C	9: 71,493,482 (GRCm39)	D31G	unknown	Het
Nfatc1	T	C	18: 80,741,190 (GRCm39)	Y270C	probably damaging	Het
Nsd3	T	C	8: 26,152,961 (GRCm39)	S434P	probably benign	Het
Or13p3	A	G	4: 118,566,592 (GRCm39)		probably benign	Het
Or1e26	T	A	11: 73,480,133 (GRCm39)	M144L	probably benign	Het
Osbp2	T	A	11: 3,813,375 (GRCm39)	T165S	probably benign	Het
Plxna1	A	G	6: 89,300,313 (GRCm39)	V1590A	probably damaging	Het
Pramel7	A	G	2: 87,321,495 (GRCm39)	L180P	probably damaging	Het
Prkd1	C	T	12: 50,536,758 (GRCm39)	D109N	probably benign	Het
Ptger3	A	G	3: 157,273,090 (GRCm39)	M146V	probably benign	Het
Pts	A	G	9: 50,433,853 (GRCm39)	V96A	probably damaging	Het
Rab11fip5	T	C	6: 85,318,834 (GRCm39)	E685G	probably benign	Het
Rab27a	C	T	9: 72,992,278 (GRCm39)	T102I	probably damaging	Het
Reln	A	G	5: 22,153,545 (GRCm39)	L2253P	probably damaging	Het
Rock1	C	T	18: 10,080,479 (GRCm39)	A1022T	probably benign	Het
Rspry1	T	A	8: 95,363,259 (GRCm39)	N259K	probably damaging	Het
Sdha	A	T	13: 74,472,056 (GRCm39)	Y604*	probably null	Het
Slc12a6	A	G	2: 112,164,754 (GRCm39)	N151S	probably benign	Het
Slc26a5	T	A	5: 22,019,051 (GRCm39)	D596V	probably benign	Het
Snrpa	A	G	7: 26,891,051 (GRCm39)	V140A	probably benign	Het
Spta1	T	G	1: 174,047,444 (GRCm39)	V1696G	probably damaging	Het
St13	A	T	15: 81,261,927 (GRCm39)	D179E	probably damaging	Het
Stpg4	T	C	17: 87,702,671 (GRCm39)	D182G	probably benign	Het
Synm	A	T	7: 67,386,048 (GRCm39)	L538*	probably null	Het
Tigar	A	T	6: 127,068,157 (GRCm39)	L87H	probably damaging	Het
Tmem67	C	A	4: 12,079,962 (GRCm39)	V110F	possibly damaging	Het
Trav6n-5	T	A	14: 53,342,744 (GRCm39)	L94*	probably null	Het
Ttf1	A	G	2: 28,955,902 (GRCm39)	H422R	probably benign	Het
Ttn	A	G	2: 76,619,926 (GRCm39)	V15914A	probably damaging	Het
Vmn2r13	C	A	5: 109,303,953 (GRCm39)	C826F	probably damaging	Het
Wwc1	C	G	11: 35,780,211 (GRCm39)	G248A	probably benign	Het
Zfp120	G	A	2: 149,959,615 (GRCm39)	H258Y	probably damaging	Het
Zfp142	A	G	1: 74,607,731 (GRCm39)	Y1681H	probably damaging	Het
Zkscan3	A	G	13: 21,579,045 (GRCm39)	L150P	possibly damaging	Het
Zscan4-ps1	G	T	7: 10,799,589 (GRCm39)	F433L	possibly damaging	Het

Other mutations in Ctdspl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Ctdspl2	APN	2	121,799,767 (GRCm39)	splice site	probably benign
IGL02282:Ctdspl2	APN	2	121,807,959 (GRCm39)	splice site	probably benign
IGL02934:Ctdspl2	APN	2	121,809,490 (GRCm39)	missense	probably damaging	1.00
IGL03100:Ctdspl2	APN	2	121,809,394 (GRCm39)	missense	probably benign	0.27
IGL03285:Ctdspl2	APN	2	121,817,480 (GRCm39)	missense	probably damaging	0.99
R0105:Ctdspl2	UTSW	2	121,807,801 (GRCm39)	splice site	probably benign
R0521:Ctdspl2	UTSW	2	121,837,368 (GRCm39)	nonsense	probably null
R1406:Ctdspl2	UTSW	2	121,837,349 (GRCm39)	missense	probably damaging	1.00
R1406:Ctdspl2	UTSW	2	121,837,349 (GRCm39)	missense	probably damaging	1.00
R1466:Ctdspl2	UTSW	2	121,834,410 (GRCm39)	missense	probably benign	0.40
R1466:Ctdspl2	UTSW	2	121,834,410 (GRCm39)	missense	probably benign	0.40
R1468:Ctdspl2	UTSW	2	121,811,762 (GRCm39)	missense	probably benign
R1468:Ctdspl2	UTSW	2	121,811,762 (GRCm39)	missense	probably benign
R1584:Ctdspl2	UTSW	2	121,834,410 (GRCm39)	missense	probably benign	0.40
R2199:Ctdspl2	UTSW	2	121,817,510 (GRCm39)	critical splice donor site	probably null
R2367:Ctdspl2	UTSW	2	121,817,499 (GRCm39)	missense	probably benign	0.33
R4868:Ctdspl2	UTSW	2	121,823,879 (GRCm39)	missense	possibly damaging	0.61
R5158:Ctdspl2	UTSW	2	121,811,774 (GRCm39)	missense	probably benign	0.22
R5338:Ctdspl2	UTSW	2	121,811,793 (GRCm39)	missense	probably benign	0.15
R5391:Ctdspl2	UTSW	2	121,834,629 (GRCm39)	critical splice donor site	probably null
R5914:Ctdspl2	UTSW	2	121,809,414 (GRCm39)	missense	probably damaging	1.00
R6009:Ctdspl2	UTSW	2	121,819,319 (GRCm39)	missense	probably benign	0.01
R6196:Ctdspl2	UTSW	2	121,809,373 (GRCm39)	splice site	probably null
R6676:Ctdspl2	UTSW	2	121,837,445 (GRCm39)	missense	probably damaging	1.00
R7469:Ctdspl2	UTSW	2	121,837,362 (GRCm39)	missense	possibly damaging	0.66
R8170:Ctdspl2	UTSW	2	121,837,423 (GRCm39)	missense	probably benign	0.08
R9086:Ctdspl2	UTSW	2	121,838,298 (GRCm39)	critical splice donor site	probably null
R9105:Ctdspl2	UTSW	2	121,837,351 (GRCm39)	missense	probably damaging	1.00
X0064:Ctdspl2	UTSW	2	121,834,428 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCTGTCAGACTTCACTGTT -3'
(R):5'- AACCCTTGATTATTATTGGGCAC -3'

Sequencing Primer
(F):5'- CATAGCCCTTTTAGAGTGGACCAG -3'
(R):5'- GCACCAAAGATAAGAAAGCAAGAC -3'

Posted On

2022-03-25