Mutagenetix > Incidental Mutation

Incidental Mutation 'R6436:Ctf2'

518777

Institutional Source

Beutler Lab

Gene Symbol

Ctf2

Ensembl Gene

ENSMUSG00000060034

Gene Name

cardiotrophin 2

Synonyms

neuropoietin, NP, LOC244218

MMRRC Submission

044574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6436 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

127318132-127324788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127318603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 92 (A92E)

Ref Sequence

ENSEMBL: ENSMUSP00000145867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206997]

AlphaFold

P83714

Predicted Effect

probably benign
Transcript: ENSMUST00000047393

SMART Domains

Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340

Domain	Start	End	E-Value	Type
SCOP:d1cnt1_	21	197	1e-60	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076091
AA Change: A132E

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

SMART Domains

Protein: ENSMUSP00000075459
Gene: ENSMUSG00000060034
AA Change: A132E

Domain	Start	End	E-Value	Type
Pfam:CNTF	22	204	1.6e-15	PFAM
Pfam:PRF	31	204	1.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205655

Predicted Effect

probably damaging
Transcript: ENSMUST00000206038
AA Change: A92E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206073

Predicted Effect

probably benign
Transcript: ENSMUST00000206506

Predicted Effect

probably benign
Transcript: ENSMUST00000206997

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	A	15: 74,544,098 (GRCm39)	V42L	possibly damaging	Het
Clip1	C	T	5: 123,779,848 (GRCm39)	E433K	probably damaging	Het
Cmya5	T	C	13: 93,225,723 (GRCm39)	T3122A	probably damaging	Het
Ctsw	G	T	19: 5,516,322 (GRCm39)	R184S	possibly damaging	Het
D130043K22Rik	A	G	13: 25,061,918 (GRCm39)	E629G	probably damaging	Het
Dmbt1	T	C	7: 130,718,370 (GRCm39)	V1523A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fanci	T	C	7: 79,090,446 (GRCm39)	I982T	probably benign	Het
Fnbp1	T	C	2: 30,986,139 (GRCm39)	D3G	probably damaging	Het
Gm10770	G	A	2: 150,020,830 (GRCm39)	T229I	probably benign	Het
Gm35315	G	A	5: 110,226,578 (GRCm39)	T287I	probably benign	Het
Itgb3	T	A	11: 104,524,318 (GRCm39)	D151E	probably damaging	Het
Lcn8	A	T	2: 25,544,990 (GRCm39)		probably null	Het
Ninl	A	G	2: 150,808,098 (GRCm39)	L310P	probably damaging	Het
Nop2	A	G	6: 125,114,274 (GRCm39)	D215G	probably benign	Het
Or4d10c	T	C	19: 12,065,299 (GRCm39)	T286A	probably benign	Het
Or6c3	A	G	10: 129,308,773 (GRCm39)	T71A	probably damaging	Het
Parg	T	C	14: 31,993,634 (GRCm39)	W289R	probably damaging	Het
Pdcd4	A	G	19: 53,915,362 (GRCm39)		probably null	Het
Plk2	G	T	13: 110,532,570 (GRCm39)	E95*	probably null	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Ptprc	T	C	1: 138,011,377 (GRCm39)	D560G	possibly damaging	Het
Rasal3	T	C	17: 32,616,478 (GRCm39)	Y290C	probably damaging	Het
Rcsd1	T	A	1: 165,485,184 (GRCm39)	S90C	probably damaging	Het
Rttn	T	C	18: 89,128,853 (GRCm39)	L1935P	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Homo
Tmc3	T	C	7: 83,247,695 (GRCm39)	Y230H	probably damaging	Het
Tnfrsf25	A	T	4: 152,204,084 (GRCm39)		probably null	Het
Ubl7	T	C	9: 57,827,793 (GRCm39)	L160P	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp646	T	A	7: 127,479,113 (GRCm39)	V430E	probably benign	Het

Other mutations in Ctf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1166:Ctf2	UTSW	7	127,318,685 (GRCm39)	missense	probably benign	0.01
R2417:Ctf2	UTSW	7	127,318,759 (GRCm39)	missense	probably benign	0.01
R4574:Ctf2	UTSW	7	127,318,556 (GRCm39)	missense	possibly damaging	0.83
R4652:Ctf2	UTSW	7	127,318,556 (GRCm39)	missense	probably benign	0.00
R5519:Ctf2	UTSW	7	127,318,463 (GRCm39)	missense	probably benign	0.07
R7161:Ctf2	UTSW	7	127,318,476 (GRCm39)	missense	probably damaging	1.00
Z1176:Ctf2	UTSW	7	127,318,628 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCAGTGACCATATTCTCGGG -3'
(R):5'- GAGGGAAGATGTTCACCCAG -3'

Sequencing Primer
(F):5'- ACCATATTCTCGGGTCACTATGTAG -3'
(R):5'- GGGAAGATGTTCACCCAGACATTC -3'

Posted On

2018-05-24