Mutagenetix > Incidental Mutation

Incidental Mutation 'R2417:Ctf2'

249037

Institutional Source

Beutler Lab

Gene Symbol

Ctf2

Ensembl Gene

ENSMUSG00000060034

Gene Name

cardiotrophin 2

Synonyms

neuropoietin, NP, LOC244218

Accession Numbers

Essential gene?

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

Stock #

R2417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127318132-127324788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127318759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000075459 (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 benign
Transcript: ENSMUST00000076091
AA Change: V80A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000075459
Gene: ENSMUSG00000060034
AA Change: V80A

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 benign
Transcript: ENSMUST00000206038
AA Change: V40A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206073

Predicted Effect

probably benign
Transcript: ENSMUST00000206506

Predicted Effect

probably benign
Transcript: ENSMUST00000206997

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	A	17: 41,191,101 (GRCm39)	K109N	probably benign	Het
Adcy3	T	C	12: 4,258,627 (GRCm39)	V848A	probably benign	Het
Ahnak2	G	A	12: 112,741,805 (GRCm39)	P756S	probably damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Arhgef38	T	C	3: 132,852,234 (GRCm39)	K319E	probably damaging	Het
Bbs7	C	T	3: 36,646,546 (GRCm39)	A425T	probably damaging	Het
Cacna1e	T	A	1: 154,347,939 (GRCm39)	R879W	probably damaging	Het
Cfap65	GTCTT	GTCTTCTT	1: 74,966,345 (GRCm39)		probably benign	Het
Cpsf7	T	C	19: 10,503,332 (GRCm39)		probably benign	Het
Ddhd1	A	G	14: 45,894,729 (GRCm39)	L30P	probably damaging	Het
Eml1	A	G	12: 108,502,534 (GRCm39)	D700G	probably benign	Het
Epha7	C	T	4: 28,947,579 (GRCm39)	P613L	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Itih3	G	A	14: 30,639,621 (GRCm39)	T400I	probably benign	Het
Lrrc14	T	A	15: 76,597,621 (GRCm39)	L117Q	probably damaging	Het
Ncbp1	C	T	4: 46,168,530 (GRCm39)	S626L	probably benign	Het
Nefh	C	T	11: 4,889,479 (GRCm39)	D1047N	unknown	Het
Ptprm	T	G	17: 67,251,321 (GRCm39)	T519P	probably damaging	Het
Sorl1	T	G	9: 41,892,007 (GRCm39)	D1881A	probably damaging	Het
Sox12	T	C	2: 152,238,717 (GRCm39)	D301G	possibly damaging	Het
Vmn2r14	C	T	5: 109,372,329 (GRCm39)	E54K	probably benign	Het
Vmn2r26	A	G	6: 124,038,309 (GRCm39)	N628S	probably damaging	Het
Zfp143	G	A	7: 109,668,803 (GRCm39)	V36M	possibly damaging	Het
Zfp850	A	T	7: 27,688,608 (GRCm39)	N533K	possibly damaging	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
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
R6436:Ctf2	UTSW	7	127,318,603 (GRCm39)	missense	probably damaging	1.00
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'- ATAGCAGCCATGTTGCCCAAG -3'
(R):5'- ACCTGTGCAGCATCTGAAG -3'

Sequencing Primer
(F):5'- TAGGACTGCCAGGATTCA -3'
(R):5'- GTGAATGGTAGCTTCCTCTGGGAC -3'

Posted On

2014-11-12