Mutagenetix > Incidental Mutation

Incidental Mutation 'R6511:Cyfip2'

519923

Institutional Source

Beutler Lab

Gene Symbol

Cyfip2

Ensembl Gene

ENSMUSG00000020340

Gene Name

cytoplasmic FMR1 interacting protein 2

Synonyms

1500004I01Rik, Pir121, 6430511D02Rik

MMRRC Submission

044639-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46193850-46312859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46196308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1252 (T1252A)

Ref Sequence

ENSEMBL: ENSMUSP00000127586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]

AlphaFold

Q5SQX6

Predicted Effect

probably benign
Transcript: ENSMUST00000093165
AA Change: T1252A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: T1252A

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:DUF1394	59	303	5.4e-12	PFAM
Pfam:FragX_IP	388	1221	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093166
AA Change: T1252A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: T1252A

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142017
AA Change: T946A

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

SMART Domains

Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: T946A

Domain	Start	End	E-Value	Type
Pfam:FragX_IP	58	230	4e-66	PFAM
Pfam:FragX_IP	246	916	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165599
AA Change: T1252A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: T1252A

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Meta Mutation Damage Score

0.1690

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Mice homozygous for knock-out allele exhibit complete neonatal lethality. Mice homozygous for a dominant spontaneous mutation exhibit impaired behavioral response to cocaine, fewer dendritic spines and reduced miniature excitatory postsynaptic current frequency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,376,594	H718Y	probably damaging	Het
Abcc8	G	A	7: 46,150,861	T499I	possibly damaging	Het
Azin2	C	A	4: 128,934,466	R316L	probably damaging	Het
Cep85l	C	T	10: 53,278,092	V702I	probably benign	Het
Cfap69	A	T	5: 5,617,220	C442S	probably damaging	Het
Commd3	G	A	2: 18,674,839	G148R	probably benign	Het
Cyp4a30b	A	T	4: 115,456,708	D162V	probably damaging	Het
Exoc3l	G	T	8: 105,293,255	T346K	probably benign	Het
Gas8	T	C	8: 123,524,157	V123A	probably benign	Het
Gm8890	A	G	5: 11,257,308	Y51C	probably benign	Het
Hmcn2	T	G	2: 31,356,342	D774E	possibly damaging	Het
Itga1	G	T	13: 114,992,501	S540R	probably damaging	Het
Itpr2	T	C	6: 146,329,727	N1145S	probably damaging	Het
Kcnc2	C	T	10: 112,462,067		probably benign	Het
Lrp5	G	A	19: 3,652,296	R174W	probably damaging	Het
Lrrn4	T	G	2: 132,870,326	S526R	probably benign	Het
Map3k6	G	A	4: 133,248,078	R708H	probably damaging	Het
Mefv	T	C	16: 3,715,946	T154A	probably benign	Het
Mkl2	T	A	16: 13,379,850	S66R	probably damaging	Het
Mtif2	G	T	11: 29,536,949	A320S	possibly damaging	Het
Nos2	A	G	11: 78,955,464		probably null	Het
Olfr1006	A	G	2: 85,674,840	S104P	possibly damaging	Het
Olfr725	A	G	14: 50,034,809	L198P	probably damaging	Het
Pip5k1c	T	C	10: 81,310,817	Y44H	probably damaging	Het
Ppp1r13b	T	C	12: 111,831,567	E972G	probably damaging	Het
Prdm12	T	C	2: 31,640,309	S71P	probably damaging	Het
Prkag2	G	T	5: 25,100,288		probably benign	Het
Ptprb	T	C	10: 116,346,820	L1467P	probably damaging	Het
Rnf43	G	A	11: 87,732,163	V697I	probably benign	Het
Rpl7	C	A	1: 16,103,665	A12S	probably benign	Het
Slc25a54	T	G	3: 109,094,256	I120S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,788	H370R	probably damaging	Het
Sv2c	C	T	13: 96,048,525	V215I	probably benign	Het
Synpo2l	T	C	14: 20,662,450	E34G	probably damaging	Het
Tubgcp5	T	A	7: 55,817,392	C703*	probably null	Het
Vmn1r158	T	C	7: 22,790,691	K31R	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp2	A	T	11: 50,900,407	C270S	probably damaging	Het

Other mutations in Cyfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Cyfip2	APN	11	46200685	missense	possibly damaging	0.74
IGL01352:Cyfip2	APN	11	46265996	missense	probably benign	0.01
IGL01685:Cyfip2	APN	11	46207488	splice site	probably benign
IGL02367:Cyfip2	APN	11	46276905	nonsense	probably null
IGL02390:Cyfip2	APN	11	46221398	missense	possibly damaging	0.58
IGL02471:Cyfip2	APN	11	46200803	missense	possibly damaging	0.58
IGL02583:Cyfip2	APN	11	46249758	missense	possibly damaging	0.56
IGL03199:Cyfip2	APN	11	46276843	missense	probably benign	0.07
aggregate	UTSW	11	46224136	missense	probably benign
assunder	UTSW	11	46196308	missense	probably benign	0.00
fragmentary	UTSW	11	46198996	missense	probably benign	0.01
IGL02835:Cyfip2	UTSW	11	46249771	missense	probably benign	0.00
R0081:Cyfip2	UTSW	11	46253998	nonsense	probably null
R0288:Cyfip2	UTSW	11	46253972	missense	possibly damaging	0.94
R1830:Cyfip2	UTSW	11	46199019	missense	probably damaging	1.00
R1869:Cyfip2	UTSW	11	46224168	missense	probably benign	0.40
R1989:Cyfip2	UTSW	11	46253998	nonsense	probably null
R2045:Cyfip2	UTSW	11	46249789	missense	probably benign	0.00
R2101:Cyfip2	UTSW	11	46242443	missense	probably damaging	1.00
R2131:Cyfip2	UTSW	11	46286131	missense	possibly damaging	0.78
R2162:Cyfip2	UTSW	11	46261506	missense	probably benign	0.03
R2299:Cyfip2	UTSW	11	46286131	missense	probably benign	0.02
R3831:Cyfip2	UTSW	11	46261506	missense	probably benign	0.03
R3832:Cyfip2	UTSW	11	46261506	missense	probably benign	0.03
R3833:Cyfip2	UTSW	11	46261506	missense	probably benign	0.03
R3881:Cyfip2	UTSW	11	46208335	missense	probably damaging	1.00
R4127:Cyfip2	UTSW	11	46270647	missense	probably benign	0.00
R4385:Cyfip2	UTSW	11	46242403	missense	probably benign	0.05
R4617:Cyfip2	UTSW	11	46254018	missense	probably damaging	1.00
R4739:Cyfip2	UTSW	11	46279993	missense	probably damaging	0.99
R5232:Cyfip2	UTSW	11	46242378	missense	probably damaging	1.00
R5365:Cyfip2	UTSW	11	46247630	missense	probably damaging	0.99
R5383:Cyfip2	UTSW	11	46278091	missense	possibly damaging	0.83
R5447:Cyfip2	UTSW	11	46291586	missense	possibly damaging	0.72
R5450:Cyfip2	UTSW	11	46284252	missense	probably benign	0.00
R5796:Cyfip2	UTSW	11	46198996	missense	probably benign	0.01
R5820:Cyfip2	UTSW	11	46200704	missense	probably damaging	1.00
R5925:Cyfip2	UTSW	11	46207436	missense	probably damaging	1.00
R6143:Cyfip2	UTSW	11	46253965	nonsense	probably null
R6321:Cyfip2	UTSW	11	46291520	missense	probably benign	0.01
R6502:Cyfip2	UTSW	11	46221346	missense	probably damaging	1.00
R6521:Cyfip2	UTSW	11	46254588	missense	probably damaging	1.00
R6660:Cyfip2	UTSW	11	46249807	missense	possibly damaging	0.89
R6836:Cyfip2	UTSW	11	46272640	missense	probably benign	0.16
R6866:Cyfip2	UTSW	11	46242459	nonsense	probably null
R7062:Cyfip2	UTSW	11	46260832	missense	probably damaging	1.00
R7192:Cyfip2	UTSW	11	46254666	missense	probably benign	0.21
R7231:Cyfip2	UTSW	11	46224136	missense	probably benign
R7258:Cyfip2	UTSW	11	46224177	missense	probably benign	0.02
R7365:Cyfip2	UTSW	11	46207440	nonsense	probably null
R7441:Cyfip2	UTSW	11	46196427	missense	possibly damaging	0.80
R7561:Cyfip2	UTSW	11	46270598	missense	probably benign	0.00
R7831:Cyfip2	UTSW	11	46196446	missense	probably damaging	1.00
R7871:Cyfip2	UTSW	11	46242350	missense	probably damaging	1.00
R8794:Cyfip2	UTSW	11	46253973	missense	possibly damaging	0.91
R9180:Cyfip2	UTSW	11	46286093	missense	probably damaging	1.00
R9195:Cyfip2	UTSW	11	46270628	missense	probably damaging	1.00
R9312:Cyfip2	UTSW	11	46276882	missense	possibly damaging	0.95
R9439:Cyfip2	UTSW	11	46200841	missense	probably damaging	0.99
R9563:Cyfip2	UTSW	11	46260880	missense	probably benign	0.12
R9722:Cyfip2	UTSW	11	46196308	missense	probably benign	0.00
Z1176:Cyfip2	UTSW	11	46222615	missense	not run
Z1177:Cyfip2	UTSW	11	46222615	missense	not run

Predicted Primers

PCR Primer
(F):5'- TATCATGGGAGGAACATGCG -3'
(R):5'- TGTCAGGAATCTGGACTGCAG -3'

Sequencing Primer
(F):5'- CGGGAGCCCAGCCCTTG -3'
(R):5'- AATCTGGACTGCAGCCCCC -3'

Posted On

2018-06-06