Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Cyfip2'

671128

Institutional Source

Beutler Lab

Gene Symbol

Cyfip2

Ensembl Gene

ENSMUSG00000020340

Gene Name

cytoplasmic FMR1 interacting protein 2

Synonyms

6430511D02Rik, Pir121, 1500004I01Rik

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46084677-46203686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46144800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 685 (F685L)

Ref Sequence

ENSEMBL: ENSMUSP00000090853 (fasta)

Gene Model

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

AlphaFold

Q5SQX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093165
AA Change: F685L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: F685L

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

possibly damaging
Transcript: ENSMUST00000093166
AA Change: F685L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: F685L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: F379L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165599
AA Change: F685L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: F685L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,939 (GRCm39)	V498D	unknown	Het
Actn1	C	T	12: 80,245,754 (GRCm39)		probably benign	Het
Actrt2	T	C	4: 154,751,176 (GRCm39)	E320G	probably damaging	Het
Adamts7	C	T	9: 90,076,239 (GRCm39)	Q1265*	probably null	Het
Adra1a	A	G	14: 66,875,064 (GRCm39)	N13S	probably benign	Het
Alpk3	G	T	7: 80,707,403 (GRCm39)	R9L	unknown	Het
Ankrd42	A	G	7: 92,263,674 (GRCm39)	F225L	probably benign	Het
C3	T	C	17: 57,528,011 (GRCm39)	E736G	probably benign	Het
Ccng1	A	G	11: 40,644,826 (GRCm39)	S24P	probably benign	Het
Cdc42bpa	A	T	1: 179,894,816 (GRCm39)	N332I	probably damaging	Het
Cep131	G	A	11: 119,972,074 (GRCm39)	P90S	probably benign	Het
Chd8	A	G	14: 52,441,904 (GRCm39)	S2154P	probably damaging	Het
Cilp	A	G	9: 65,186,535 (GRCm39)	S877G	probably benign	Het
Clic6	T	A	16: 92,324,987 (GRCm39)	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,006,773 (GRCm39)	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,145,225 (GRCm39)	I309T	probably benign	Het
Cux2	T	C	5: 122,007,306 (GRCm39)	E785G	probably benign	Het
Epha6	T	C	16: 60,026,035 (GRCm39)	D469G	probably benign	Het
Erc1	A	T	6: 119,607,616 (GRCm39)	V962E	probably damaging	Het
Esrrb	A	T	12: 86,517,038 (GRCm39)	S57C	probably damaging	Het
Fam169a	A	G	13: 97,250,628 (GRCm39)	T320A	possibly damaging	Het
Farsb	C	T	1: 78,401,678 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,338,907 (GRCm39)	V400A	probably damaging	Het
Frem3	A	T	8: 81,342,851 (GRCm39)	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632 (GRCm39)	T786A	probably benign	Het
Gapvd1	A	T	2: 34,594,330 (GRCm39)	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077 (GRCm39)	S737P	probably damaging	Het
Gm525	A	G	11: 88,979,479 (GRCm39)	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,465,091 (GRCm39)	D175V	probably benign	Het
Heatr5b	T	C	17: 79,123,015 (GRCm39)	I655V	probably benign	Het
Hmcn1	G	A	1: 150,591,469 (GRCm39)	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ier2	A	T	8: 85,389,096 (GRCm39)	D95E	probably damaging	Het
Ifi208	A	G	1: 173,523,370 (GRCm39)	R547G	possibly damaging	Het
Itih3	T	A	14: 30,634,854 (GRCm39)	S639C	possibly damaging	Het
Kif19b	A	G	5: 140,461,785 (GRCm39)	E529G	probably damaging	Het
Marchf7	G	A	2: 60,074,015 (GRCm39)		probably null	Het
Mep1b	A	C	18: 21,224,325 (GRCm39)	T373P	probably damaging	Het
Mlh3	G	A	12: 85,282,497 (GRCm39)	P1379S	probably damaging	Het
Nav3	T	A	10: 109,605,032 (GRCm39)	K1014*	probably null	Het
Nme1	A	T	11: 93,851,658 (GRCm39)	F78I	probably benign	Het
Nos3	T	A	5: 24,576,745 (GRCm39)	V458D	probably damaging	Het
Noxa1	A	G	2: 24,984,852 (GRCm39)	F29L	probably benign	Het
Nrcam	G	A	12: 44,624,958 (GRCm39)	G1055D	probably benign	Het
Nutf2	A	T	8: 106,602,171 (GRCm39)		probably benign	Het
Oog3	A	G	4: 143,884,556 (GRCm39)	I460T	probably benign	Het
Or4b1b	A	T	2: 90,112,150 (GRCm39)	Y256*	probably null	Het
Or4c113	T	C	2: 88,885,477 (GRCm39)	M98V	probably benign	Het
Or5p78	A	T	7: 108,211,580 (GRCm39)	D22V	probably benign	Het
Or7e175	A	T	9: 20,048,630 (GRCm39)	M73L	possibly damaging	Het
Pde2a	A	T	7: 101,155,136 (GRCm39)	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,475,209 (GRCm39)	Q61*	probably null	Het
Pdpr	A	G	8: 111,852,240 (GRCm39)	T536A	possibly damaging	Het
Pias4	T	A	10: 80,999,846 (GRCm39)	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787 (GRCm39)	D188E	possibly damaging	Het
Pik3r2	A	G	8: 71,224,007 (GRCm39)	V270A	probably benign	Het
Plod2	T	A	9: 92,482,801 (GRCm39)	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,961,832 (GRCm39)	V450A	probably benign	Het
Poln	G	A	5: 34,286,871 (GRCm39)	T99I	possibly damaging	Het
Prg2	A	G	2: 84,812,404 (GRCm39)	D38G	possibly damaging	Het
Psmd7	A	C	8: 108,310,831 (GRCm39)	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Ranbp2	T	A	10: 58,328,414 (GRCm39)	V2810E	probably damaging	Het
Rgma	A	T	7: 73,067,648 (GRCm39)	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,246,814 (GRCm39)	T25A	probably damaging	Het
Serpinb6e	T	C	13: 34,024,977 (GRCm39)	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,513,396 (GRCm39)	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,613,843 (GRCm39)	T80S	probably benign	Het
Skint6	A	T	4: 113,049,869 (GRCm39)	S265R	possibly damaging	Het
Slc23a2	A	T	2: 131,902,629 (GRCm39)	F524L	probably benign	Het
Slc2a13	C	A	15: 91,234,302 (GRCm39)	G345C	probably damaging	Het
Sp110	A	G	1: 85,511,231 (GRCm39)		probably null	Het
Srcin1	A	G	11: 97,439,803 (GRCm39)	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,560,118 (GRCm39)	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,090,553 (GRCm39)	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,486,680 (GRCm39)	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,765,114 (GRCm39)	Q32L	probably benign	Het
Trav16n	A	C	14: 53,588,867 (GRCm39)	T48P	probably damaging	Het
Ufc1	A	G	1: 171,117,095 (GRCm39)	Y110H	probably damaging	Het
Wars2	A	G	3: 99,123,888 (GRCm39)	K250E	probably damaging	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Xirp2	A	T	2: 67,341,557 (GRCm39)	E1266V	probably damaging	Het
Zfp423	A	C	8: 88,507,857 (GRCm39)	L829R	probably damaging	Het
Zfp735	A	G	11: 73,603,029 (GRCm39)	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,547,847 (GRCm39)	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,662,687 (GRCm39)	M389K	probably damaging	Het

Other mutations in Cyfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Cyfip2	APN	11	46,091,512 (GRCm39)	missense	possibly damaging	0.74
IGL01352:Cyfip2	APN	11	46,156,823 (GRCm39)	missense	probably benign	0.01
IGL01685:Cyfip2	APN	11	46,098,315 (GRCm39)	splice site	probably benign
IGL02367:Cyfip2	APN	11	46,167,732 (GRCm39)	nonsense	probably null
IGL02390:Cyfip2	APN	11	46,112,225 (GRCm39)	missense	possibly damaging	0.58
IGL02471:Cyfip2	APN	11	46,091,630 (GRCm39)	missense	possibly damaging	0.58
IGL02583:Cyfip2	APN	11	46,140,585 (GRCm39)	missense	possibly damaging	0.56
IGL03199:Cyfip2	APN	11	46,167,670 (GRCm39)	missense	probably benign	0.07
aggregate	UTSW	11	46,114,963 (GRCm39)	missense	probably benign
assunder	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
fragmentary	UTSW	11	46,089,823 (GRCm39)	missense	probably benign	0.01
IGL02835:Cyfip2	UTSW	11	46,140,598 (GRCm39)	missense	probably benign	0.00
R0081:Cyfip2	UTSW	11	46,144,825 (GRCm39)	nonsense	probably null
R0288:Cyfip2	UTSW	11	46,144,799 (GRCm39)	missense	possibly damaging	0.94
R1830:Cyfip2	UTSW	11	46,089,846 (GRCm39)	missense	probably damaging	1.00
R1869:Cyfip2	UTSW	11	46,114,995 (GRCm39)	missense	probably benign	0.40
R1989:Cyfip2	UTSW	11	46,144,825 (GRCm39)	nonsense	probably null
R2045:Cyfip2	UTSW	11	46,140,616 (GRCm39)	missense	probably benign	0.00
R2101:Cyfip2	UTSW	11	46,133,270 (GRCm39)	missense	probably damaging	1.00
R2131:Cyfip2	UTSW	11	46,176,958 (GRCm39)	missense	possibly damaging	0.78
R2162:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R2299:Cyfip2	UTSW	11	46,176,958 (GRCm39)	missense	probably benign	0.02
R3831:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3832:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3833:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3881:Cyfip2	UTSW	11	46,099,162 (GRCm39)	missense	probably damaging	1.00
R4127:Cyfip2	UTSW	11	46,161,474 (GRCm39)	missense	probably benign	0.00
R4385:Cyfip2	UTSW	11	46,133,230 (GRCm39)	missense	probably benign	0.05
R4617:Cyfip2	UTSW	11	46,144,845 (GRCm39)	missense	probably damaging	1.00
R4739:Cyfip2	UTSW	11	46,170,820 (GRCm39)	missense	probably damaging	0.99
R5232:Cyfip2	UTSW	11	46,133,205 (GRCm39)	missense	probably damaging	1.00
R5365:Cyfip2	UTSW	11	46,138,457 (GRCm39)	missense	probably damaging	0.99
R5383:Cyfip2	UTSW	11	46,168,918 (GRCm39)	missense	possibly damaging	0.83
R5447:Cyfip2	UTSW	11	46,182,413 (GRCm39)	missense	possibly damaging	0.72
R5450:Cyfip2	UTSW	11	46,175,079 (GRCm39)	missense	probably benign	0.00
R5796:Cyfip2	UTSW	11	46,089,823 (GRCm39)	missense	probably benign	0.01
R5820:Cyfip2	UTSW	11	46,091,531 (GRCm39)	missense	probably damaging	1.00
R5925:Cyfip2	UTSW	11	46,098,263 (GRCm39)	missense	probably damaging	1.00
R6143:Cyfip2	UTSW	11	46,144,792 (GRCm39)	nonsense	probably null
R6321:Cyfip2	UTSW	11	46,182,347 (GRCm39)	missense	probably benign	0.01
R6502:Cyfip2	UTSW	11	46,112,173 (GRCm39)	missense	probably damaging	1.00
R6511:Cyfip2	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
R6521:Cyfip2	UTSW	11	46,145,415 (GRCm39)	missense	probably damaging	1.00
R6660:Cyfip2	UTSW	11	46,140,634 (GRCm39)	missense	possibly damaging	0.89
R6836:Cyfip2	UTSW	11	46,163,467 (GRCm39)	missense	probably benign	0.16
R6866:Cyfip2	UTSW	11	46,133,286 (GRCm39)	nonsense	probably null
R7062:Cyfip2	UTSW	11	46,151,659 (GRCm39)	missense	probably damaging	1.00
R7192:Cyfip2	UTSW	11	46,145,493 (GRCm39)	missense	probably benign	0.21
R7231:Cyfip2	UTSW	11	46,114,963 (GRCm39)	missense	probably benign
R7258:Cyfip2	UTSW	11	46,115,004 (GRCm39)	missense	probably benign	0.02
R7365:Cyfip2	UTSW	11	46,098,267 (GRCm39)	nonsense	probably null
R7441:Cyfip2	UTSW	11	46,087,254 (GRCm39)	missense	possibly damaging	0.80
R7561:Cyfip2	UTSW	11	46,161,425 (GRCm39)	missense	probably benign	0.00
R7831:Cyfip2	UTSW	11	46,087,273 (GRCm39)	missense	probably damaging	1.00
R7871:Cyfip2	UTSW	11	46,133,177 (GRCm39)	missense	probably damaging	1.00
R9180:Cyfip2	UTSW	11	46,176,920 (GRCm39)	missense	probably damaging	1.00
R9195:Cyfip2	UTSW	11	46,161,455 (GRCm39)	missense	probably damaging	1.00
R9312:Cyfip2	UTSW	11	46,167,709 (GRCm39)	missense	possibly damaging	0.95
R9439:Cyfip2	UTSW	11	46,091,668 (GRCm39)	missense	probably damaging	0.99
R9563:Cyfip2	UTSW	11	46,151,707 (GRCm39)	missense	probably benign	0.12
R9722:Cyfip2	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
Z1176:Cyfip2	UTSW	11	46,113,442 (GRCm39)	missense	not run
Z1177:Cyfip2	UTSW	11	46,113,442 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTGAAGCCCCTCATGGTGTAG -3'
(R):5'- GGAGGGAGCTTGTCTTCAACTC -3'

Sequencing Primer
(F):5'- CTCATGGTGTAGCCCAGACAAG -3'
(R):5'- GTCTTCAACTCCAAGCCATCTG -3'

Posted On

2021-04-30