Mutagenetix > Incidental Mutation

Incidental Mutation 'R1989:Cyfip2'

223059

Institutional Source

Beutler Lab

Gene Symbol

Cyfip2

Ensembl Gene

ENSMUSG00000020340

Gene Name

cytoplasmic FMR1 interacting protein 2

Synonyms

6430511D02Rik, Pir121, 1500004I01Rik

MMRRC Submission

040001-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46084677-46203686 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 46144825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 676 (Y676*)

Ref Sequence

ENSEMBL: ENSMUSP00000127586 (fasta)

Gene Model

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

AlphaFold

Q5SQX6

Predicted Effect

probably null
Transcript: ENSMUST00000093165
AA Change: Y676*

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: Y676*

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 null
Transcript: ENSMUST00000093166
AA Change: Y676*

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: Y676*

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 null
Transcript: ENSMUST00000142017
AA Change: Y370*

SMART Domains

Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: Y370*

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 null
Transcript: ENSMUST00000165599
AA Change: Y676*

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: Y676*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
Acaca	T	C	11: 84,153,355 (GRCm39)	M921T	probably damaging	Het
Actn2	A	T	13: 12,355,276 (GRCm39)	W36R	probably benign	Het
Adcy9	A	T	16: 4,116,591 (GRCm39)	V643D	probably damaging	Het
Agbl4	A	T	4: 111,423,879 (GRCm39)	T302S	possibly damaging	Het
Akap13	A	G	7: 75,354,264 (GRCm39)	N1795S	probably benign	Het
Ang	T	A	14: 51,339,008 (GRCm39)	C50S	probably damaging	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Asxl3	T	C	18: 22,585,420 (GRCm39)	V115A	probably damaging	Het
B4galt5	A	T	2: 167,146,923 (GRCm39)	W304R	probably damaging	Het
Bptf	T	C	11: 106,965,652 (GRCm39)	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,611,386 (GRCm39)	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,568,970 (GRCm39)	I881F	probably damaging	Het
Ccn1	A	T	3: 145,353,498 (GRCm39)	Y355N	probably benign	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cyp2f2	A	G	7: 26,828,628 (GRCm39)	D90G	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
E2f8	T	C	7: 48,523,028 (GRCm39)	E349G	probably benign	Het
Ebf1	T	C	11: 44,512,793 (GRCm39)	M134T	probably damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Focad	T	C	4: 88,151,021 (GRCm39)		probably null	Het
Gabra1	A	T	11: 42,045,842 (GRCm39)	D89E	probably damaging	Het
Hip1r	G	T	5: 124,127,761 (GRCm39)	V90F	probably damaging	Het
Ifi213	C	A	1: 173,396,374 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,716 (GRCm39)	I136T	probably benign	Het
Kmt2c	A	G	5: 25,703,542 (GRCm39)	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,931,432 (GRCm39)	S43L	probably damaging	Het
Macf1	A	G	4: 123,391,519 (GRCm39)		probably null	Het
Mad1l1	A	G	5: 140,289,425 (GRCm39)	S167P	probably benign	Het
Maml3	G	T	3: 51,605,179 (GRCm39)	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,214,020 (GRCm39)	M1T	probably null	Het
Mkrn2os	G	T	6: 115,566,311 (GRCm39)	T88K	probably damaging	Het
Mob3c	T	C	4: 115,688,754 (GRCm39)	Y96H	probably damaging	Het
Mpo	T	A	11: 87,694,298 (GRCm39)	I96N	probably damaging	Het
Mup17	T	A	4: 61,511,860 (GRCm39)	Y138F	probably benign	Het
Myh8	A	G	11: 67,183,550 (GRCm39)	I754V	probably benign	Het
Naa30	T	A	14: 49,415,597 (GRCm39)	L289*	probably null	Het
Nap1l4	A	C	7: 143,080,921 (GRCm39)	F292V	probably damaging	Het
Nek5	T	A	8: 22,601,185 (GRCm39)	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,273,338 (GRCm39)	E880G	probably benign	Het
Nsun6	G	T	2: 15,042,995 (GRCm39)	N155K	probably benign	Het
Or2aj5	A	T	16: 19,425,407 (GRCm39)	Y4N	probably benign	Het
Or4c102	T	A	2: 88,422,943 (GRCm39)	I265K	probably damaging	Het
Or4f62	T	A	2: 111,986,722 (GRCm39)	I142N	probably benign	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8d23	T	C	9: 38,842,171 (GRCm39)	S235P	possibly damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,995,025 (GRCm39)	V559M	probably benign	Het
Ptgfr	A	T	3: 151,540,976 (GRCm39)	Y177*	probably null	Het
Rnase10	A	T	14: 51,247,095 (GRCm39)	I121L	probably benign	Het
Sall2	G	A	14: 52,551,896 (GRCm39)	P431L	probably damaging	Het
Sbf2	A	G	7: 109,948,130 (GRCm39)	V1194A	possibly damaging	Het
Scimp	T	C	11: 70,682,402 (GRCm39)	K105E	possibly damaging	Het
Scrt2	A	T	2: 151,924,007 (GRCm39)	D13V	probably damaging	Het
Snx19	A	G	9: 30,339,404 (GRCm39)	S181G	possibly damaging	Het
Spata2	G	A	2: 167,326,234 (GRCm39)	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srpk2	G	A	5: 23,723,421 (GRCm39)	A565V	probably damaging	Het
Stard9	A	G	2: 120,531,887 (GRCm39)	I2715V	probably benign	Het
Sval1	A	G	6: 41,932,425 (GRCm39)	T92A	possibly damaging	Het
Synrg	T	C	11: 83,910,781 (GRCm39)		probably null	Het
Tlr12	T	C	4: 128,510,862 (GRCm39)	T463A	probably benign	Het
Tnxb	A	G	17: 34,902,351 (GRCm39)	H945R	probably benign	Het
Tnxb	A	T	17: 34,912,859 (GRCm39)	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,579,190 (GRCm39)	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,978,708 (GRCm39)	V796A	probably benign	Het
Trpm1	A	T	7: 63,858,780 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ttn	T	A	2: 76,581,285 (GRCm39)	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,601,131 (GRCm39)	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,258,216 (GRCm39)	N258S	probably damaging	Het
Upk1b	A	T	16: 38,604,603 (GRCm39)	W141R	possibly damaging	Het
Vars1	T	C	17: 35,230,814 (GRCm39)	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,815,788 (GRCm39)	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,614,500 (GRCm39)	F363L	probably damaging	Het
Vmn2r66	A	T	7: 84,661,201 (GRCm39)	F10I	probably benign	Het
Wbp2	C	T	11: 115,971,047 (GRCm39)		probably null	Het
Yy1	T	C	12: 108,772,534 (GRCm39)	L270P	probably damaging	Het
Zan	A	T	5: 137,418,268 (GRCm39)	C2943*	probably null	Het
Zfp51	T	A	17: 21,676,582 (GRCm39)	Y18N	possibly 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
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
R8794:Cyfip2	UTSW	11	46,144,800 (GRCm39)	missense	possibly damaging	0.91
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'- CCAGCAATCATGAATTTTGTTCCC -3'
(R):5'- GGGTCCATCAGCATCATTGATTC -3'

Sequencing Primer
(F):5'- CTGGATAAGTGCCTCTGACAC -3'
(R):5'- CTGTGTGCAAATTTGAAAGCAAG -3'

Posted On

2014-08-25