Incidental Mutation 'R6660:Cyfip2'
ID 526811
Institutional Source Beutler Lab
Gene Symbol Cyfip2
Ensembl Gene ENSMUSG00000020340
Gene Name cytoplasmic FMR1 interacting protein 2
Synonyms 6430511D02Rik, Pir121, 1500004I01Rik
MMRRC Submission 044780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6660 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 46084677-46203686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46140634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 730 (C730R)
Ref Sequence ENSEMBL: ENSMUSP00000127586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]
AlphaFold Q5SQX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000093165
AA Change: C730R

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: C730R

DomainStartEndE-ValueType
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: C730R

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: C730R

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142017
AA Change: C424R
SMART Domains Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: C424R

DomainStartEndE-ValueType
Pfam:FragX_IP 58 230 4e-66 PFAM
Pfam:FragX_IP 246 916 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165599
AA Change: C730R

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: C730R

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 A T 11: 120,237,581 (GRCm39) I289N probably damaging Het
Atg5 A G 10: 44,170,651 (GRCm39) N99S probably benign Het
Ccdc88a A G 11: 29,432,663 (GRCm39) Q1223R probably benign Het
Cdc42 T C 4: 137,056,145 (GRCm39) D122G probably benign Het
Cpxm1 A G 2: 130,238,069 (GRCm39) S127P probably damaging Het
Ddx60 T A 8: 62,409,273 (GRCm39) H436Q probably benign Het
Dnah17 T C 11: 117,991,014 (GRCm39) Y1236C probably benign Het
Ep400 G A 5: 110,867,313 (GRCm39) R1000* probably null Het
Ergic3 A G 2: 155,859,754 (GRCm39) I227V probably damaging Het
Fam227b G T 2: 125,986,227 (GRCm39) P13Q probably damaging Het
Gal A G 19: 3,460,108 (GRCm39) L121P possibly damaging Het
Garin2 T C 12: 78,762,131 (GRCm39) V265A possibly damaging Het
Ifi207 T C 1: 173,556,972 (GRCm39) T589A probably benign Het
Intu T C 3: 40,586,100 (GRCm39) V27A probably benign Het
Lama1 A T 17: 68,111,495 (GRCm39) I2249L probably benign Het
Pdc T C 1: 150,209,086 (GRCm39) Y190H probably damaging Het
Pmm2 T C 16: 8,473,506 (GRCm39) L240P probably damaging Het
Polr1a T C 6: 71,944,358 (GRCm39) V1275A probably damaging Het
Rgsl1 T A 1: 153,701,512 (GRCm39) N314I possibly damaging Het
Rpe65 A T 3: 159,320,345 (GRCm39) N301Y probably damaging Het
Ryr1 A G 7: 28,737,770 (GRCm39) probably null Het
Sh3bp4 A G 1: 89,080,888 (GRCm39) S902G possibly damaging Het
Slc44a4 A T 17: 35,149,201 (GRCm39) R705W probably damaging Het
Slc4a10 A G 2: 62,080,747 (GRCm39) I325V possibly damaging Het
Spns1 A G 7: 125,974,237 (GRCm39) probably null Het
Syt6 T G 3: 103,532,960 (GRCm39) L363R probably damaging Het
Ttn A G 2: 76,544,759 (GRCm39) V32781A probably benign Het
Ube2l6 A G 2: 84,636,852 (GRCm39) T99A probably damaging Het
Unc13b A T 4: 43,177,412 (GRCm39) probably benign Het
Vmn1r189 A T 13: 22,286,066 (GRCm39) L257H possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfpm2 T C 15: 40,518,981 (GRCm39) probably null Het
Other mutations in Cyfip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGCACCCAAGGACACTCAG -3'
(R):5'- ATACTGAGCTTCTGCATCCAG -3'

Sequencing Primer
(F):5'- GACACTCAGTACTGTTTGTAGGACTC -3'
(R):5'- TCTGCATCCAGAAAGAAGCTTG -3'
Posted On 2018-07-23