Incidental Mutation 'R1869:Cyfip2'
ID 210574
Institutional Source Beutler Lab
Gene Symbol Cyfip2
Ensembl Gene ENSMUSG00000020340
Gene Name cytoplasmic FMR1 interacting protein 2
Synonyms 6430511D02Rik, Pir121, 1500004I01Rik
MMRRC Submission 039891-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1869 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46084677-46203686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46114995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 904 (Y904F)
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: Y904F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: Y904F

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 probably benign
Transcript: ENSMUST00000093166
AA Change: Y904F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: Y904F

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: Y598F
SMART Domains Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: Y598F

DomainStartEndE-ValueType
Pfam:FragX_IP 58 230 4e-66 PFAM
Pfam:FragX_IP 246 916 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165599
AA Change: Y904F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: Y904F

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
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: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik A G 11: 3,840,067 (GRCm39) L110P probably damaging Het
6030458C11Rik T C 15: 12,817,993 (GRCm39) D168G probably damaging Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abhd11 A G 5: 135,040,471 (GRCm39) Y168C probably damaging Het
Actr5 A C 2: 158,480,643 (GRCm39) T554P probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts16 A G 13: 70,883,866 (GRCm39) L1103P probably damaging Het
Adgrb3 A T 1: 25,865,519 (GRCm39) I108K possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Aoc3 T A 11: 101,222,293 (GRCm39) Y176* probably null Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Ap4b1 T A 3: 103,728,184 (GRCm39) Y399* probably null Het
Arhgef5 A T 6: 43,265,616 (GRCm39) I1553F probably damaging Het
Bag6 T C 17: 35,361,802 (GRCm39) V541A probably benign Het
Bdp1 A C 13: 100,178,709 (GRCm39) V1879G probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Bsnd C T 4: 106,343,833 (GRCm39) V158I probably benign Het
Cachd1 C A 4: 100,840,587 (GRCm39) H880N probably damaging Het
Ccdc27 T C 4: 154,111,220 (GRCm39) probably null Het
Cd74 C T 18: 60,943,484 (GRCm39) P190S probably benign Het
Cep68 A T 11: 20,190,217 (GRCm39) L265Q probably damaging Het
Cfap70 G A 14: 20,458,678 (GRCm39) Q772* probably null Het
CK137956 T A 4: 127,864,327 (GRCm39) S101C possibly damaging Het
Clca3a2 G A 3: 144,512,164 (GRCm39) T524M probably benign Het
Cxcr6 T C 9: 123,639,022 (GRCm39) S15P probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Ddx56 C T 11: 6,213,993 (GRCm39) V389M possibly damaging Het
Dmp1 A T 5: 104,359,942 (GRCm39) D206V probably damaging Het
Dnah17 A T 11: 117,938,015 (GRCm39) C3350* probably null Het
Dst A T 1: 34,291,913 (GRCm39) S877C probably damaging Het
Ermp1 A G 19: 29,623,415 (GRCm39) S192P possibly damaging Het
F13b G A 1: 139,438,672 (GRCm39) D359N probably benign Het
Fam171a1 A T 2: 3,227,189 (GRCm39) Q769L possibly damaging Het
Fap T C 2: 62,359,071 (GRCm39) R411G probably damaging Het
Fbn1 A G 2: 125,193,947 (GRCm39) V1340A probably benign Het
Fbxw19 T C 9: 109,311,100 (GRCm39) I370V probably benign Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Frem2 T G 3: 53,442,617 (GRCm39) D2640A probably benign Het
Fzd4 T C 7: 89,056,454 (GRCm39) V167A probably benign Het
Galnt3 T C 2: 65,928,123 (GRCm39) I258V possibly damaging Het
Galr2 T C 11: 116,174,069 (GRCm39) V233A possibly damaging Het
Gldc G T 19: 30,116,732 (GRCm39) Q407K probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr89 A G 3: 96,782,975 (GRCm39) I325T probably benign Het
Grap T A 11: 61,555,015 (GRCm39) Y61N possibly damaging Het
Hbs1l G T 10: 21,234,305 (GRCm39) probably null Het
Hexb T A 13: 97,327,767 (GRCm39) E134D probably benign Het
Hydin T A 8: 111,227,337 (GRCm39) V1507D possibly damaging Het
Igkv8-16 C A 6: 70,363,971 (GRCm39) G17V probably benign Het
Kdm4a T A 4: 117,996,068 (GRCm39) Q987L probably null Het
Krt76 A G 15: 101,797,922 (GRCm39) probably null Het
Lap3 T C 5: 45,660,729 (GRCm39) S238P probably benign Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Lipn A G 19: 34,058,139 (GRCm39) T287A possibly damaging Het
Macf1 T C 4: 123,244,921 (GRCm39) S466G probably damaging Het
Map3k5 C A 10: 20,007,855 (GRCm39) S1220* probably null Het
Map4 T A 9: 109,897,996 (GRCm39) S754R possibly damaging Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mroh9 A G 1: 162,854,082 (GRCm39) S773P probably damaging Het
Mtus1 A C 8: 41,529,267 (GRCm39) probably null Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Muc13 A T 16: 33,624,970 (GRCm39) I282F probably damaging Het
Mucl3 A G 17: 35,949,305 (GRCm39) L98P possibly damaging Het
Myh14 T A 7: 44,261,067 (GRCm39) Q1816L possibly damaging Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Olfml2b A G 1: 170,496,812 (GRCm39) D481G probably damaging Het
Or13g1 T A 7: 85,955,875 (GRCm39) I149F possibly damaging Het
Or2ag19 T G 7: 106,444,301 (GRCm39) I161S probably benign Het
Or5g23 A G 2: 85,438,844 (GRCm39) S137P probably benign Het
Or8b37 T A 9: 37,959,498 (GRCm39) probably null Het
Or8k3b T A 2: 86,520,735 (GRCm39) I195F probably damaging Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pcnt T C 10: 76,215,740 (GRCm39) E2347G probably null Het
Phax T A 18: 56,706,176 (GRCm39) V22D probably benign Het
Pik3ca T C 3: 32,504,499 (GRCm39) F667S probably damaging Het
Pkd1 T C 17: 24,813,905 (GRCm39) F4123S probably damaging Het
Pkhd1 A G 1: 20,685,491 (GRCm39) probably null Het
Plcb1 G A 2: 135,152,934 (GRCm39) R368K probably benign Het
Prrc2a G T 17: 35,372,284 (GRCm39) R1739S possibly damaging Het
Psg23 A T 7: 18,348,543 (GRCm39) M88K probably benign Het
Pstk T A 7: 130,989,526 (GRCm39) Y354N probably damaging Het
Rab39 A G 9: 53,617,231 (GRCm39) I62T possibly damaging Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rasgrp1 T C 2: 117,120,828 (GRCm39) Y431C probably damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf167 T A 11: 70,540,965 (GRCm39) I197N possibly damaging Het
Rtn1 A G 12: 72,354,942 (GRCm39) S335P probably damaging Het
Ryr2 G T 13: 11,676,961 (GRCm39) R3297S probably damaging Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scgb1b24 T C 7: 33,443,469 (GRCm39) Y43H probably damaging Het
Sh3rf3 T A 10: 58,919,335 (GRCm39) M484K probably damaging Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc1a7 A G 4: 107,865,561 (GRCm39) T350A probably damaging Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slk T C 19: 47,613,891 (GRCm39) F916L probably damaging Het
Snap91 T A 9: 86,672,194 (GRCm39) probably null Het
Snrpb2 A T 2: 142,907,106 (GRCm39) R25S possibly damaging Het
Specc1l T C 10: 75,097,659 (GRCm39) Y811H probably damaging Het
Sprr2h A G 3: 92,293,925 (GRCm39) probably benign Het
Sult2a5 A T 7: 13,358,045 (GRCm39) I26F probably benign Het
Syt13 C T 2: 92,776,448 (GRCm39) T245I possibly damaging Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Telo2 T A 17: 25,333,968 (GRCm39) D93V probably benign Het
Tet2 A T 3: 133,187,202 (GRCm39) probably null Het
Tgm7 A T 2: 120,931,570 (GRCm39) C198S probably damaging Het
Ticrr T C 7: 79,328,883 (GRCm39) F674S probably damaging Het
Tmem129 C A 5: 33,811,843 (GRCm39) C31F probably damaging Het
Tmem132a T A 19: 10,836,052 (GRCm39) D826V possibly damaging Het
Tpd52 T C 3: 9,018,862 (GRCm39) probably null Het
Trub2 A G 2: 29,667,678 (GRCm39) S321P probably benign Het
Ttc29 A G 8: 79,009,014 (GRCm39) T295A probably benign Het
Tubb1 G A 2: 174,298,482 (GRCm39) S89N probably benign Het
Tut4 T A 4: 108,386,497 (GRCm39) F1122L probably damaging Het
Ubap2 C A 4: 41,233,617 (GRCm39) G91V probably damaging Het
Ugt2b35 A G 5: 87,149,147 (GRCm39) N133D probably damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn1r220 A C 13: 23,368,457 (GRCm39) C80G probably damaging Het
Vmn1r79 A G 7: 11,910,574 (GRCm39) E152G probably benign Het
Vmn2r28 T C 7: 5,489,345 (GRCm39) Y498C probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zfp972 A G 2: 177,563,480 (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
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
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'- TCTCCAGGGTGATGCCAATTG -3'
(R):5'- ACTCCAGGACCAGTGTTTTGC -3'

Sequencing Primer
(F):5'- CAGCTAGGTTCAGTTTTCAGCTCAG -3'
(R):5'- CCAGGACCAGTGTTTTGCAAAGG -3'
Posted On 2014-06-30