Incidental Mutation 'R7365:Cyfip2'
ID 571733
Institutional Source Beutler Lab
Gene Symbol Cyfip2
Ensembl Gene ENSMUSG00000020340
Gene Name cytoplasmic FMR1 interacting protein 2
Synonyms 6430511D02Rik, Pir121, 1500004I01Rik
MMRRC Submission 045449-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7365 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 46084677-46203686 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 46098267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1052 (K1052*)
Ref Sequence ENSEMBL: ENSMUSP00000090853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]
AlphaFold Q5SQX6
Predicted Effect probably null
Transcript: ENSMUST00000093165
AA Change: K1052*
SMART Domains Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: K1052*

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 null
Transcript: ENSMUST00000093166
AA Change: K1052*
SMART Domains Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: K1052*

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142017
AA Change: K746*
SMART Domains Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: K746*

DomainStartEndE-ValueType
Pfam:FragX_IP 58 230 4e-66 PFAM
Pfam:FragX_IP 246 916 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165599
AA Change: K1052*
SMART Domains Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: K1052*

DomainStartEndE-ValueType
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: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (96/96)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,198 (GRCm39) S155G probably benign Het
Abcc4 T C 14: 118,865,066 (GRCm39) N320S probably damaging Het
Akr1c19 G A 13: 4,287,069 (GRCm39) R96H probably benign Het
Ankrd17 T C 5: 90,439,010 (GRCm39) D451G possibly damaging Het
Ano8 T A 8: 71,937,754 (GRCm39) D36V probably damaging Het
Aqp3 A G 4: 41,098,003 (GRCm39) V36A probably benign Het
Atf7ip A G 6: 136,537,708 (GRCm39) T314A probably benign Het
Atp2c1 A T 9: 105,300,198 (GRCm39) D700E probably damaging Het
Axin2 G A 11: 108,830,202 (GRCm39) V341M possibly damaging Het
Bin3 A G 14: 70,371,976 (GRCm39) Q139R probably damaging Het
Brca2 A G 5: 150,455,802 (GRCm39) D181G probably damaging Het
Capn3 A G 2: 120,325,295 (GRCm39) E466G probably damaging Het
Ccdc14 T A 16: 34,543,989 (GRCm39) Y830* probably null Het
Cdk12 T C 11: 98,111,910 (GRCm39) F723L unknown Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cip2a T A 16: 48,822,016 (GRCm39) S215T probably benign Het
Clca3a2 T A 3: 144,804,545 (GRCm39) I61F probably damaging Het
Clca4b T C 3: 144,628,529 (GRCm39) T393A not run Het
Cldn5 G A 16: 18,595,845 (GRCm39) A34T probably damaging Het
Cobll1 A T 2: 64,928,717 (GRCm39) S870T probably damaging Het
Col12a1 T C 9: 79,613,642 (GRCm39) K68E probably damaging Het
Crnn A T 3: 93,055,841 (GRCm39) Q209L probably damaging Het
Cwf19l1 A T 19: 44,120,579 (GRCm39) F45I probably damaging Het
D930020B18Rik G A 10: 121,503,716 (GRCm39) probably null Het
Dcc G A 18: 71,959,194 (GRCm39) P193S probably damaging Het
Dda1 T A 8: 71,927,137 (GRCm39) C48S probably benign Het
Disc1 A G 8: 125,881,780 (GRCm39) R572G probably damaging Het
Dnah7a A T 1: 53,536,297 (GRCm39) M2582K probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dynlrb2 T C 8: 117,241,696 (GRCm39) V80A probably benign Het
Eif3a A T 19: 60,755,082 (GRCm39) D1033E unknown Het
Enam C A 5: 88,649,347 (GRCm39) H285Q possibly damaging Het
Ep400 T C 5: 110,867,480 (GRCm39) D980G unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Erc2 A C 14: 27,762,346 (GRCm39) D703A probably damaging Het
Ezh2 G T 6: 47,510,692 (GRCm39) S639* probably null Het
Fbn1 G A 2: 125,193,969 (GRCm39) H1333Y probably damaging Het
Flad1 A G 3: 89,315,972 (GRCm39) S197P possibly damaging Het
Foxl3 A G 5: 138,806,736 (GRCm39) H82R probably damaging Het
Gfm2 G T 13: 97,279,529 (GRCm39) C26F probably benign Het
Golga2 C T 2: 32,193,013 (GRCm39) Q444* probably null Het
Gp5 A T 16: 30,127,426 (GRCm39) V416D probably damaging Het
Gpat2 A G 2: 127,268,901 (GRCm39) probably null Het
Gpr137c A G 14: 45,516,471 (GRCm39) D353G probably damaging Het
Hoxa13 A C 6: 52,236,862 (GRCm39) W133G probably damaging Het
Hydin A T 8: 111,284,294 (GRCm39) I3189F probably damaging Het
Hydin A T 8: 111,327,905 (GRCm39) K4804M probably damaging Het
Ice2 T C 9: 69,307,794 (GRCm39) F26S probably damaging Het
Ints11 T C 4: 155,956,687 (GRCm39) probably null Het
Ipo5 A G 14: 121,157,497 (GRCm39) I112V probably benign Het
Itgax T A 7: 127,734,481 (GRCm39) S346R probably damaging Het
Kcnj13 T A 1: 87,316,739 (GRCm39) M125L probably damaging Het
Lmbrd1 T A 1: 24,783,948 (GRCm39) V359E possibly damaging Het
Lrrc7 T G 3: 157,903,798 (GRCm39) K287N probably damaging Het
Mau2 C T 8: 70,481,884 (GRCm39) A191T possibly damaging Het
Mkx C A 18: 7,000,747 (GRCm39) R65L possibly damaging Het
Mroh4 T A 15: 74,482,220 (GRCm39) K746* probably null Het
Myh4 A G 11: 67,133,674 (GRCm39) T238A probably damaging Het
Nlrp9c T A 7: 26,070,822 (GRCm39) N920Y possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Ntn4 T C 10: 93,480,666 (GRCm39) L130P probably damaging Het
Or2ag13 A G 7: 106,313,171 (GRCm39) V239A probably benign Het
Or4a68 A G 2: 89,270,542 (GRCm39) V27A probably benign Het
Or4f59 A T 2: 111,873,359 (GRCm39) V6E possibly damaging Het
Or56a42-ps1 T A 7: 104,777,552 (GRCm39) I21F probably benign Het
Or8d23 A T 9: 38,842,072 (GRCm39) I202F probably damaging Het
Otog T C 7: 45,947,732 (GRCm39) L110P probably damaging Het
Platr25 G A 13: 62,848,719 (GRCm39) H48Y probably benign Het
Plcxd2 T C 16: 45,800,789 (GRCm39) E145G probably damaging Het
Pltp A T 2: 164,696,242 (GRCm39) N143K probably damaging Het
Pnpt1 T C 11: 29,111,334 (GRCm39) Y735H probably damaging Het
Prom1 A G 5: 44,178,173 (GRCm39) Y520H probably damaging Het
Rag2 A G 2: 101,461,118 (GRCm39) Y476C probably damaging Het
Rdh16f2 A G 10: 127,712,893 (GRCm39) Y297C probably damaging Het
Ryr1 T C 7: 28,785,180 (GRCm39) E1844G probably benign Het
Ryr2 A G 13: 11,655,161 (GRCm39) C3679R probably damaging Het
Sirt1 A G 10: 63,157,782 (GRCm39) I544T probably benign Het
Slc26a10 A T 10: 127,012,716 (GRCm39) I382N possibly damaging Het
Sox2 C A 3: 34,705,121 (GRCm39) P186Q possibly damaging Het
Spata31e5 A T 1: 28,819,233 (GRCm39) M16K probably benign Het
Tnpo3 A G 6: 29,556,995 (GRCm39) L752P probably damaging Het
Top2b T A 14: 16,416,649 (GRCm38) N1136K probably benign Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttf2 C A 3: 100,870,618 (GRCm39) D152Y possibly damaging Het
Txndc15 T C 13: 55,862,601 (GRCm39) L4P unknown Het
Unc5a T C 13: 55,144,386 (GRCm39) V237A possibly damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vav3 C A 3: 109,535,415 (GRCm39) P616T possibly damaging Het
Vmn2r15 T A 5: 109,441,105 (GRCm39) D251V probably benign Het
Vmn2r15 A G 5: 109,445,388 (GRCm39) L12S probably benign Het
Wfs1 A C 5: 37,125,076 (GRCm39) I605S probably benign Het
Wif1 G A 10: 120,919,814 (GRCm39) R187Q possibly damaging Het
Yipf1 A G 4: 107,207,738 (GRCm39) probably null Het
Zdhhc20 G T 14: 58,111,377 (GRCm39) F74L possibly damaging Het
Zfp507 T C 7: 35,475,843 (GRCm39) T303A unknown Het
Zfp763 A T 17: 33,252,352 (GRCm39) probably benign 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
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
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'- TTCTTAGCAGAGCTCACGGC -3'
(R):5'- TCCAGAACCAAGGAGAAAGTTCTG -3'

Sequencing Primer
(F):5'- CCAGCTCTATGGTATTGGACACAC -3'
(R):5'- GGAGAAAGTTCTGCACACTCTAC -3'
Posted On 2019-09-13