Incidental Mutation 'R9439:Cyfip2'
ID 713451
Institutional Source Beutler Lab
Gene Symbol Cyfip2
Ensembl Gene ENSMUSG00000020340
Gene Name cytoplasmic FMR1 interacting protein 2
Synonyms 6430511D02Rik, Pir121, 1500004I01Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 46084677-46203686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46091668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1084 (R1084Q)
Ref Sequence ENSEMBL: ENSMUSP00000090853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]
AlphaFold Q5SQX6
Predicted Effect probably damaging
Transcript: ENSMUST00000093165
AA Change: R1084Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: R1084Q

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 damaging
Transcript: ENSMUST00000093166
AA Change: R1084Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: R1084Q

DomainStartEndE-ValueType
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: R778Q

DomainStartEndE-ValueType
Pfam:FragX_IP 58 230 4e-66 PFAM
Pfam:FragX_IP 246 916 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165599
AA Change: R1084Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: R1084Q

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,048 (GRCm39) E412D probably benign Het
Aak1 T A 6: 86,933,274 (GRCm39) V415D probably damaging Het
Ache A C 5: 137,289,185 (GRCm39) D297A probably damaging Het
Armc9 T C 1: 86,084,687 (GRCm39) I4T possibly damaging Het
Atp8b2 T A 3: 89,851,492 (GRCm39) Y925F Het
Avpr1b T C 1: 131,528,029 (GRCm39) L184P probably damaging Het
Cabin1 G A 10: 75,581,069 (GRCm39) P419L probably damaging Het
Ccdc88c T C 12: 100,884,597 (GRCm39) S1578G probably benign Het
Ccnd2 A T 6: 127,127,617 (GRCm39) C40* probably null Het
Col6a3 A T 1: 90,744,155 (GRCm39) I471N probably damaging Het
Cp A G 3: 20,046,671 (GRCm39) probably null Het
Diaph1 A G 18: 38,029,412 (GRCm39) probably null Het
Dnah6 T C 6: 73,012,330 (GRCm39) N3713S possibly damaging Het
Dot1l G T 10: 80,621,438 (GRCm39) R633L possibly damaging Het
Ehmt1 A T 2: 24,715,030 (GRCm39) M809K probably damaging Het
Fcgbp C A 7: 27,803,436 (GRCm39) A1680E possibly damaging Het
Flt1 A G 5: 147,515,207 (GRCm39) F1072L probably damaging Het
Gm19410 G T 8: 36,248,810 (GRCm39) A549S probably damaging Het
Gm57859 C T 11: 113,583,229 (GRCm39) Q519* probably null Het
Gnat1 A T 9: 107,553,511 (GRCm39) I249N Het
Gp2 T C 7: 119,053,433 (GRCm39) Y176C probably damaging Het
Gpc2 G T 5: 138,277,248 (GRCm39) Q60K probably benign Het
Gpsm2 T A 3: 108,610,397 (GRCm39) E21V probably damaging Het
Igkv4-80 T A 6: 68,993,793 (GRCm39) M33L probably benign Het
Il20ra C A 10: 19,618,751 (GRCm39) H66Q probably benign Het
Kap C T 6: 133,828,950 (GRCm39) D61N probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mpp7 A T 18: 7,461,692 (GRCm39) Y60* probably null Het
Neil1 T A 9: 57,051,098 (GRCm39) R294* probably null Het
Nkx6-3 A G 8: 23,643,778 (GRCm39) S60G probably benign Het
Noc2l T A 4: 156,326,130 (GRCm39) S406T possibly damaging Het
Or11m3 T C 15: 98,396,247 (GRCm39) V298A possibly damaging Het
Or14j2 A G 17: 37,885,825 (GRCm39) I163T probably benign Het
Or2h2c A G 17: 37,422,205 (GRCm39) V223A probably damaging Het
Or2t46 T C 11: 58,472,104 (GRCm39) C145R probably benign Het
Or51ac3 T G 7: 103,214,049 (GRCm39) I146L probably benign Het
Or5p81 T C 7: 108,266,626 (GRCm39) M1T probably null Het
Paqr4 A G 17: 23,958,939 (GRCm39) F21L probably damaging Het
Pcdha9 A G 18: 37,131,527 (GRCm39) T199A probably benign Het
Pcdhgb7 T C 18: 37,884,917 (GRCm39) L29P probably benign Het
Pfkl G A 10: 77,831,172 (GRCm39) A323V probably damaging Het
Pik3r4 C A 9: 105,528,041 (GRCm39) P465T probably damaging Het
Pitpnm2 A G 5: 124,274,189 (GRCm39) S307P probably damaging Het
Pitpnm2 A G 5: 124,278,659 (GRCm39) Y191H probably damaging Het
Plod3 G A 5: 137,023,036 (GRCm39) V613I probably benign Het
Prr23a2 C T 9: 98,738,921 (GRCm39) T93I probably damaging Het
Ptk6 T A 2: 180,840,206 (GRCm39) M267L possibly damaging Het
Rabl6 C T 2: 25,492,432 (GRCm39) probably null Het
Ralgapa2 T C 2: 146,254,058 (GRCm39) H787R probably benign Het
Rfx8 T G 1: 39,724,669 (GRCm39) M231L probably benign Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Smpd4 A G 16: 17,459,451 (GRCm39) I625V probably benign Het
Tcf7l1 A G 6: 72,765,740 (GRCm39) S66P probably damaging Het
Tsc22d1 G A 14: 76,743,899 (GRCm39) V1007M probably damaging Het
Tspoap1 C T 11: 87,665,535 (GRCm39) R758C probably damaging Het
Vmn1r210 A C 13: 23,011,397 (GRCm39) H296Q possibly damaging Het
Zfp532 G A 18: 65,818,714 (GRCm39) V857I probably benign Het
Zfyve9 T C 4: 108,501,538 (GRCm39) T593A 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
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
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'- AGCTGTGAACTCGTTGGTCC -3'
(R):5'- CTCAAGTTCTTAGGTTCAGTGCC -3'

Sequencing Primer
(F):5'- TGAACTCGTTGGTCCCCACAG -3'
(R):5'- AGGTTCAGTGCCCTGCTC -3'
Posted On 2022-05-16