Incidental Mutation 'R5820:Cyfip2'
ID |
449879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyfip2
|
Ensembl Gene |
ENSMUSG00000020340 |
Gene Name |
cytoplasmic FMR1 interacting protein 2 |
Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
MMRRC Submission |
043400-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5820 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46091531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1130
(W1130R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
AlphaFold |
Q5SQX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093165
AA Change: W1130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090853 Gene: ENSMUSG00000020340 AA Change: W1130R
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 damaging
Transcript: ENSMUST00000093166
AA Change: W1130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090854 Gene: ENSMUSG00000020340 AA Change: W1130R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142017
AA Change: W824R
|
SMART Domains |
Protein: ENSMUSP00000119801 Gene: ENSMUSG00000020340 AA Change: W824R
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 damaging
Transcript: ENSMUST00000165599
AA Change: W1130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127586 Gene: ENSMUSG00000020340 AA Change: W1130R
Domain | Start | End | E-Value | Type |
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: 98.5%
- 20x: 95.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,841,607 (GRCm39) |
Y596H |
probably benign |
Het |
Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgef38 |
A |
T |
3: 132,866,560 (GRCm39) |
D192E |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,224,953 (GRCm39) |
F33L |
possibly damaging |
Het |
Arid1b |
A |
G |
17: 5,046,529 (GRCm39) |
Y439C |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,093,675 (GRCm39) |
V875A |
probably benign |
Het |
Bop1 |
G |
A |
15: 76,339,041 (GRCm39) |
P386S |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,007,342 (GRCm39) |
H453R |
probably damaging |
Het |
Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
Chfr |
T |
A |
5: 110,310,605 (GRCm39) |
D475E |
possibly damaging |
Het |
Clcn7 |
A |
C |
17: 25,368,026 (GRCm39) |
K208T |
probably damaging |
Het |
Cmya5 |
G |
T |
13: 93,229,288 (GRCm39) |
N1933K |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,144,900 (GRCm39) |
T588A |
possibly damaging |
Het |
Cwh43 |
G |
A |
5: 73,585,975 (GRCm39) |
W358* |
probably null |
Het |
Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,917,151 (GRCm39) |
S92G |
probably benign |
Het |
Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
Ecscr |
C |
A |
18: 35,850,320 (GRCm39) |
V52F |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,949,365 (GRCm39) |
N712I |
probably damaging |
Het |
Eva1a |
C |
T |
6: 82,048,154 (GRCm39) |
P11S |
probably benign |
Het |
Fam187b |
T |
C |
7: 30,676,577 (GRCm39) |
C29R |
probably damaging |
Het |
Fau |
T |
C |
19: 6,109,452 (GRCm39) |
V117A |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,685,374 (GRCm39) |
D369G |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,263,783 (GRCm39) |
F95L |
probably benign |
Het |
Fkbp6 |
A |
T |
5: 135,368,774 (GRCm39) |
|
probably null |
Het |
Fmo9 |
T |
C |
1: 166,492,170 (GRCm39) |
K367E |
possibly damaging |
Het |
Gad2 |
T |
C |
2: 22,580,261 (GRCm39) |
V554A |
probably benign |
Het |
Gm18025 |
T |
C |
12: 34,340,631 (GRCm39) |
D154G |
probably benign |
Het |
Gm4353 |
A |
G |
7: 115,683,693 (GRCm39) |
F34S |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,522 (GRCm39) |
I459T |
probably benign |
Het |
Hpx |
A |
G |
7: 105,240,995 (GRCm39) |
I426T |
possibly damaging |
Het |
Hspa9 |
T |
C |
18: 35,076,227 (GRCm39) |
T362A |
possibly damaging |
Het |
Insr |
G |
A |
8: 3,205,976 (GRCm39) |
P1271L |
probably damaging |
Het |
Jarid2 |
G |
A |
13: 45,055,777 (GRCm39) |
V328I |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,803,874 (GRCm39) |
S429P |
probably benign |
Het |
Lats1 |
A |
T |
10: 7,581,672 (GRCm39) |
H819L |
probably damaging |
Het |
Lmnb1 |
T |
A |
18: 56,873,858 (GRCm39) |
D421E |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,322,960 (GRCm39) |
I1148T |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,569,332 (GRCm39) |
M1130L |
unknown |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Myh6 |
T |
C |
14: 55,196,137 (GRCm39) |
Y554C |
probably damaging |
Het |
Myl4 |
T |
C |
11: 104,474,806 (GRCm39) |
F52L |
probably damaging |
Het |
Nol12 |
C |
T |
15: 78,824,680 (GRCm39) |
T169I |
probably benign |
Het |
Nrde2 |
C |
T |
12: 100,098,546 (GRCm39) |
R707H |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,037 (GRCm39) |
V366M |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,895 (GRCm39) |
I289T |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Polrmt |
C |
T |
10: 79,574,157 (GRCm39) |
|
probably null |
Het |
Ppil4 |
A |
G |
10: 7,686,174 (GRCm39) |
D344G |
probably null |
Het |
Ppp2r3d |
C |
T |
9: 124,422,765 (GRCm38) |
A69T |
possibly damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,554 (GRCm39) |
P487S |
probably damaging |
Het |
Ptprm |
A |
T |
17: 66,996,460 (GRCm39) |
L1209H |
probably damaging |
Het |
Rnf115 |
G |
A |
3: 96,635,164 (GRCm39) |
|
probably benign |
Het |
Sec63 |
A |
G |
10: 42,672,241 (GRCm39) |
D185G |
possibly damaging |
Het |
Sema4b |
T |
C |
7: 79,874,706 (GRCm39) |
S699P |
probably damaging |
Het |
Serpinb3d |
T |
G |
1: 107,006,089 (GRCm39) |
E333A |
probably damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,274,112 (GRCm39) |
L426P |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,503 (GRCm39) |
I611M |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,394,219 (GRCm39) |
Y194N |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,906 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Vmn1r188 |
G |
A |
13: 22,272,256 (GRCm39) |
G70D |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,723,699 (GRCm39) |
M1901V |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,578,649 (GRCm39) |
D821E |
probably benign |
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 |
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 |
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'- TCCACTGTTGCCATGTCCAG -3'
(R):5'- TGATGCTGTGTTAACATATGCTTCC -3'
Sequencing Primer
(F):5'- TTGCCATGTCCAGCGCTG -3'
(R):5'- TGTCTCAGCAAATCGCCATCG -3'
|
Posted On |
2016-12-20 |