Incidental Mutation 'R6502:Cyfip2'
ID |
519808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyfip2
|
Ensembl Gene |
ENSMUSG00000020340 |
Gene Name |
cytoplasmic FMR1 interacting protein 2 |
Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
MMRRC Submission |
044634-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6502 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46112173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1010
(E1010G)
|
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: E1010G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090853 Gene: ENSMUSG00000020340 AA Change: E1010G
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: E1010G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090854 Gene: ENSMUSG00000020340 AA Change: E1010G
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: E704G
|
SMART Domains |
Protein: ENSMUSP00000119801 Gene: ENSMUSG00000020340 AA Change: E704G
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: E1010G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127586 Gene: ENSMUSG00000020340 AA Change: E1010G
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: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,333,908 (GRCm39) |
I24K |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,849,316 (GRCm39) |
C467S |
probably damaging |
Het |
Adcy7 |
G |
A |
8: 89,052,107 (GRCm39) |
R925Q |
probably damaging |
Het |
Akap6 |
G |
A |
12: 53,186,998 (GRCm39) |
G1471S |
probably damaging |
Het |
Ap2b1 |
T |
C |
11: 83,233,505 (GRCm39) |
V506A |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,814 (GRCm39) |
I1113M |
probably damaging |
Het |
Arsg |
A |
T |
11: 109,408,162 (GRCm39) |
N105Y |
probably damaging |
Het |
Blm |
T |
A |
7: 80,131,223 (GRCm39) |
Y872F |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,961,017 (GRCm39) |
N797Y |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,846,320 (GRCm39) |
E201G |
probably damaging |
Het |
Ccdc122 |
T |
A |
14: 77,279,509 (GRCm39) |
|
probably null |
Homo |
Ccdc141 |
A |
G |
2: 77,000,745 (GRCm39) |
V29A |
probably damaging |
Het |
Cd244a |
T |
A |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,670,690 (GRCm39) |
Y186C |
probably damaging |
Het |
Ciita |
C |
T |
16: 10,329,774 (GRCm39) |
A686V |
probably damaging |
Het |
Clptm1l |
T |
C |
13: 73,765,884 (GRCm39) |
|
probably null |
Het |
Col16a1 |
C |
T |
4: 129,949,787 (GRCm39) |
P50L |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,546,804 (GRCm39) |
V38D |
probably damaging |
Het |
Dvl3 |
G |
A |
16: 20,346,133 (GRCm39) |
E488K |
probably damaging |
Het |
Eed |
C |
A |
7: 89,626,237 (GRCm39) |
E45D |
probably benign |
Het |
Eln |
A |
G |
5: 134,754,628 (GRCm39) |
|
probably benign |
Het |
Fah |
T |
A |
7: 84,244,043 (GRCm39) |
I239F |
probably damaging |
Het |
Fbxw5 |
T |
A |
2: 25,392,448 (GRCm39) |
Y77N |
possibly damaging |
Het |
Garnl3 |
T |
C |
2: 32,896,833 (GRCm39) |
E602G |
possibly damaging |
Het |
Gkn3 |
A |
T |
6: 87,365,786 (GRCm39) |
M11K |
probably benign |
Het |
Glt1d1 |
A |
G |
5: 127,784,045 (GRCm39) |
Y333C |
probably damaging |
Het |
Gm10762 |
A |
T |
2: 128,809,090 (GRCm39) |
Y86* |
probably null |
Het |
Gm14496 |
A |
G |
2: 181,642,386 (GRCm39) |
M686V |
probably benign |
Het |
Gse1 |
T |
A |
8: 121,280,428 (GRCm39) |
|
probably null |
Het |
Herc4 |
C |
A |
10: 63,153,197 (GRCm39) |
T1035K |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,272,490 (GRCm39) |
N1323K |
probably damaging |
Het |
Hnrnpd |
T |
A |
5: 100,114,025 (GRCm39) |
E3D |
probably damaging |
Het |
Htr7 |
T |
A |
19: 35,947,010 (GRCm39) |
I335F |
probably damaging |
Het |
Ift70b |
T |
A |
2: 75,767,448 (GRCm39) |
N435I |
possibly damaging |
Het |
Itgae |
A |
T |
11: 73,036,418 (GRCm39) |
I1119F |
probably benign |
Het |
Lcn11 |
T |
C |
2: 25,669,103 (GRCm39) |
F137S |
probably benign |
Het |
Lrp3 |
T |
G |
7: 34,903,413 (GRCm39) |
D311A |
possibly damaging |
Het |
Lrrc1 |
G |
T |
9: 77,349,473 (GRCm39) |
D364E |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,383,005 (GRCm39) |
E2456V |
unknown |
Het |
Lrriq1 |
T |
C |
10: 103,063,045 (GRCm39) |
Y87C |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,601,457 (GRCm39) |
L449* |
probably null |
Het |
Mcc |
A |
T |
18: 44,601,458 (GRCm39) |
L624M |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,488,935 (GRCm39) |
T496A |
probably damaging |
Het |
Myef2 |
T |
A |
2: 124,958,602 (GRCm39) |
D109V |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,489,824 (GRCm39) |
|
probably benign |
Het |
Nanos1 |
G |
T |
19: 60,744,977 (GRCm39) |
G92W |
possibly damaging |
Het |
Ncor1 |
T |
A |
11: 62,272,240 (GRCm39) |
K84* |
probably null |
Het |
Neb |
T |
A |
2: 52,181,094 (GRCm39) |
D1171V |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,377,191 (GRCm39) |
W267R |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,980,360 (GRCm39) |
M1K |
probably null |
Het |
Or8d1 |
A |
C |
9: 38,766,933 (GRCm39) |
T192P |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,355,485 (GRCm39) |
S758P |
probably benign |
Het |
Pi4k2a |
A |
G |
19: 42,079,371 (GRCm39) |
Q144R |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,392 (GRCm39) |
V327E |
probably benign |
Het |
Pla2g4a |
C |
T |
1: 149,748,367 (GRCm39) |
W272* |
probably null |
Het |
Plekha4 |
T |
A |
7: 45,180,000 (GRCm39) |
M1K |
probably null |
Het |
Ppt2 |
A |
G |
17: 34,844,894 (GRCm39) |
C117R |
probably damaging |
Het |
Prph |
A |
T |
15: 98,954,267 (GRCm39) |
I222F |
probably damaging |
Het |
Rbm43 |
T |
C |
2: 51,815,588 (GRCm39) |
D211G |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
Rnf123 |
G |
T |
9: 107,945,531 (GRCm39) |
Q380K |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,415,932 (GRCm39) |
F49S |
probably damaging |
Het |
Sall4 |
A |
G |
2: 168,597,628 (GRCm39) |
I404T |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,295,286 (GRCm39) |
P228L |
probably damaging |
Het |
Tbc1d14 |
T |
C |
5: 36,677,825 (GRCm39) |
T377A |
possibly damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,491,049 (GRCm39) |
I555T |
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,829,715 (GRCm39) |
S980T |
probably damaging |
Het |
Tmem14a |
G |
T |
1: 21,299,662 (GRCm39) |
L97F |
possibly damaging |
Het |
Tmem98 |
T |
C |
11: 80,703,461 (GRCm39) |
V26A |
probably benign |
Het |
Tmppe |
G |
T |
9: 114,234,720 (GRCm39) |
G340W |
probably damaging |
Het |
Tsc1 |
T |
C |
2: 28,555,613 (GRCm39) |
S237P |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,171,982 (GRCm39) |
R2992W |
probably damaging |
Het |
Ugt2a2 |
A |
G |
5: 87,608,318 (GRCm39) |
V673A |
possibly damaging |
Het |
Vmn2r19 |
T |
C |
6: 123,293,067 (GRCm39) |
Y370H |
possibly damaging |
Het |
Vmn2r20 |
A |
G |
6: 123,373,342 (GRCm39) |
F500S |
possibly damaging |
Het |
Zc3h7b |
A |
G |
15: 81,653,252 (GRCm39) |
Y47C |
probably benign |
Het |
Zdhhc13 |
A |
G |
7: 48,465,308 (GRCm39) |
E406G |
possibly damaging |
Het |
Zfp418 |
T |
C |
7: 7,185,599 (GRCm39) |
S521P |
possibly damaging |
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 |
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 |
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'- CAGATAACTGAGACCTGGCTG -3'
(R):5'- TAACCGGTATCCATGCCCTG -3'
Sequencing Primer
(F):5'- TCTGACCAGTGAGGGGTAC -3'
(R):5'- GGTATCCATGCCCTGATGCC -3'
|
Posted On |
2018-06-06 |