Incidental Mutation 'R6836:Cyfip2'
ID |
534578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyfip2
|
Ensembl Gene |
ENSMUSG00000020340 |
Gene Name |
cytoplasmic FMR1 interacting protein 2 |
Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6836 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46163467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 321
(T321A)
|
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: T321A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090853 Gene: ENSMUSG00000020340 AA Change: T321A
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 benign
Transcript: ENSMUST00000093166
AA Change: T321A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090854 Gene: ENSMUSG00000020340 AA Change: T321A
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142017
|
SMART Domains |
Protein: ENSMUSP00000119801 Gene: ENSMUSG00000020340
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 benign
Transcript: ENSMUST00000165599
AA Change: T321A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127586 Gene: ENSMUSG00000020340 AA Change: T321A
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
T |
C |
2: 26,971,718 (GRCm39) |
M1T |
probably null |
Het |
Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,077,331 (GRCm39) |
Y473C |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,080,715 (GRCm39) |
R209G |
possibly damaging |
Het |
Asb5 |
A |
G |
8: 55,038,106 (GRCm39) |
M210V |
probably benign |
Het |
Atp2c2 |
T |
A |
8: 120,461,154 (GRCm39) |
L249Q |
probably damaging |
Het |
AU018091 |
T |
G |
7: 3,213,986 (GRCm39) |
D77A |
probably damaging |
Het |
Bahcc1 |
A |
T |
11: 120,162,583 (GRCm39) |
K294* |
probably null |
Het |
Baz2b |
C |
T |
2: 59,747,769 (GRCm39) |
R1298Q |
probably damaging |
Het |
Bivm |
T |
A |
1: 44,182,296 (GRCm39) |
N501K |
possibly damaging |
Het |
Bpifb5 |
T |
A |
2: 154,069,985 (GRCm39) |
I145N |
probably benign |
Het |
Casq2 |
A |
T |
3: 101,994,076 (GRCm39) |
N41I |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,345,833 (GRCm39) |
L993P |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,798,233 (GRCm39) |
I81F |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,224,442 (GRCm39) |
D50G |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,512,144 (GRCm39) |
I91F |
probably damaging |
Het |
Crebbp |
T |
A |
16: 3,997,886 (GRCm39) |
H66L |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,304,100 (GRCm39) |
V1268A |
probably benign |
Het |
E030030I06Rik |
A |
C |
10: 22,024,391 (GRCm39) |
V174G |
probably damaging |
Het |
Gm20730 |
G |
T |
6: 43,058,767 (GRCm39) |
|
probably null |
Het |
Gm36176 |
T |
C |
10: 77,682,976 (GRCm39) |
|
probably benign |
Het |
Gper1 |
T |
A |
5: 139,412,435 (GRCm39) |
M260K |
probably damaging |
Het |
Igfbp2 |
T |
C |
1: 72,888,817 (GRCm39) |
L89P |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,830,974 (GRCm39) |
N200S |
probably damaging |
Het |
Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
Klhl20 |
T |
A |
1: 160,932,976 (GRCm39) |
E277D |
probably benign |
Het |
Lingo1 |
T |
C |
9: 56,527,056 (GRCm39) |
Y517C |
probably damaging |
Het |
Lrrk1 |
C |
T |
7: 65,992,527 (GRCm39) |
E82K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,573,955 (GRCm39) |
V1275D |
possibly damaging |
Het |
Ncan |
C |
T |
8: 70,552,965 (GRCm39) |
S1089N |
possibly damaging |
Het |
Notch4 |
C |
T |
17: 34,805,074 (GRCm39) |
T1643I |
probably damaging |
Het |
Or13a25 |
A |
C |
7: 140,248,093 (GRCm39) |
I298L |
possibly damaging |
Het |
Or1i2 |
A |
G |
10: 78,448,424 (GRCm39) |
L17P |
probably damaging |
Het |
Or2y15 |
A |
T |
11: 49,350,904 (GRCm39) |
T133S |
possibly damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,683 (GRCm39) |
C177R |
probably damaging |
Het |
Pcdhgb6 |
T |
C |
18: 37,876,015 (GRCm39) |
V241A |
probably benign |
Het |
Phf11b |
T |
A |
14: 59,565,572 (GRCm39) |
T102S |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,800,233 (GRCm39) |
V2998E |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,801,629 (GRCm39) |
S352G |
probably benign |
Het |
Ptprh |
C |
T |
7: 4,554,134 (GRCm39) |
V778M |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,030,664 (GRCm39) |
Q1008* |
probably null |
Het |
Ralgapa1 |
A |
T |
12: 55,651,058 (GRCm39) |
|
probably null |
Het |
Rbm20 |
G |
A |
19: 53,802,500 (GRCm39) |
G336E |
probably damaging |
Het |
Sdsl |
T |
C |
5: 120,600,167 (GRCm39) |
I77V |
probably benign |
Het |
Serpina3b |
G |
A |
12: 104,100,341 (GRCm39) |
E308K |
probably benign |
Het |
Sfrp5 |
G |
A |
19: 42,190,149 (GRCm39) |
T101I |
probably damaging |
Het |
Slc2a13 |
C |
T |
15: 91,205,835 (GRCm39) |
V451I |
probably benign |
Het |
Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
Spg11 |
C |
T |
2: 121,890,016 (GRCm39) |
A2109T |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,530,324 (GRCm39) |
R2194C |
probably benign |
Het |
Tfeb |
T |
C |
17: 48,097,123 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
A |
17: 3,464,655 (GRCm39) |
I128N |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tpr |
T |
G |
1: 150,312,424 (GRCm39) |
|
probably null |
Het |
Traf3ip1 |
T |
C |
1: 91,448,722 (GRCm39) |
I456T |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,728,572 (GRCm39) |
D892E |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,727,156 (GRCm39) |
|
probably null |
Het |
Vmn2r74 |
T |
A |
7: 85,606,630 (GRCm39) |
I239F |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,100,865 (GRCm39) |
V251M |
probably damaging |
Het |
Xylb |
T |
A |
9: 119,220,820 (GRCm39) |
L531H |
probably damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,434 (GRCm39) |
C383S |
probably 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 |
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 |
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'- AGCCCTTTAGAGCCTGGTAG -3'
(R):5'- TTAGGAATCCTTCAAGCTACCGG -3'
Sequencing Primer
(F):5'- CCCTTTAGAGCCTGGTAGCTAAG -3'
(R):5'- TTCAAGCTACCGGCCCCAG -3'
|
Posted On |
2018-09-12 |