Incidental Mutation 'R9722:Cyfip2'
| ID |
730864 |
| 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)
|
| Stock # |
R9722 (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 46087135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1252
(T1252A)
|
| 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: T1252A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: T1252A
| 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: T1252A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: T1252A
| 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
AA Change: T946A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: T946A
| 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: T1252A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: T1252A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1690 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,269 (GRCm39) |
I52F |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,250,072 (GRCm39) |
L1017Q |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,096,186 (GRCm39) |
D366G |
possibly damaging |
Het |
| Astn2 |
C |
T |
4: 65,831,978 (GRCm39) |
V563I |
probably benign |
Het |
| Atrn |
C |
A |
2: 130,803,536 (GRCm39) |
D575E |
probably damaging |
Het |
| Baz1a |
C |
T |
12: 54,946,882 (GRCm39) |
D1228N |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,729,925 (GRCm39) |
D267E |
probably damaging |
Het |
| Cd209c |
G |
T |
8: 3,995,905 (GRCm39) |
R2S |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,261,301 (GRCm39) |
Y2523C |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,323,892 (GRCm39) |
P990L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,279 (GRCm39) |
I108V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,948 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,768 (GRCm39) |
D881G |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,951,215 (GRCm39) |
N531S |
probably benign |
Het |
| Fbxo2 |
G |
A |
4: 148,248,883 (GRCm39) |
R125H |
probably damaging |
Het |
| Foxred1 |
C |
T |
9: 35,117,300 (GRCm39) |
S277N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,041,418 (GRCm39) |
E518G |
probably damaging |
Het |
| Gm17655 |
A |
G |
5: 110,194,226 (GRCm39) |
Y519H |
probably benign |
Het |
| Igkv4-57-1 |
A |
T |
6: 69,521,493 (GRCm39) |
W70R |
probably damaging |
Het |
| Krtap4-13 |
A |
G |
11: 99,700,180 (GRCm39) |
S160P |
unknown |
Het |
| Map3k3 |
A |
G |
11: 106,033,361 (GRCm39) |
I205V |
possibly damaging |
Het |
| Map3k4 |
A |
C |
17: 12,490,523 (GRCm39) |
F303V |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,304,504 (GRCm39) |
Q132R |
probably damaging |
Het |
| Myo10 |
T |
A |
15: 25,801,227 (GRCm39) |
V1472E |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,401,568 (GRCm39) |
Q39* |
probably null |
Het |
| Nog |
A |
G |
11: 89,192,396 (GRCm39) |
S151P |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,831 (GRCm39) |
S15F |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,813,594 (GRCm39) |
H647R |
possibly damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,500 (GRCm39) |
R2G |
probably benign |
Het |
| Pcdhga11 |
T |
C |
18: 37,890,398 (GRCm39) |
S469P |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 91,938,695 (GRCm39) |
K290R |
possibly damaging |
Het |
| Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,225,497 (GRCm39) |
L530R |
|
Het |
| Pigg |
A |
T |
5: 108,495,767 (GRCm39) |
I935F |
possibly damaging |
Het |
| Pofut2 |
T |
C |
10: 77,102,759 (GRCm39) |
S282P |
possibly damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,071,402 (GRCm39) |
S337P |
probably benign |
Het |
| Sdr16c5 |
A |
T |
4: 4,005,595 (GRCm39) |
D246E |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,428,207 (GRCm39) |
H327L |
possibly damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,211 (GRCm39) |
I113T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,603,985 (GRCm39) |
|
probably null |
Het |
| Snx11 |
A |
G |
11: 96,661,925 (GRCm39) |
S86P |
probably benign |
Het |
| Srm |
T |
A |
4: 148,676,245 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
C |
6: 42,412,082 (GRCm39) |
I205T |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,753,849 (GRCm39) |
S851R |
probably benign |
Het |
| Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,733,476 (GRCm39) |
|
probably null |
Het |
| Trim33 |
C |
A |
3: 103,261,146 (GRCm39) |
T1115K |
possibly damaging |
Het |
| Tspan13 |
T |
A |
12: 36,074,017 (GRCm39) |
I40F |
probably damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,394,899 (GRCm39) |
I91V |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,631 (GRCm39) |
F115L |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,598,407 (GRCm39) |
P717S |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,387,324 (GRCm39) |
T4910A |
unknown |
Het |
| Zfp599 |
T |
A |
9: 22,160,741 (GRCm39) |
T475S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,923,301 (GRCm39) |
F700I |
probably damaging |
Het |
| Zfp985 |
A |
C |
4: 147,667,618 (GRCm39) |
K162T |
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 |
|
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 |
|
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'- TATCATGGGAGGAACATGCG -3'
(R):5'- TGTCAGGAATCTGGACTGCAG -3'
Sequencing Primer
(F):5'- CGGGAGCCCAGCCCTTG -3'
(R):5'- AATCTGGACTGCAGCCCCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation