Incidental Mutation 'R5447:Cyfip2'
| ID |
429140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| MMRRC Submission |
043012-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46182413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 15
(D15G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000129474]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093165
AA Change: D15G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: D15G
| 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 |
possibly damaging
Transcript: ENSMUST00000093166
AA Change: D15G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: D15G
| 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: ENSMUST00000129474
AA Change: D15G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165599
AA Change: D15G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: D15G
| 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 |
0.3211 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
| Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
| BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
| E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
| Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
| Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
| Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
| Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
| Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
| Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
| Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
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 |
|
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 |
|
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'- ATCCTAGAGTGCACGAGGAC -3'
(R):5'- GAATTTGAGAGTGACCTCAGTGACC -3'
Sequencing Primer
(F):5'- AGTGCACGAGGACTCCATCAG -3'
(R):5'- AGTGACCTCAGTGACCCTTGAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation