Incidental Mutation 'R2162:Cyfip2'
| ID |
235220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| MMRRC Submission |
040165-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2162 (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 46152333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 485
(D485G)
|
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: D485G
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: D485G
| 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: D154G
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: D154G
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: D485G
| 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 |
0.2706 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
| Ankrd28 |
T |
C |
14: 31,430,719 (GRCm39) |
D850G |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,852,813 (GRCm39) |
M1T |
probably null |
Het |
| Atp6v0a4 |
T |
G |
6: 38,065,581 (GRCm39) |
K128N |
possibly damaging |
Het |
| Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,634,348 (GRCm39) |
I82V |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,167,320 (GRCm39) |
V447A |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,569,059 (GRCm39) |
R528C |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,730,191 (GRCm39) |
Q835L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
A |
1: 184,462,889 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,979,062 (GRCm39) |
V815D |
probably benign |
Het |
| Il36rn |
G |
T |
2: 24,169,692 (GRCm39) |
L17F |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,167,446 (GRCm39) |
V157I |
probably benign |
Het |
| Krtap19-3 |
T |
G |
16: 88,674,607 (GRCm39) |
*88C |
probably null |
Het |
| Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mep1b |
C |
T |
18: 21,219,296 (GRCm39) |
T150I |
possibly damaging |
Het |
| Mroh7 |
G |
C |
4: 106,557,378 (GRCm39) |
S777R |
probably damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,469,859 (GRCm39) |
R35C |
probably damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,704 (GRCm39) |
I180K |
probably damaging |
Het |
| Or51v8 |
T |
G |
7: 103,320,079 (GRCm39) |
Q53P |
possibly damaging |
Het |
| Or5p69 |
C |
A |
7: 107,966,769 (GRCm39) |
P24Q |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,014,567 (GRCm39) |
T243A |
probably benign |
Het |
| Pan2 |
A |
G |
10: 128,140,091 (GRCm39) |
E4G |
possibly damaging |
Het |
| Pdp1 |
A |
G |
4: 11,961,123 (GRCm39) |
V396A |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,024,494 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,914 (GRCm39) |
|
probably benign |
Het |
| Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
| Ppp1r9b |
T |
C |
11: 94,888,877 (GRCm39) |
L97P |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,364,573 (GRCm39) |
Y789F |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
| Spata31g1 |
A |
G |
4: 42,972,238 (GRCm39) |
T524A |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,908,588 (GRCm39) |
|
probably benign |
Het |
| Srrd |
G |
T |
5: 112,490,810 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,718,221 (GRCm39) |
T201A |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,795 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,224 (GRCm39) |
D264G |
possibly damaging |
Het |
| Whamm |
A |
G |
7: 81,221,089 (GRCm39) |
D7G |
probably damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,206,104 (GRCm39) |
I62K |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 83,005,063 (GRCm39) |
R656G |
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 |
|
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 |
|
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'- TAGCCTACTCGCTACACACG -3'
(R):5'- TCTGGGCAACATGGCAAAG -3'
Sequencing Primer
(F):5'- CACGATGTGTGCTGAAGTCTACAC -3'
(R):5'- CAACATGGCAAAGCGTGGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation