Incidental Mutation 'R9180:Cyfip2'
| ID |
696974 |
| 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 # |
R9180 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46176920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 87
(R87C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093165
AA Change: R87C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: R87C
| 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: R87C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: R87C
| 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 damaging
Transcript: ENSMUST00000165599
AA Change: R87C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: R87C
| 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: 99.7%
- 20x: 99.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
G |
A |
3: 137,889,470 (GRCm39) |
P49L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,970 (GRCm39) |
R85* |
probably null |
Het |
| Anapc2 |
C |
T |
2: 25,163,303 (GRCm39) |
T180I |
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,756,276 (GRCm39) |
H556Q |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,378,777 (GRCm39) |
K1009* |
probably null |
Het |
| Apob |
C |
T |
12: 8,047,925 (GRCm39) |
P968L |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,116,608 (GRCm39) |
F335Y |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,719 (GRCm39) |
Y222C |
probably damaging |
Het |
| Camk2b |
G |
T |
11: 5,939,332 (GRCm39) |
C273* |
probably null |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Cenpb |
C |
T |
2: 131,021,463 (GRCm39) |
G112S |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,739,178 (GRCm39) |
L2585P |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,147,339 (GRCm39) |
E555G |
probably damaging |
Het |
| Coro1b |
T |
C |
19: 4,203,392 (GRCm39) |
V411A |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 63,045,410 (GRCm39) |
I725L |
probably benign |
Het |
| Dydc1 |
A |
C |
14: 40,800,054 (GRCm39) |
E20A |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,609,845 (GRCm39) |
I317V |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,942,556 (GRCm39) |
N483S |
possibly damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,251,095 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
G |
T |
7: 27,803,198 (GRCm39) |
E1601* |
probably null |
Het |
| Fer1l5 |
A |
T |
1: 36,449,999 (GRCm39) |
S1118C |
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,494,230 (GRCm39) |
V1141A |
probably benign |
Het |
| Flnb |
C |
T |
14: 7,818,219 (GRCm38) |
T23M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,815,574 (GRCm39) |
L3769P |
possibly damaging |
Het |
| Gna11 |
T |
C |
10: 81,370,942 (GRCm39) |
K98R |
|
Het |
| Gpat3 |
A |
T |
5: 101,032,230 (GRCm39) |
T176S |
probably benign |
Het |
| Gprc5b |
A |
G |
7: 118,583,542 (GRCm39) |
L109P |
probably damaging |
Het |
| Hadha |
A |
T |
5: 30,340,038 (GRCm39) |
N246K |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,324,835 (GRCm39) |
Q275* |
probably null |
Het |
| Higd1b |
A |
G |
11: 102,728,090 (GRCm39) |
Y44C |
possibly damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,218 (GRCm39) |
K55R |
probably benign |
Het |
| Igtp |
G |
T |
11: 58,098,091 (GRCm39) |
E421* |
probably null |
Het |
| Kcnk3 |
G |
T |
5: 30,745,532 (GRCm39) |
|
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,165 (GRCm39) |
C165S |
unknown |
Het |
| Lrfn4 |
T |
C |
19: 4,663,353 (GRCm39) |
R394G |
probably benign |
Het |
| Lrrc7 |
A |
C |
3: 157,867,011 (GRCm39) |
L910R |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,823,218 (GRCm39) |
D568G |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,693,826 (GRCm39) |
I279N |
probably benign |
Het |
| Mmrn2 |
A |
G |
14: 34,121,158 (GRCm39) |
H676R |
probably benign |
Het |
| Mrgprg |
T |
C |
7: 143,318,350 (GRCm39) |
K254R |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,554,038 (GRCm39) |
V4085G |
unknown |
Het |
| Mvp |
T |
C |
7: 126,591,822 (GRCm39) |
Q456R |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,329,318 (GRCm39) |
D209G |
probably benign |
Het |
| Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
| Or11l3 |
A |
G |
11: 58,516,062 (GRCm39) |
L270P |
probably benign |
Het |
| Or1l4 |
A |
G |
2: 37,091,292 (GRCm39) |
D13G |
probably benign |
Het |
| Or51f23b |
T |
A |
7: 102,402,734 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or5m3 |
T |
G |
2: 85,838,325 (GRCm39) |
D68E |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,272,858 (GRCm39) |
F59S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,114,537 (GRCm39) |
D295G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,811,416 (GRCm39) |
H157Q |
probably benign |
Het |
| Prss3b |
A |
G |
6: 41,008,681 (GRCm39) |
L211P |
probably damaging |
Het |
| Rbm26 |
C |
T |
14: 105,391,039 (GRCm39) |
R149H |
unknown |
Het |
| Reg3d |
C |
T |
6: 78,355,443 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Rrp36 |
A |
G |
17: 46,978,980 (GRCm39) |
F193L |
possibly damaging |
Het |
| Rtca |
A |
T |
3: 116,282,905 (GRCm39) |
M361K |
probably benign |
Het |
| Ryr3 |
T |
G |
2: 112,491,981 (GRCm39) |
D3790A |
probably damaging |
Het |
| Serpina3n |
C |
A |
12: 104,377,440 (GRCm39) |
A231E |
probably benign |
Het |
| Sh2d2a |
A |
G |
3: 87,759,070 (GRCm39) |
D224G |
possibly damaging |
Het |
| Sh3bp2 |
A |
T |
5: 34,718,377 (GRCm39) |
K526* |
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,069,469 (GRCm39) |
T1017A |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,361,397 (GRCm39) |
L93P |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,195,190 (GRCm39) |
I469T |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,964,728 (GRCm39) |
V95D |
probably damaging |
Het |
| Snap29 |
T |
A |
16: 17,224,163 (GRCm39) |
S59R |
probably damaging |
Het |
| Tmem121b |
T |
A |
6: 120,469,784 (GRCm39) |
Y311F |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,694,000 (GRCm39) |
V199L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,618,721 (GRCm39) |
I16188V |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,216,247 (GRCm39) |
I366T |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,545,463 (GRCm39) |
E1727D |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,182,701 (GRCm39) |
D301G |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
| Vmn2r73 |
T |
G |
7: 85,507,123 (GRCm39) |
I730L |
probably benign |
Het |
| Zfp352 |
A |
T |
4: 90,113,118 (GRCm39) |
K419N |
probably benign |
Het |
| Zfp84 |
C |
A |
7: 29,474,873 (GRCm39) |
S48R |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,386 (GRCm39) |
H429Q |
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 |
|
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 |
|
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'- GTCAGCAGCACTATGGGAAG -3'
(R):5'- CTTTGGAGTATGCTTTCCATAACTG -3'
Sequencing Primer
(F):5'- CAGCACTATGGGAAGCACTTTG -3'
(R):5'- ATAAGGTGCCCGTGACTTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation