Incidental Mutation 'R5348:Cux2'
| ID |
422728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cux2
|
| Ensembl Gene |
ENSMUSG00000042589 |
| Gene Name |
cut-like homeobox 2 |
| Synonyms |
1700051K22Rik, ENSMUSG00000072641, Cutl2, Cux2, Cux-2 |
| MMRRC Submission |
042927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
R5348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121996025-122188522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122004041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1032
(S1032P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086317]
[ENSMUST00000111752]
[ENSMUST00000168288]
|
| AlphaFold |
P70298 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086317
AA Change: S1032P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: S1032P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
133 |
214 |
N/A |
INTRINSIC |
|
coiled coil region
|
235 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
CUT
|
484 |
569 |
7.62e-34 |
SMART |
|
coiled coil region
|
626 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
757 |
N/A |
INTRINSIC |
|
CUT
|
829 |
917 |
6.52e-42 |
SMART |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
CUT
|
984 |
1070 |
1.12e-40 |
SMART |
|
HOX
|
1113 |
1175 |
7.54e-13 |
SMART |
|
low complexity region
|
1318 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111752
AA Change: S1032P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: S1032P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
133 |
214 |
N/A |
INTRINSIC |
|
coiled coil region
|
235 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
CUT
|
484 |
569 |
7.62e-34 |
SMART |
|
coiled coil region
|
626 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
757 |
N/A |
INTRINSIC |
|
CUT
|
829 |
917 |
6.52e-42 |
SMART |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
CUT
|
984 |
1070 |
1.12e-40 |
SMART |
|
HOX
|
1113 |
1175 |
7.54e-13 |
SMART |
|
low complexity region
|
1318 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168288
AA Change: S1032P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: S1032P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
133 |
214 |
N/A |
INTRINSIC |
|
coiled coil region
|
235 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
CUT
|
484 |
569 |
7.62e-34 |
SMART |
|
coiled coil region
|
626 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
757 |
N/A |
INTRINSIC |
|
CUT
|
829 |
917 |
6.52e-42 |
SMART |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
CUT
|
984 |
1070 |
1.12e-40 |
SMART |
|
HOX
|
1113 |
1175 |
7.54e-13 |
SMART |
|
low complexity region
|
1318 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197179
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of the Cut family of transcription factors that have multiple DNA binding domains and regulate cell proliferation and differentiation. This gene is primarily expressed in nervous tissues where it controls the proliferation of neuronal precursors, and may play a role in organogenesis earlier during embryonic development. Mice lacking the encoded protein exhibit smaller spinal cords with deficits in neural progenitor development as well as in neuroblast and interneuron differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various neural defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
| Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
| Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
| Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
| Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
| Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
| Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
| Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
| Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably damaging |
Het |
|
| Other mutations in Cux2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Cux2
|
APN |
5 |
122,006,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00917:Cux2
|
APN |
5 |
122,007,168 (GRCm39) |
missense |
probably null |
0.05 |
|
IGL00979:Cux2
|
APN |
5 |
122,011,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01069:Cux2
|
APN |
5 |
122,005,414 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01303:Cux2
|
APN |
5 |
122,003,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01583:Cux2
|
APN |
5 |
122,012,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01762:Cux2
|
APN |
5 |
122,011,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Cux2
|
APN |
5 |
121,998,885 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0333:Cux2
|
UTSW |
5 |
121,998,671 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0352:Cux2
|
UTSW |
5 |
122,022,802 (GRCm39) |
splice site |
probably benign |
|
|
R0443:Cux2
|
UTSW |
5 |
122,025,500 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1853:Cux2
|
UTSW |
5 |
122,007,184 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2011:Cux2
|
UTSW |
5 |
121,999,389 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2057:Cux2
|
UTSW |
5 |
122,007,567 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2165:Cux2
|
UTSW |
5 |
122,025,540 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3964:Cux2
|
UTSW |
5 |
122,025,539 (GRCm39) |
nonsense |
probably null |
|
|
R4182:Cux2
|
UTSW |
5 |
122,006,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Cux2
|
UTSW |
5 |
121,998,716 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4655:Cux2
|
UTSW |
5 |
122,023,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4673:Cux2
|
UTSW |
5 |
122,025,539 (GRCm39) |
nonsense |
probably null |
|
|
R4697:Cux2
|
UTSW |
5 |
122,011,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Cux2
|
UTSW |
5 |
122,015,152 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6208:Cux2
|
UTSW |
5 |
121,998,885 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6500:Cux2
|
UTSW |
5 |
122,002,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6661:Cux2
|
UTSW |
5 |
122,007,360 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6986:Cux2
|
UTSW |
5 |
122,006,642 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7296:Cux2
|
UTSW |
5 |
121,999,319 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7561:Cux2
|
UTSW |
5 |
122,017,931 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7702:Cux2
|
UTSW |
5 |
122,006,648 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7705:Cux2
|
UTSW |
5 |
122,007,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7791:Cux2
|
UTSW |
5 |
122,005,162 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7998:Cux2
|
UTSW |
5 |
122,006,648 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8081:Cux2
|
UTSW |
5 |
122,007,519 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8096:Cux2
|
UTSW |
5 |
122,007,160 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8191:Cux2
|
UTSW |
5 |
122,012,217 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8794:Cux2
|
UTSW |
5 |
122,007,306 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8957:Cux2
|
UTSW |
5 |
121,999,011 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9601:Cux2
|
UTSW |
5 |
122,025,461 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9749:Cux2
|
UTSW |
5 |
122,007,780 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9765:Cux2
|
UTSW |
5 |
122,007,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Cux2
|
UTSW |
5 |
122,022,814 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Cux2
|
UTSW |
5 |
122,023,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Cux2
|
UTSW |
5 |
122,011,876 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cux2
|
UTSW |
5 |
122,015,192 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Cux2
|
UTSW |
5 |
122,011,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTGGATTGTTGCCAGCCAG -3'
(R):5'- TCTGTGTCACTGACTGTCCAG -3'
Sequencing Primer
(F):5'- TGCCAGCCAGGGGTCTTTG -3'
(R):5'- ACTGACTGTCCAGTGCCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation