Incidental Mutation 'R8061:Ncapg2'
| ID |
619727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncapg2
|
| Ensembl Gene |
ENSMUSG00000042029 |
| Gene Name |
non-SMC condensin II complex, subunit G2 |
| Synonyms |
5830426I05Rik, Mtb, mCAP-G2, Luzp5 |
| MMRRC Submission |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116390197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 382
(N382S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084828
AA Change: N382S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: N382S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
G |
A |
5: 115,255,710 (GRCm39) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,263,411 (GRCm39) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,408 (GRCm39) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,747,456 (GRCm39) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,728,982 (GRCm39) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,948,447 (GRCm39) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,331,920 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,300 (GRCm39) |
M1770K |
possibly damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,853,527 (GRCm39) |
|
probably benign |
Het |
| Cfap300 |
A |
G |
9: 8,042,672 (GRCm39) |
W37R |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,656,518 (GRCm39) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,491,655 (GRCm39) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,040 (GRCm39) |
Y100C |
probably benign |
Het |
| Cyria |
G |
T |
12: 12,412,028 (GRCm39) |
A150S |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,981 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,669,077 (GRCm39) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 182,869,151 (GRCm39) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,058 (GRCm39) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,374,052 (GRCm39) |
T566I |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,403,246 (GRCm39) |
M18R |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,546,884 (GRCm39) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,997,275 (GRCm39) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,124,903 (GRCm39) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,180,725 (GRCm39) |
W301* |
probably null |
Het |
| Fpgt |
A |
G |
3: 154,792,903 (GRCm39) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,011,785 (GRCm39) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,311,077 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,751,851 (GRCm39) |
C1412S |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,224 (GRCm39) |
E139G |
probably benign |
Het |
| Klhl2 |
A |
C |
8: 65,211,257 (GRCm39) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,288,562 (GRCm39) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,612 (GRCm39) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,663,938 (GRCm39) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,410,240 (GRCm39) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,970,259 (GRCm39) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,398 (GRCm39) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,030,239 (GRCm39) |
Y119* |
probably null |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,792 (GRCm39) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,256,461 (GRCm39) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,956,297 (GRCm39) |
S13P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,179 (GRCm39) |
D413G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,188,316 (GRCm39) |
Y803F |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,380,162 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,382,660 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,330 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,659,401 (GRCm39) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm39) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,522,938 (GRCm39) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,088,077 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,018,361 (GRCm39) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,965,419 (GRCm39) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,751,610 (GRCm39) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,364,184 (GRCm39) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,762 (GRCm39) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,501,663 (GRCm39) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,469,064 (GRCm39) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,523,404 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,409 (GRCm39) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,579,453 (GRCm39) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,174,692 (GRCm39) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,434,893 (GRCm39) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,109,665 (GRCm39) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,793,573 (GRCm39) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,340 (GRCm39) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,208 (GRCm39) |
T674A |
probably benign |
Het |
|
| Other mutations in Ncapg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Ncapg2
|
APN |
12 |
116,388,270 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01694:Ncapg2
|
APN |
12 |
116,370,850 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01724:Ncapg2
|
APN |
12 |
116,390,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01792:Ncapg2
|
APN |
12 |
116,389,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02098:Ncapg2
|
APN |
12 |
116,407,952 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02136:Ncapg2
|
APN |
12 |
116,424,203 (GRCm39) |
missense |
probably benign |
|
|
IGL02409:Ncapg2
|
APN |
12 |
116,384,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02580:Ncapg2
|
APN |
12 |
116,384,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Ncapg2
|
APN |
12 |
116,389,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03073:Ncapg2
|
APN |
12 |
116,415,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03114:Ncapg2
|
APN |
12 |
116,415,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL03199:Ncapg2
|
APN |
12 |
116,382,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Ncapg2
|
APN |
12 |
116,403,677 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
P0033:Ncapg2
|
UTSW |
12 |
116,402,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0008:Ncapg2
|
UTSW |
12 |
116,393,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Ncapg2
|
UTSW |
12 |
116,384,303 (GRCm39) |
splice site |
probably null |
|
|
R0379:Ncapg2
|
UTSW |
12 |
116,406,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Ncapg2
|
UTSW |
12 |
116,386,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Ncapg2
|
UTSW |
12 |
116,376,779 (GRCm39) |
nonsense |
probably null |
|
|
R1016:Ncapg2
|
UTSW |
12 |
116,402,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Ncapg2
|
UTSW |
12 |
116,424,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1524:Ncapg2
|
UTSW |
12 |
116,398,198 (GRCm39) |
splice site |
probably benign |
|
|
R1596:Ncapg2
|
UTSW |
12 |
116,382,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Ncapg2
|
UTSW |
12 |
116,398,305 (GRCm39) |
frame shift |
probably null |
|
|
R1752:Ncapg2
|
UTSW |
12 |
116,390,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Ncapg2
|
UTSW |
12 |
116,414,095 (GRCm39) |
splice site |
probably null |
|
|
R2266:Ncapg2
|
UTSW |
12 |
116,393,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Ncapg2
|
UTSW |
12 |
116,384,349 (GRCm39) |
nonsense |
probably null |
|
|
R2924:Ncapg2
|
UTSW |
12 |
116,402,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2925:Ncapg2
|
UTSW |
12 |
116,402,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3828:Ncapg2
|
UTSW |
12 |
116,370,938 (GRCm39) |
splice site |
probably benign |
|
|
R3829:Ncapg2
|
UTSW |
12 |
116,370,938 (GRCm39) |
splice site |
probably benign |
|
|
R4384:Ncapg2
|
UTSW |
12 |
116,403,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4651:Ncapg2
|
UTSW |
12 |
116,389,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Ncapg2
|
UTSW |
12 |
116,404,238 (GRCm39) |
missense |
probably benign |
|
|
R4821:Ncapg2
|
UTSW |
12 |
116,379,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4845:Ncapg2
|
UTSW |
12 |
116,404,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5135:Ncapg2
|
UTSW |
12 |
116,391,406 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5294:Ncapg2
|
UTSW |
12 |
116,391,414 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5334:Ncapg2
|
UTSW |
12 |
116,390,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Ncapg2
|
UTSW |
12 |
116,376,697 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5888:Ncapg2
|
UTSW |
12 |
116,389,420 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5938:Ncapg2
|
UTSW |
12 |
116,393,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Ncapg2
|
UTSW |
12 |
116,388,291 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6016:Ncapg2
|
UTSW |
12 |
116,390,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Ncapg2
|
UTSW |
12 |
116,406,641 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6155:Ncapg2
|
UTSW |
12 |
116,401,631 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6509:Ncapg2
|
UTSW |
12 |
116,391,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Ncapg2
|
UTSW |
12 |
116,398,281 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6912:Ncapg2
|
UTSW |
12 |
116,390,202 (GRCm39) |
missense |
probably benign |
|
|
R7069:Ncapg2
|
UTSW |
12 |
116,388,337 (GRCm39) |
splice site |
probably null |
|
|
R7339:Ncapg2
|
UTSW |
12 |
116,378,454 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7440:Ncapg2
|
UTSW |
12 |
116,414,033 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7445:Ncapg2
|
UTSW |
12 |
116,382,888 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7704:Ncapg2
|
UTSW |
12 |
116,382,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Ncapg2
|
UTSW |
12 |
116,407,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8166:Ncapg2
|
UTSW |
12 |
116,376,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Ncapg2
|
UTSW |
12 |
116,403,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8526:Ncapg2
|
UTSW |
12 |
116,403,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8692:Ncapg2
|
UTSW |
12 |
116,414,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Ncapg2
|
UTSW |
12 |
116,379,098 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8766:Ncapg2
|
UTSW |
12 |
116,390,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Ncapg2
|
UTSW |
12 |
116,415,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Ncapg2
|
UTSW |
12 |
116,376,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9187:Ncapg2
|
UTSW |
12 |
116,402,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Ncapg2
|
UTSW |
12 |
116,388,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Ncapg2
|
UTSW |
12 |
116,370,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9580:Ncapg2
|
UTSW |
12 |
116,424,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9634:Ncapg2
|
UTSW |
12 |
116,379,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9749:Ncapg2
|
UTSW |
12 |
116,411,368 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Ncapg2
|
UTSW |
12 |
116,388,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ncapg2
|
UTSW |
12 |
116,402,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCCTGGATCTATCTAGTCC -3'
(R):5'- CAGTGTCATTTTGTCCACTGAG -3'
Sequencing Primer
(F):5'- TCTAGTCCCCTTCAAAATACCTAGAG -3'
(R):5'- TCATTTTGTCCACTGAGTAGGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation