Incidental Mutation 'R1080:Nck2'
| ID |
85811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nck2
|
| Ensembl Gene |
ENSMUSG00000066877 |
| Gene Name |
non-catalytic region of tyrosine kinase adaptor protein 2 |
| Synonyms |
4833426I10Rik, NCKbeta, Grb4 |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
43484643-43609678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43572741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 5
(V5A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086421]
[ENSMUST00000187435]
[ENSMUST00000202540]
|
| AlphaFold |
O55033 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086421
AA Change: V5A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
7.06e-17 |
SMART |
|
SH3
|
114 |
169 |
8.56e-16 |
SMART |
|
SH3
|
198 |
256 |
2.09e-19 |
SMART |
|
SH2
|
283 |
365 |
2.86e-28 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114744
AA Change: V4A
|
| SMART Domains |
Protein: ENSMUSP00000110392
Gene: ENSMUSG00000066877
AA Change: V4A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
7.06e-17 |
SMART |
|
SH3
|
114 |
169 |
8.56e-16 |
SMART |
|
SH3
|
198 |
256 |
2.09e-19 |
SMART |
|
SH2
|
283 |
365 |
2.86e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187435
AA Change: V5A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202540
AA Change: V5A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144224
Gene: ENSMUSG00000066877
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
4.3e-19 |
SMART |
|
PDB:2CUB|A
|
106 |
142 |
4e-13 |
PDB |
|
Blast:SH3
|
114 |
142 |
3e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Nck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
wake
|
UTSW |
1 |
43,593,420 (GRCm39) |
missense |
probably benign |
|
|
R0420:Nck2
|
UTSW |
1 |
43,593,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Nck2
|
UTSW |
1 |
43,572,728 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R0538:Nck2
|
UTSW |
1 |
43,608,304 (GRCm39) |
splice site |
probably benign |
|
|
R2509:Nck2
|
UTSW |
1 |
43,593,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Nck2
|
UTSW |
1 |
43,593,251 (GRCm39) |
missense |
probably benign |
|
|
R4923:Nck2
|
UTSW |
1 |
43,500,231 (GRCm39) |
intron |
probably benign |
|
|
R5425:Nck2
|
UTSW |
1 |
43,593,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6175:Nck2
|
UTSW |
1 |
43,572,729 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R6683:Nck2
|
UTSW |
1 |
43,608,338 (GRCm39) |
missense |
probably benign |
|
|
R6859:Nck2
|
UTSW |
1 |
43,593,511 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7514:Nck2
|
UTSW |
1 |
43,608,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Nck2
|
UTSW |
1 |
43,593,420 (GRCm39) |
missense |
probably benign |
|
|
R8278:Nck2
|
UTSW |
1 |
43,593,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Nck2
|
UTSW |
1 |
43,593,510 (GRCm39) |
missense |
|
|
|
R9063:Nck2
|
UTSW |
1 |
43,593,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9559:Nck2
|
UTSW |
1 |
43,593,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Nck2
|
UTSW |
1 |
43,572,892 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Nck2
|
UTSW |
1 |
43,593,543 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Nck2
|
UTSW |
1 |
43,593,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGGTAGGTCATTCTAAGGGCAAG -3'
(R):5'- CAACAGTGCTATCCCGAGTGTTCC -3'
Sequencing Primer
(F):5'- AGTGCTTCAAGGGGCTGG -3'
(R):5'- GTATGGACACTCACCTAGTGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation