Incidental Mutation 'R4479:Chp2'
| ID |
331400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chp2
|
| Ensembl Gene |
ENSMUSG00000030865 |
| Gene Name |
calcineurin-like EF hand protein 2 |
| Synonyms |
Cbhp2, 2010110P09Rik |
| MMRRC Submission |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121818719-121822047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121820141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033152]
|
| AlphaFold |
Q9D869 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033152
AA Change: D97G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033152
Gene: ENSMUSG00000030865
AA Change: D97G
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
30 |
58 |
1.02e2 |
SMART |
|
EFh
|
115 |
143 |
3.22e-5 |
SMART |
|
EFh
|
156 |
184 |
8.02e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160828
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
lanelin
|
UTSW |
7 |
121,821,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0023:Chp2
|
UTSW |
7 |
121,821,361 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4420:Chp2
|
UTSW |
7 |
121,821,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Chp2
|
UTSW |
7 |
121,820,141 (GRCm39) |
missense |
probably benign |
|
|
R4815:Chp2
|
UTSW |
7 |
121,820,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Chp2
|
UTSW |
7 |
121,819,917 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6999:Chp2
|
UTSW |
7 |
121,821,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Chp2
|
UTSW |
7 |
121,821,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Chp2
|
UTSW |
7 |
121,820,084 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACAGCTTCTTCCCCAACG -3'
(R):5'- CATAGAGCTGAAATGCAACTGG -3'
Sequencing Primer
(F):5'- CAACGGGTGAAGTCTCTACTG -3'
(R):5'- GCTGAAATGCAACTGGGAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation