Incidental Mutation 'R5850:Cnn3'
| ID |
454608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnn3
|
| Ensembl Gene |
ENSMUSG00000053931 |
| Gene Name |
calponin 3, acidic |
| Synonyms |
1600014M03Rik, Calpo3 |
| MMRRC Submission |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121220190-121251854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121245577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 98
(Y98H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029773]
[ENSMUST00000197135]
[ENSMUST00000198393]
|
| AlphaFold |
Q9DAW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029773
AA Change: Y144H
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931
AA Change: Y144H
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
125 |
3.92e-27 |
SMART |
|
Pfam:Calponin
|
164 |
188 |
1.1e-19 |
PFAM |
|
Pfam:Calponin
|
204 |
228 |
7.4e-17 |
PFAM |
|
Pfam:Calponin
|
243 |
267 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196671
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197135
AA Change: Y98H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931
AA Change: Y98H
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
120 |
8.6e-10 |
SMART |
|
Pfam:Calponin
|
158 |
183 |
1e-10 |
PFAM |
|
Pfam:Calponin
|
197 |
222 |
9.6e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198393
AA Change: Y47H
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931
AA Change: Y47H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CH
|
1 |
28 |
7e-12 |
BLAST |
|
SCOP:d1h67a_
|
1 |
35 |
9e-9 |
SMART |
|
PDB:1WYN|A
|
1 |
53 |
3e-21 |
PDB |
|
Pfam:Calponin
|
67 |
92 |
1.2e-14 |
PFAM |
|
Pfam:Calponin
|
107 |
132 |
3.8e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199188
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe exencephaly, neuronal tissue overgrowth and die immediately postnatal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Cnn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02900:Cnn3
|
APN |
3 |
121,245,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB009:Cnn3
|
UTSW |
3 |
121,245,078 (GRCm39) |
missense |
probably benign |
0.15 |
|
BB019:Cnn3
|
UTSW |
3 |
121,245,078 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0711:Cnn3
|
UTSW |
3 |
121,243,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0811:Cnn3
|
UTSW |
3 |
121,248,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Cnn3
|
UTSW |
3 |
121,248,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1368:Cnn3
|
UTSW |
3 |
121,250,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1567:Cnn3
|
UTSW |
3 |
121,243,607 (GRCm39) |
nonsense |
probably null |
|
|
R1675:Cnn3
|
UTSW |
3 |
121,250,818 (GRCm39) |
nonsense |
probably null |
|
|
R2132:Cnn3
|
UTSW |
3 |
121,245,584 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2851:Cnn3
|
UTSW |
3 |
121,243,702 (GRCm39) |
start gained |
probably benign |
|
|
R6936:Cnn3
|
UTSW |
3 |
121,243,702 (GRCm39) |
start gained |
probably benign |
|
|
R7196:Cnn3
|
UTSW |
3 |
121,248,437 (GRCm39) |
splice site |
probably null |
|
|
R7851:Cnn3
|
UTSW |
3 |
121,250,992 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7866:Cnn3
|
UTSW |
3 |
121,245,042 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7867:Cnn3
|
UTSW |
3 |
121,248,704 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7932:Cnn3
|
UTSW |
3 |
121,245,078 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8139:Cnn3
|
UTSW |
3 |
121,248,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Cnn3
|
UTSW |
3 |
121,243,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGACATGAGCTCACCGTC -3'
(R):5'- GTCAAGCTGGATGACATAACTG -3'
Sequencing Primer
(F):5'- TCACCGTCAAGGCTGTCTGTG -3'
(R):5'- CTTGAACTCATATGTAGCCCAGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation