Incidental Mutation 'R1018:Cnn2'
| ID |
226016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnn2
|
| Ensembl Gene |
ENSMUSG00000004665 |
| Gene Name |
calponin 2 |
| Synonyms |
Calpo2, h2-calponin |
| MMRRC Submission |
039122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R1018 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79824434-79831234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79829397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 176
(C176R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004784]
[ENSMUST00000043866]
[ENSMUST00000105374]
[ENSMUST00000132517]
[ENSMUST00000171637]
|
| AlphaFold |
Q08093 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004784
AA Change: C215R
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004784
Gene: ENSMUSG00000004665
AA Change: C215R
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
30 |
127 |
1.82e-22 |
SMART |
|
Pfam:Calponin
|
166 |
190 |
6e-20 |
PFAM |
|
Pfam:Calponin
|
206 |
230 |
6e-20 |
PFAM |
|
Pfam:Calponin
|
245 |
268 |
2.6e-10 |
PFAM |
|
low complexity region
|
276 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043866
|
| SMART Domains |
Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
515 |
747 |
1.1e-17 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1241 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1390 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1427 |
1764 |
9e-43 |
PFAM |
|
AAA
|
1833 |
2018 |
7.2e-9 |
SMART |
|
low complexity region
|
2120 |
2135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105374
AA Change: C176R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101013
Gene: ENSMUSG00000004665
AA Change: C176R
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
30 |
127 |
1.82e-22 |
SMART |
|
Pfam:Calponin
|
130 |
152 |
7.6e-15 |
PFAM |
|
Pfam:Calponin
|
167 |
192 |
4.1e-16 |
PFAM |
|
Pfam:Calponin
|
206 |
230 |
6.4e-15 |
PFAM |
|
low complexity region
|
237 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132517
|
| SMART Domains |
Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
515 |
747 |
1.1e-17 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1241 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1390 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1427 |
1764 |
9e-43 |
PFAM |
|
AAA
|
1833 |
2018 |
7.2e-9 |
SMART |
|
low complexity region
|
2120 |
2135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171637
|
| SMART Domains |
Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
517 |
747 |
2.8e-19 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1249 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1317 |
N/A |
INTRINSIC |
|
low complexity region
|
1382 |
1398 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1426 |
1772 |
3.9e-47 |
PFAM |
|
AAA
|
1841 |
2026 |
7.2e-9 |
SMART |
|
low complexity region
|
2128 |
2143 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6404 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for either a knock-out or a knock-down allele have reduced numbers of peripheral blood neutrophils and monocytes. Knock-out mice show increased macrophage proliferation, motility and phagocytosis, faster diapedesis of peripheral monocytesand neutrophils, and enhanced wound healing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
| Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,596,876 (GRCm39) |
|
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
| Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
| Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,228,126 (GRCm39) |
Q552L |
probably benign |
Het |
| Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
| Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,599,583 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
| P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
| Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,589,589 (GRCm39) |
C601F |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,122,185 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
| Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
| Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
| Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
| Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
| Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
probably damaging |
Het |
|
| Other mutations in Cnn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01941:Cnn2
|
APN |
10 |
79,828,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02715:Cnn2
|
APN |
10 |
79,829,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Cnn2
|
UTSW |
10 |
79,829,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Cnn2
|
UTSW |
10 |
79,829,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Cnn2
|
UTSW |
10 |
79,829,359 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1346:Cnn2
|
UTSW |
10 |
79,829,414 (GRCm39) |
unclassified |
probably benign |
|
|
R2302:Cnn2
|
UTSW |
10 |
79,827,233 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3802:Cnn2
|
UTSW |
10 |
79,829,329 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4452:Cnn2
|
UTSW |
10 |
79,827,276 (GRCm39) |
missense |
probably benign |
|
|
R6166:Cnn2
|
UTSW |
10 |
79,824,561 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7156:Cnn2
|
UTSW |
10 |
79,830,349 (GRCm39) |
nonsense |
probably null |
|
|
R7465:Cnn2
|
UTSW |
10 |
79,828,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Cnn2
|
UTSW |
10 |
79,829,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Cnn2
|
UTSW |
10 |
79,828,293 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9210:Cnn2
|
UTSW |
10 |
79,828,373 (GRCm39) |
missense |
probably benign |
|
|
X0025:Cnn2
|
UTSW |
10 |
79,828,112 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0064:Cnn2
|
UTSW |
10 |
79,830,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAACTTTGACGACGCCAC -3'
(R):5'- ACTATCTCCTTCTGAGGTCCCCAAAAC -3'
Sequencing Primer
(F):5'- AAGGTTTGGAGCCTGCC -3'
(R):5'- GAGGTCCCCAAAACCTCAGTG -3'
|
| Posted On |
2014-09-05 |
Incidental Mutation