Incidental Mutation 'R0313:Cc2d1a'
| ID |
25338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d1a
|
| Ensembl Gene |
ENSMUSG00000036686 |
| Gene Name |
coiled-coil and C2 domain containing 1A |
| Synonyms |
Tape, Freud-1 |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.481)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84859457-84874546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84863598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 542
(T542I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040383]
[ENSMUST00000093380]
[ENSMUST00000117424]
|
| AlphaFold |
Q8K1A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040383
AA Change: T588I
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: T588I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
|
DM14
|
137 |
194 |
1.02e-14 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
238 |
N/A |
INTRINSIC |
|
DM14
|
250 |
308 |
8.7e-23 |
SMART |
|
DM14
|
342 |
400 |
7.44e-31 |
SMART |
|
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
|
DM14
|
487 |
545 |
4.62e-27 |
SMART |
|
C2
|
649 |
763 |
5.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093380
|
| SMART Domains |
Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRRNT
|
38 |
71 |
1.91e0 |
SMART |
|
LRR
|
70 |
89 |
1.81e2 |
SMART |
|
LRR
|
90 |
115 |
1.76e-1 |
SMART |
|
LRR
|
116 |
139 |
1.19e2 |
SMART |
|
LRR
|
162 |
186 |
1.06e1 |
SMART |
|
LRR
|
191 |
210 |
5.42e1 |
SMART |
|
LRR
|
211 |
231 |
1.66e1 |
SMART |
|
LRR
|
233 |
257 |
3.98e1 |
SMART |
|
LRR_TYP
|
258 |
281 |
7.9e-4 |
SMART |
|
LRR
|
304 |
328 |
9.24e1 |
SMART |
|
LRR_TYP
|
329 |
352 |
4.72e-2 |
SMART |
|
LRR
|
375 |
399 |
2.61e2 |
SMART |
|
LRR_TYP
|
400 |
423 |
2.61e-4 |
SMART |
|
LRR
|
424 |
444 |
3.18e1 |
SMART |
|
LRR
|
445 |
470 |
3.27e1 |
SMART |
|
LRR_TYP
|
471 |
494 |
3.63e-3 |
SMART |
|
LRR
|
495 |
515 |
1.97e1 |
SMART |
|
LRR
|
516 |
541 |
2.03e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117424
AA Change: T542I
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: T542I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
DM14
|
205 |
263 |
8.7e-23 |
SMART |
|
DM14
|
297 |
355 |
7.44e-31 |
SMART |
|
low complexity region
|
411 |
432 |
N/A |
INTRINSIC |
|
DM14
|
441 |
499 |
4.62e-27 |
SMART |
|
C2
|
603 |
717 |
5.08e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154029
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
| Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
| Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cc2d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Cc2d1a
|
APN |
8 |
84,866,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01126:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01129:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01133:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01135:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01953:Cc2d1a
|
APN |
8 |
84,870,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02216:Cc2d1a
|
APN |
8 |
84,865,942 (GRCm39) |
nonsense |
probably null |
|
|
IGL03131:Cc2d1a
|
APN |
8 |
84,870,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03268:Cc2d1a
|
APN |
8 |
84,860,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Cc2d1a
|
APN |
8 |
84,861,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
Rye
|
UTSW |
8 |
84,861,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Taragon
|
UTSW |
8 |
84,865,166 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0811:Cc2d1a
|
UTSW |
8 |
84,860,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0812:Cc2d1a
|
UTSW |
8 |
84,860,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0893:Cc2d1a
|
UTSW |
8 |
84,867,468 (GRCm39) |
splice site |
probably benign |
|
|
R1440:Cc2d1a
|
UTSW |
8 |
84,860,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1625:Cc2d1a
|
UTSW |
8 |
84,866,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2183:Cc2d1a
|
UTSW |
8 |
84,867,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Cc2d1a
|
UTSW |
8 |
84,867,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Cc2d1a
|
UTSW |
8 |
84,860,132 (GRCm39) |
nonsense |
probably null |
|
|
R6046:Cc2d1a
|
UTSW |
8 |
84,863,571 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6386:Cc2d1a
|
UTSW |
8 |
84,865,166 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6956:Cc2d1a
|
UTSW |
8 |
84,862,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Cc2d1a
|
UTSW |
8 |
84,861,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Cc2d1a
|
UTSW |
8 |
84,862,389 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7396:Cc2d1a
|
UTSW |
8 |
84,870,374 (GRCm39) |
splice site |
probably null |
|
|
R7456:Cc2d1a
|
UTSW |
8 |
84,866,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7787:Cc2d1a
|
UTSW |
8 |
84,860,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8507:Cc2d1a
|
UTSW |
8 |
84,861,605 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8808:Cc2d1a
|
UTSW |
8 |
84,861,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Cc2d1a
|
UTSW |
8 |
84,870,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9563:Cc2d1a
|
UTSW |
8 |
84,863,758 (GRCm39) |
missense |
probably benign |
0.14 |
|
RF007:Cc2d1a
|
UTSW |
8 |
84,861,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGGTGTCCATGCTCCGCTTAC -3'
(R):5'- GAGCTGTACCTGCCAACTTCATCC -3'
Sequencing Primer
(F):5'- CGCTTACAGTCTTCTGCCAG -3'
(R):5'- CTGTCAACAAGGACGACTTTGTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation