Incidental Mutation 'R8863:C2cd5'
ID |
675762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C2cd5
|
Ensembl Gene |
ENSMUSG00000030279 |
Gene Name |
C2 calcium-dependent domain containing 5 |
Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
MMRRC Submission |
068679-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R8863 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142987088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 505
(I505V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204043]
[ENSMUST00000204655]
[ENSMUST00000205119]
|
AlphaFold |
Q7TPS5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087485
AA Change: I505V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000084758 Gene: ENSMUSG00000030279 AA Change: I505V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
1.07e-15 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
low complexity region
|
350 |
359 |
N/A |
INTRINSIC |
internal_repeat_1
|
381 |
453 |
3.98e-5 |
PROSPERO |
low complexity region
|
637 |
653 |
N/A |
INTRINSIC |
internal_repeat_1
|
909 |
984 |
3.98e-5 |
PROSPERO |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111758
AA Change: I505V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107388 Gene: ENSMUSG00000030279 AA Change: I505V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
1.07e-15 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
internal_repeat_1
|
390 |
462 |
1.3e-5 |
PROSPERO |
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
internal_repeat_1
|
935 |
1010 |
1.3e-5 |
PROSPERO |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171349
AA Change: I514V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127834 Gene: ENSMUSG00000030279 AA Change: I514V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
1.07e-15 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
internal_repeat_1
|
390 |
462 |
1.16e-5 |
PROSPERO |
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
internal_repeat_1
|
918 |
993 |
1.16e-5 |
PROSPERO |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203187
AA Change: I514V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145373 Gene: ENSMUSG00000030279 AA Change: I514V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
1.07e-15 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
internal_repeat_1
|
390 |
462 |
1.3e-5 |
PROSPERO |
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
internal_repeat_1
|
935 |
1010 |
1.3e-5 |
PROSPERO |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203673
AA Change: I516V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145425 Gene: ENSMUSG00000030279 AA Change: I516V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
7.3e-18 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
low complexity region
|
361 |
370 |
N/A |
INTRINSIC |
internal_repeat_1
|
392 |
464 |
4.65e-5 |
PROSPERO |
low complexity region
|
648 |
664 |
N/A |
INTRINSIC |
internal_repeat_1
|
971 |
1046 |
4.65e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204043
|
SMART Domains |
Protein: ENSMUSP00000145382 Gene: ENSMUSG00000030279
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204655
AA Change: I514V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145019 Gene: ENSMUSG00000030279 AA Change: I514V
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
1.07e-15 |
SMART |
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
internal_repeat_1
|
390 |
462 |
1.16e-5 |
PROSPERO |
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
internal_repeat_1
|
918 |
993 |
1.16e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205119
|
SMART Domains |
Protein: ENSMUSP00000145397 Gene: ENSMUSG00000030279
Domain | Start | End | E-Value | Type |
Pfam:C2
|
3 |
70 |
5.4e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,836,123 (GRCm39) |
S157P |
possibly damaging |
Het |
Aasdhppt |
C |
A |
9: 4,309,424 (GRCm39) |
A5S |
possibly damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,907,042 (GRCm39) |
L14P |
probably benign |
Het |
Asb16 |
T |
C |
11: 102,168,058 (GRCm39) |
Y373H |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,362,375 (GRCm39) |
S240P |
probably benign |
Het |
Camk2g |
A |
G |
14: 20,810,244 (GRCm39) |
L305P |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,535,211 (GRCm39) |
K156E |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,212,613 (GRCm39) |
Y1600* |
probably null |
Het |
Cyp2c29 |
A |
G |
19: 39,261,810 (GRCm39) |
Q16R |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,774,666 (GRCm39) |
V221E |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,831,006 (GRCm39) |
D73G |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,591,262 (GRCm39) |
E125G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
G |
11: 7,163,568 (GRCm39) |
C75R |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,875,898 (GRCm39) |
C478* |
probably null |
Het |
L3mbtl4 |
T |
A |
17: 68,986,419 (GRCm39) |
C488S |
probably benign |
Het |
Lysmd4 |
T |
C |
7: 66,873,493 (GRCm39) |
S43P |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,962,815 (GRCm39) |
K167E |
probably damaging |
Het |
Mpl |
C |
A |
4: 118,314,602 (GRCm39) |
V23F |
|
Het |
Muc4 |
A |
T |
16: 32,570,280 (GRCm39) |
I447F |
possibly damaging |
Het |
Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
Ncf2 |
A |
G |
1: 152,711,864 (GRCm39) |
*526W |
probably null |
Het |
Oas1a |
C |
T |
5: 121,043,943 (GRCm39) |
G63D |
probably damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,780 (GRCm39) |
Y125F |
probably damaging |
Het |
Or5ac15 |
G |
T |
16: 58,939,712 (GRCm39) |
C240* |
probably null |
Het |
Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,631,383 (GRCm39) |
N409S |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,433,382 (GRCm39) |
Q3421* |
probably null |
Het |
Plekha7 |
T |
A |
7: 115,753,875 (GRCm39) |
D664V |
probably damaging |
Het |
Pole |
T |
C |
5: 110,437,233 (GRCm39) |
M66T |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,265,480 (GRCm39) |
|
probably null |
Het |
Pop4 |
G |
A |
7: 37,962,649 (GRCm39) |
A205V |
possibly damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,521,030 (GRCm39) |
E590D |
probably damaging |
Het |
Ptpn6 |
T |
A |
6: 124,709,309 (GRCm39) |
I96F |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,590 (GRCm39) |
N37K |
probably benign |
Het |
Syne1 |
G |
T |
10: 5,049,527 (GRCm39) |
Q7535K |
probably damaging |
Het |
Tcf15 |
A |
T |
2: 151,986,023 (GRCm39) |
I160F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem160 |
T |
C |
7: 16,186,889 (GRCm39) |
M1T |
probably null |
Het |
Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
Trnt1 |
T |
C |
6: 106,751,443 (GRCm39) |
F140S |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
Vmn1r172 |
A |
T |
7: 23,359,210 (GRCm39) |
I32F |
probably benign |
Het |
Vwc2l |
T |
A |
1: 70,768,063 (GRCm39) |
N42K |
possibly damaging |
Het |
|
Other mutations in C2cd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:C2cd5
|
APN |
6 |
142,963,671 (GRCm39) |
missense |
probably null |
0.99 |
IGL01065:C2cd5
|
APN |
6 |
143,024,005 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01595:C2cd5
|
APN |
6 |
142,963,748 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01654:C2cd5
|
APN |
6 |
143,027,133 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01917:C2cd5
|
APN |
6 |
143,018,322 (GRCm39) |
missense |
probably benign |
|
IGL01966:C2cd5
|
APN |
6 |
142,957,767 (GRCm39) |
nonsense |
probably null |
|
IGL02417:C2cd5
|
APN |
6 |
142,987,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02616:C2cd5
|
APN |
6 |
142,980,837 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02745:C2cd5
|
APN |
6 |
142,987,256 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02819:C2cd5
|
APN |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02926:C2cd5
|
APN |
6 |
142,976,963 (GRCm39) |
splice site |
probably benign |
|
IGL02969:C2cd5
|
APN |
6 |
143,025,669 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03072:C2cd5
|
APN |
6 |
143,025,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03226:C2cd5
|
APN |
6 |
143,018,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
D605:C2cd5
|
UTSW |
6 |
142,975,386 (GRCm39) |
missense |
probably benign |
0.00 |
R0385:C2cd5
|
UTSW |
6 |
142,987,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:C2cd5
|
UTSW |
6 |
142,957,819 (GRCm39) |
missense |
probably benign |
0.00 |
R0644:C2cd5
|
UTSW |
6 |
142,958,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R0723:C2cd5
|
UTSW |
6 |
142,987,281 (GRCm39) |
splice site |
probably benign |
|
R0740:C2cd5
|
UTSW |
6 |
142,981,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1395:C2cd5
|
UTSW |
6 |
143,007,464 (GRCm39) |
splice site |
probably benign |
|
R1475:C2cd5
|
UTSW |
6 |
143,018,298 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1494:C2cd5
|
UTSW |
6 |
142,987,072 (GRCm39) |
splice site |
probably benign |
|
R1645:C2cd5
|
UTSW |
6 |
142,995,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:C2cd5
|
UTSW |
6 |
142,958,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R2253:C2cd5
|
UTSW |
6 |
142,982,042 (GRCm39) |
nonsense |
probably null |
|
R3934:C2cd5
|
UTSW |
6 |
142,987,106 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4065:C2cd5
|
UTSW |
6 |
143,019,397 (GRCm39) |
missense |
probably benign |
|
R4654:C2cd5
|
UTSW |
6 |
142,975,910 (GRCm39) |
missense |
probably benign |
0.00 |
R4691:C2cd5
|
UTSW |
6 |
142,975,874 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4972:C2cd5
|
UTSW |
6 |
142,958,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R5302:C2cd5
|
UTSW |
6 |
143,019,482 (GRCm39) |
missense |
probably benign |
0.02 |
R5362:C2cd5
|
UTSW |
6 |
143,028,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R5604:C2cd5
|
UTSW |
6 |
142,957,747 (GRCm39) |
missense |
probably benign |
0.44 |
R6139:C2cd5
|
UTSW |
6 |
142,980,784 (GRCm39) |
missense |
probably damaging |
0.97 |
R6165:C2cd5
|
UTSW |
6 |
142,995,954 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6567:C2cd5
|
UTSW |
6 |
142,976,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6600:C2cd5
|
UTSW |
6 |
143,025,702 (GRCm39) |
missense |
probably damaging |
0.99 |
R6821:C2cd5
|
UTSW |
6 |
142,963,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:C2cd5
|
UTSW |
6 |
142,975,364 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7153:C2cd5
|
UTSW |
6 |
142,965,135 (GRCm39) |
missense |
probably benign |
0.04 |
R7689:C2cd5
|
UTSW |
6 |
142,995,951 (GRCm39) |
nonsense |
probably null |
|
R8027:C2cd5
|
UTSW |
6 |
143,024,046 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8461:C2cd5
|
UTSW |
6 |
142,980,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R8852:C2cd5
|
UTSW |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
R8860:C2cd5
|
UTSW |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
R9238:C2cd5
|
UTSW |
6 |
143,027,127 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9320:C2cd5
|
UTSW |
6 |
142,977,019 (GRCm39) |
nonsense |
probably null |
|
R9758:C2cd5
|
UTSW |
6 |
142,984,613 (GRCm39) |
missense |
probably benign |
0.03 |
X0013:C2cd5
|
UTSW |
6 |
143,012,808 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:C2cd5
|
UTSW |
6 |
142,974,932 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTGCGTACAAACTTGAGTG -3'
(R):5'- ACCCTGATCAGAGTGCCTTCTTAC -3'
Sequencing Primer
(F):5'- GTGCGTACAAACTTGAGTGTTATAG -3'
(R):5'- TAGGATTGAAGAGAATTTACCGGTG -3'
|
Posted On |
2021-07-15 |