Incidental Mutation 'R4297:Creld2'
| ID |
323398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld2
|
| Ensembl Gene |
ENSMUSG00000023272 |
| Gene Name |
cysteine-rich with EGF-like domains 2 |
| Synonyms |
5730592L21Rik |
| MMRRC Submission |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88703849-88710884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88707956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 232
(C232R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024042]
[ENSMUST00000043087]
[ENSMUST00000159328]
[ENSMUST00000162183]
|
| AlphaFold |
Q9CYA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024042
AA Change: C232R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: C232R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
28 |
86 |
1.3e-7 |
PFAM |
|
low complexity region
|
90 |
100 |
N/A |
INTRINSIC |
|
EGF
|
137 |
176 |
3.76e-1 |
SMART |
|
FU
|
191 |
238 |
1.2e-7 |
SMART |
|
EGF_like
|
228 |
273 |
1.76e-3 |
SMART |
|
FU
|
251 |
298 |
5.08e-6 |
SMART |
|
EGF_CA
|
288 |
329 |
3.17e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043087
|
| SMART Domains |
Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
267 |
4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159328
|
| SMART Domains |
Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
169 |
6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162183
|
| SMART Domains |
Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
406 |
3.3e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.9736 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
probably benign |
Het |
|
| Other mutations in Creld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0510:Creld2
|
UTSW |
15 |
88,704,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1163:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1164:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1206:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1207:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1207:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1457:Creld2
|
UTSW |
15 |
88,707,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R1915:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R2105:Creld2
|
UTSW |
15 |
88,704,834 (GRCm39) |
nonsense |
probably null |
|
|
R5843:Creld2
|
UTSW |
15 |
88,710,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Creld2
|
UTSW |
15 |
88,707,969 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6402:Creld2
|
UTSW |
15 |
88,707,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6454:Creld2
|
UTSW |
15 |
88,707,274 (GRCm39) |
nonsense |
probably null |
|
|
R6543:Creld2
|
UTSW |
15 |
88,709,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6808:Creld2
|
UTSW |
15 |
88,709,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Creld2
|
UTSW |
15 |
88,704,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Creld2
|
UTSW |
15 |
88,710,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8058:Creld2
|
UTSW |
15 |
88,710,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAAGCTGGTCTAAAGCC -3'
(R):5'- TAAGTGACGCATGGAGATGTGC -3'
Sequencing Primer
(F):5'- CAAGCTGGTCTAAAGCCTTGGG -3'
(R):5'- ACTGATGTCGCCACTTTCAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation