Incidental Mutation 'R6402:Creld2'
| ID |
516204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld2
|
| Ensembl Gene |
ENSMUSG00000023272 |
| Gene Name |
cysteine-rich with EGF-like domains 2 |
| Synonyms |
5730592L21Rik |
| MMRRC Submission |
044419-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6402 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88703849-88710884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88707344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 221
(R221C)
|
| 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: R221C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: R221C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
A |
9: 103,976,144 (GRCm39) |
I268F |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,563,803 (GRCm39) |
V514A |
possibly damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,524 (GRCm39) |
G480W |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,970,956 (GRCm39) |
I247T |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,108 (GRCm39) |
Y172H |
probably damaging |
Het |
| Dmac1 |
C |
T |
4: 75,196,217 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
A |
G |
14: 78,177,318 (GRCm39) |
E166G |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,960,407 (GRCm39) |
F64S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,801,352 (GRCm39) |
H538L |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,111 (GRCm39) |
|
probably null |
Het |
| Mettl8 |
A |
T |
2: 70,796,805 (GRCm39) |
Y98* |
probably null |
Het |
| Naip6 |
G |
T |
13: 100,437,226 (GRCm39) |
H432Q |
probably benign |
Het |
| Sirt4 |
C |
T |
5: 115,618,370 (GRCm39) |
V235M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,389 (GRCm39) |
H827R |
probably benign |
Het |
| Slc23a3 |
T |
C |
1: 75,105,200 (GRCm39) |
N456S |
probably damaging |
Het |
| Slc9a1 |
C |
A |
4: 133,097,962 (GRCm39) |
H36Q |
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,164,041 (GRCm39) |
T70A |
probably damaging |
Het |
| Stambpl1 |
C |
A |
19: 34,211,539 (GRCm39) |
P200Q |
probably benign |
Het |
| Trio |
T |
A |
15: 27,902,997 (GRCm39) |
I155L |
probably benign |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,444 (GRCm39) |
V120A |
probably benign |
Het |
| Wac |
A |
G |
18: 7,901,585 (GRCm39) |
S77G |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,886,987 (GRCm39) |
T675I |
probably damaging |
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 |
|
|
R4297:Creld2
|
UTSW |
15 |
88,707,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTCAGAGTTAAGTGCTGCTGTTTTC -3'
(R):5'- ACATGCCGGCCATAAGAGTG -3'
Sequencing Primer
(F):5'- TTCCTGCCAATCTTAAAAATCCTC -3'
(R):5'- TGGCCTTCCACAGCCCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation