Incidental Mutation 'IGL01615:Cr1l'
| ID |
92356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cr1l
|
| Ensembl Gene |
ENSMUSG00000016481 |
| Gene Name |
complement C3b/C4b receptor 1 like |
| Synonyms |
Crry, mCRY |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 194812189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 45
(I45V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075451]
[ENSMUST00000191775]
[ENSMUST00000193094]
[ENSMUST00000193829]
[ENSMUST00000194111]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075451
AA Change: I83V
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
CCP
|
42 |
98 |
3.51e-6 |
SMART |
|
CCP
|
103 |
160 |
1.61e-14 |
SMART |
|
CCP
|
165 |
231 |
7.92e-14 |
SMART |
|
CCP
|
237 |
293 |
5.23e-14 |
SMART |
|
CCP
|
299 |
355 |
6.69e-12 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191775
AA Change: I23V
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: I23V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sushi
|
1 |
38 |
9e-6 |
PFAM |
|
CCP
|
43 |
100 |
8e-17 |
SMART |
|
CCP
|
105 |
171 |
3.9e-16 |
SMART |
|
CCP
|
177 |
233 |
2.6e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192405
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193094
AA Change: I83V
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
CCP
|
42 |
98 |
1.7e-8 |
SMART |
|
CCP
|
103 |
160 |
8e-17 |
SMART |
|
CCP
|
165 |
231 |
3.9e-16 |
SMART |
|
CCP
|
237 |
293 |
2.6e-16 |
SMART |
|
CCP
|
299 |
355 |
3.3e-14 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193829
|
| SMART Domains |
Protein: ENSMUSP00000141996
Gene: ENSMUSG00000016481
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194111
AA Change: I45V
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: I45V
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
4 |
60 |
1.7e-8 |
SMART |
|
CCP
|
65 |
122 |
8e-17 |
SMART |
|
CCP
|
127 |
193 |
3.9e-16 |
SMART |
|
CCP
|
199 |
255 |
2.6e-16 |
SMART |
|
CCP
|
261 |
317 |
3.3e-14 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195586
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition. Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
| C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
| Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
| D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
| Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
| Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
| Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
| Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
| Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
| Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
| Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
| Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
| Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
Het |
|
| Other mutations in Cr1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01988:Cr1l
|
APN |
1 |
194,799,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Cr1l
|
APN |
1 |
194,797,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Cr1l
|
APN |
1 |
194,797,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02707:Cr1l
|
APN |
1 |
194,806,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02726:Cr1l
|
APN |
1 |
194,812,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Cr1l
|
UTSW |
1 |
194,794,720 (GRCm39) |
splice site |
probably benign |
|
|
R0153:Cr1l
|
UTSW |
1 |
194,797,164 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Cr1l
|
UTSW |
1 |
194,800,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Cr1l
|
UTSW |
1 |
194,813,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1760:Cr1l
|
UTSW |
1 |
194,797,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2402:Cr1l
|
UTSW |
1 |
194,789,210 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4583:Cr1l
|
UTSW |
1 |
194,812,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5977:Cr1l
|
UTSW |
1 |
194,797,076 (GRCm39) |
nonsense |
probably null |
|
|
R6113:Cr1l
|
UTSW |
1 |
194,813,719 (GRCm39) |
unclassified |
probably benign |
|
|
R6324:Cr1l
|
UTSW |
1 |
194,793,430 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6424:Cr1l
|
UTSW |
1 |
194,800,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Cr1l
|
UTSW |
1 |
194,806,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7174:Cr1l
|
UTSW |
1 |
194,811,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Cr1l
|
UTSW |
1 |
194,799,878 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7979:Cr1l
|
UTSW |
1 |
194,800,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8104:Cr1l
|
UTSW |
1 |
194,799,925 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8958:Cr1l
|
UTSW |
1 |
194,812,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Cr1l
|
UTSW |
1 |
194,789,204 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9124:Cr1l
|
UTSW |
1 |
194,799,925 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9185:Cr1l
|
UTSW |
1 |
194,797,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Cr1l
|
UTSW |
1 |
194,786,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9265:Cr1l
|
UTSW |
1 |
194,806,027 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9270:Cr1l
|
UTSW |
1 |
194,789,204 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9681:Cr1l
|
UTSW |
1 |
194,800,149 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0020:Cr1l
|
UTSW |
1 |
194,812,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation