Incidental Mutation 'IGL02412:Cr1l'
ID |
294399 |
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 # |
IGL02412
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 194797080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 319
(Y319S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075451]
[ENSMUST00000191775]
[ENSMUST00000193094]
[ENSMUST00000194062]
[ENSMUST00000194111]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075451
AA Change: Y319S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074902 Gene: ENSMUSG00000016481 AA Change: Y319S
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
|
SMART Domains |
Protein: ENSMUSP00000141250 Gene: ENSMUSG00000016481
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 |
probably benign
Transcript: ENSMUST00000193094
AA Change: Y319S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142309 Gene: ENSMUSG00000016481 AA Change: Y319S
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 |
possibly damaging
Transcript: ENSMUST00000194062
AA Change: Y78S
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142104 Gene: ENSMUSG00000016481 AA Change: Y78S
Domain | Start | End | E-Value | Type |
CCP
|
1 |
52 |
2.9e-9 |
SMART |
CCP
|
58 |
114 |
3.3e-14 |
SMART |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194111
AA Change: Y281S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000142069 Gene: ENSMUSG00000016481 AA Change: Y281S
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,652,849 (GRCm39) |
D488G |
probably benign |
Het |
Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
Kpna1 |
T |
C |
16: 35,851,561 (GRCm39) |
F382L |
probably benign |
Het |
Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
Sh3pxd2b |
T |
A |
11: 32,337,992 (GRCm39) |
D99E |
probably damaging |
Het |
Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
Tfap2b |
A |
T |
1: 19,289,427 (GRCm39) |
D166V |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
Trpc1 |
G |
A |
9: 95,618,914 (GRCm39) |
L146F |
probably damaging |
Het |
Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
Het |
|
Other mutations in Cr1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01615:Cr1l
|
APN |
1 |
194,812,189 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
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 |
2015-04-16 |