Incidental Mutation 'R6424:Cr1l'
ID |
518255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cr1l
|
Ensembl Gene |
ENSMUSG00000016481 |
Gene Name |
complement C3b/C4b receptor 1 like |
Synonyms |
Crry, mCRY |
MMRRC Submission |
044387-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6424 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 194800123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 184
(F184V)
|
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: F184V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074902 Gene: ENSMUSG00000016481 AA Change: F184V
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 |
possibly damaging
Transcript: ENSMUST00000191775
AA Change: F124V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141250 Gene: ENSMUSG00000016481 AA Change: F124V
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 |
possibly damaging
Transcript: ENSMUST00000193094
AA Change: F184V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142309 Gene: ENSMUSG00000016481 AA Change: F184V
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 |
probably benign
Transcript: ENSMUST00000194062
|
SMART Domains |
Protein: ENSMUSP00000142104 Gene: ENSMUSG00000016481
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 damaging
Transcript: ENSMUST00000194111
AA Change: F146V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142069 Gene: ENSMUSG00000016481 AA Change: F146V
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
Haus8 |
C |
T |
8: 71,704,080 (GRCm39) |
W359* |
probably null |
Het |
Insm2 |
A |
T |
12: 55,646,867 (GRCm39) |
I204F |
probably damaging |
Het |
Katnb1 |
T |
A |
8: 95,820,144 (GRCm39) |
I97N |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Scgb2b19 |
A |
C |
7: 32,978,022 (GRCm39) |
S92A |
possibly damaging |
Het |
Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
Shpk |
A |
T |
11: 73,104,318 (GRCm39) |
I156F |
possibly damaging |
Het |
Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACTGCATTTTCAACATAGGGAG -3'
(R):5'- AGTCAGAGCACATGTTATTGTATGC -3'
Sequencing Primer
(F):5'- TTTTCAACATAGGGAGGAGGAGTAC -3'
(R):5'- GTTATTGTATGCATCTAAATGGCAAC -3'
|
Posted On |
2018-05-24 |