Incidental Mutation 'IGL02726:Cr1l'
ID |
305223 |
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 # |
IGL02726
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 194812188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 45
(I45N)
|
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 |
probably damaging
Transcript: ENSMUST00000075451
AA Change: I83N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074902 Gene: ENSMUSG00000016481 AA Change: I83N
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 damaging
Transcript: ENSMUST00000191775
AA Change: I23N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141250 Gene: ENSMUSG00000016481 AA Change: I23N
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 |
probably damaging
Transcript: ENSMUST00000193094
AA Change: I83N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142309 Gene: ENSMUSG00000016481 AA Change: I83N
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 |
probably damaging
Transcript: ENSMUST00000194111
AA Change: I45N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142069 Gene: ENSMUSG00000016481 AA Change: I45N
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
A |
T |
2: 128,501,705 (GRCm39) |
M779K |
probably benign |
Het |
Art1 |
G |
A |
7: 101,759,955 (GRCm39) |
V85M |
probably damaging |
Het |
Atad2b |
G |
T |
12: 5,024,003 (GRCm39) |
E43* |
probably null |
Het |
Clec4a4 |
A |
T |
6: 122,967,338 (GRCm39) |
I5F |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,676,140 (GRCm39) |
|
probably benign |
Het |
Dnajb3 |
A |
T |
1: 88,133,372 (GRCm39) |
V10E |
probably damaging |
Het |
Dnajc22 |
A |
T |
15: 98,998,881 (GRCm39) |
H22L |
probably damaging |
Het |
Dnal4 |
A |
G |
15: 79,647,745 (GRCm39) |
V40A |
probably damaging |
Het |
Dsg1b |
G |
A |
18: 20,532,542 (GRCm39) |
V529I |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,767,878 (GRCm39) |
|
probably null |
Het |
Fam131c |
T |
A |
4: 141,110,113 (GRCm39) |
D170E |
probably benign |
Het |
Got1 |
G |
A |
19: 43,488,851 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,349,270 (GRCm39) |
V2043E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,532,445 (GRCm39) |
Y3147* |
probably null |
Het |
Ifi44 |
T |
C |
3: 151,455,233 (GRCm39) |
|
probably benign |
Het |
Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,272,964 (GRCm39) |
I504N |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,277,419 (GRCm39) |
I655T |
probably benign |
Het |
Kcnk4 |
A |
G |
19: 6,904,457 (GRCm39) |
|
probably null |
Het |
Mrgprb2 |
T |
A |
7: 48,202,618 (GRCm39) |
R36W |
probably damaging |
Het |
Mslnl |
T |
C |
17: 25,963,077 (GRCm39) |
|
probably null |
Het |
Or10ak14 |
T |
A |
4: 118,610,961 (GRCm39) |
Y260F |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,691 (GRCm39) |
S87G |
probably benign |
Het |
Or2ag1b |
A |
C |
7: 106,288,577 (GRCm39) |
Y120* |
probably null |
Het |
Or8k16 |
G |
T |
2: 85,520,554 (GRCm39) |
L260F |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,620,986 (GRCm39) |
M935I |
probably benign |
Het |
Pdgfra |
C |
T |
5: 75,355,618 (GRCm39) |
Q1043* |
probably null |
Het |
Pf4 |
T |
C |
5: 90,920,523 (GRCm39) |
V28A |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,213,894 (GRCm39) |
L1689P |
probably damaging |
Het |
Ppa2 |
A |
G |
3: 133,076,222 (GRCm39) |
S284G |
possibly damaging |
Het |
Pramel22 |
G |
T |
4: 143,381,955 (GRCm39) |
P247H |
probably damaging |
Het |
Psd2 |
T |
C |
18: 36,120,355 (GRCm39) |
|
probably null |
Het |
Rbm25 |
G |
T |
12: 83,719,626 (GRCm39) |
G549W |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,753,206 (GRCm39) |
D1705G |
probably damaging |
Het |
Shf |
A |
T |
2: 122,189,969 (GRCm39) |
D96E |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,889,169 (GRCm39) |
V481M |
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,672,670 (GRCm39) |
V807A |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,062,356 (GRCm39) |
I4226N |
probably damaging |
Het |
Tex56 |
A |
G |
13: 35,136,943 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
T |
19: 10,573,576 (GRCm39) |
V254E |
possibly damaging |
Het |
Ubr2 |
A |
C |
17: 47,283,847 (GRCm39) |
Y601D |
probably damaging |
Het |
Ubr5 |
A |
C |
15: 38,000,806 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,854 (GRCm39) |
I50K |
possibly damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
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 |
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 |