Incidental Mutation 'IGL02707:Cr1l'
ID |
304408 |
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 # |
IGL02707
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 194806019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 155
(T155A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142309
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075451]
[ENSMUST00000191775]
[ENSMUST00000193094]
[ENSMUST00000194111]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075451
AA Change: T155A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000074902 Gene: ENSMUSG00000016481 AA Change: T155A
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: T95A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141250 Gene: ENSMUSG00000016481 AA Change: T95A
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: T155A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142309 Gene: ENSMUSG00000016481 AA Change: T155A
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: ENSMUST00000194111
AA Change: T117A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142069 Gene: ENSMUSG00000016481 AA Change: T117A
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,165,928 (GRCm39) |
T149A |
probably benign |
Het |
4932414N04Rik |
A |
C |
2: 68,561,474 (GRCm39) |
Q267P |
possibly damaging |
Het |
Actr5 |
T |
C |
2: 158,478,617 (GRCm39) |
V489A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,972,895 (GRCm39) |
|
probably benign |
Het |
Aff4 |
A |
G |
11: 53,290,567 (GRCm39) |
N509S |
probably benign |
Het |
Arhgap22 |
C |
T |
14: 33,085,229 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
C |
A |
10: 127,165,476 (GRCm39) |
H628Q |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,001,123 (GRCm39) |
I486N |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,558,787 (GRCm39) |
|
probably benign |
Het |
Avil |
A |
G |
10: 126,842,431 (GRCm39) |
D70G |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,645,780 (GRCm39) |
|
probably benign |
Het |
Cep63 |
A |
T |
9: 102,464,180 (GRCm39) |
I717K |
probably damaging |
Het |
Chd4 |
G |
T |
6: 125,085,730 (GRCm39) |
A875S |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,471,237 (GRCm39) |
M706K |
unknown |
Het |
Ctnna3 |
A |
G |
10: 63,339,844 (GRCm39) |
N10S |
probably benign |
Het |
Cubn |
A |
G |
2: 13,450,843 (GRCm39) |
V854A |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,823,091 (GRCm39) |
T845A |
possibly damaging |
Het |
F10 |
G |
A |
8: 13,098,252 (GRCm39) |
A152T |
probably damaging |
Het |
Gabrg3 |
C |
A |
7: 56,632,439 (GRCm39) |
E170* |
probably null |
Het |
Heatr5a |
A |
G |
12: 51,968,149 (GRCm39) |
V829A |
probably benign |
Het |
Htt |
T |
A |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
Icam4 |
T |
C |
9: 20,941,770 (GRCm39) |
Y257H |
possibly damaging |
Het |
Jph1 |
A |
G |
1: 17,074,675 (GRCm39) |
S448P |
probably benign |
Het |
Kansl1l |
G |
A |
1: 66,812,604 (GRCm39) |
L125F |
probably damaging |
Het |
Kifc1 |
A |
T |
17: 34,100,467 (GRCm39) |
C46* |
probably null |
Het |
Lce3b |
A |
G |
3: 92,841,193 (GRCm39) |
D96G |
unknown |
Het |
Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
Mctp2 |
A |
G |
7: 71,909,089 (GRCm39) |
Y75H |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,274 (GRCm39) |
I200V |
probably benign |
Het |
Msr1 |
T |
C |
8: 40,085,870 (GRCm39) |
|
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,224,084 (GRCm39) |
T6I |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,828,438 (GRCm39) |
|
probably benign |
Het |
Myoc |
T |
A |
1: 162,467,029 (GRCm39) |
I66N |
probably benign |
Het |
Or10d1b |
T |
C |
9: 39,613,937 (GRCm39) |
I43V |
probably damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,171 (GRCm39) |
Y162N |
probably damaging |
Het |
Or51k1 |
A |
C |
7: 103,661,609 (GRCm39) |
L100W |
probably damaging |
Het |
Or52n20 |
T |
C |
7: 104,320,136 (GRCm39) |
C76R |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,859 (GRCm39) |
C215R |
probably damaging |
Het |
Or7a39 |
T |
C |
10: 78,715,759 (GRCm39) |
L251S |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,378,450 (GRCm39) |
D33G |
possibly damaging |
Het |
Pknox1 |
A |
G |
17: 31,821,793 (GRCm39) |
I295V |
possibly damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rhot2 |
A |
G |
17: 26,063,270 (GRCm39) |
S19P |
probably damaging |
Het |
Rps6kb1 |
C |
A |
11: 86,426,236 (GRCm39) |
|
probably null |
Het |
Serpinb1b |
C |
T |
13: 33,275,648 (GRCm39) |
T194I |
probably benign |
Het |
Smarcad1 |
T |
A |
6: 65,029,790 (GRCm39) |
|
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,428,759 (GRCm39) |
S449P |
probably benign |
Het |
Thrb |
A |
C |
14: 18,026,721 (GRCm38) |
I275L |
probably benign |
Het |
Tjp1 |
T |
A |
7: 64,979,431 (GRCm39) |
K365* |
probably null |
Het |
Tjp1 |
T |
A |
7: 64,979,430 (GRCm39) |
K365I |
possibly damaging |
Het |
Tm4sf4 |
C |
A |
3: 57,333,939 (GRCm39) |
C75* |
probably null |
Het |
Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,399,730 (GRCm39) |
T408A |
probably benign |
Het |
Ube2j1 |
T |
C |
4: 33,038,206 (GRCm39) |
L38P |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,757,425 (GRCm39) |
I1044T |
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 |
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 |