Incidental Mutation 'R1444:Cr1l'
| ID |
158691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr1l
|
| Ensembl Gene |
ENSMUSG00000016481 |
| Gene Name |
complement C3b/C4b receptor 1 like |
| Synonyms |
Crry, mCRY |
| MMRRC Submission |
039499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 194813510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 35
(L35Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142309
(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: L35Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: L35Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000192405
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193094
AA Change: L35Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: L35Q
| 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 |
unknown
Transcript: ENSMUST00000193829
AA Change: L35Q
|
| SMART Domains |
Protein: ENSMUSP00000141996
Gene: ENSMUSG00000016481
AA Change: L35Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194111
|
| SMART Domains |
Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
| 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
|
| Meta Mutation Damage Score |
0.3119 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
| A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
| Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
| Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
| Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,091,924 (GRCm39) |
G14C |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
| Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,733,382 (GRCm39) |
S176L |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
| Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
| Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
| Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
| Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
| Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
| Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
| Xrn2 |
C |
T |
2: 146,903,408 (GRCm39) |
R803W |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,402,873 (GRCm39) |
S625N |
probably damaging |
Het |
| Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGACCTTCCTTAAAGTGGAAGCTC -3'
(R):5'- TGCTTTCTACACCATTTGCCGTAAAAC -3'
Sequencing Primer
(F):5'- atctccatttcacagataaggaaac -3'
(R):5'- GCCGTAAAACGTTGTTTGAGAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation