Incidental Mutation 'R6324:Cr1l'
| ID |
510635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr1l
|
| Ensembl Gene |
ENSMUSG00000016481 |
| Gene Name |
complement C3b/C4b receptor 1 like |
| Synonyms |
Crry, mCRY |
| MMRRC Submission |
044478-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 194793430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 377
(V377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075451]
[ENSMUST00000191775]
[ENSMUST00000193094]
[ENSMUST00000194062]
[ENSMUST00000194111]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075451
AA Change: V377A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: V377A
| 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: V377A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: V377A
| 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
AA Change: V136A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481
AA Change: V136A
| 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: V339A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: V339A
| 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: ENSMUST00000194732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195586
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
96% (47/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp13a3 |
A |
G |
16: 30,151,103 (GRCm39) |
V1069A |
possibly damaging |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,737,292 (GRCm39) |
S1877P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,120,648 (GRCm39) |
S383T |
probably benign |
Het |
| Dazap1 |
A |
G |
10: 80,113,494 (GRCm39) |
E130G |
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,414,145 (GRCm39) |
A890E |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,482,893 (GRCm39) |
T2143I |
probably benign |
Het |
| Eif3j1 |
A |
G |
2: 121,871,659 (GRCm39) |
D60G |
probably benign |
Het |
| Enah |
A |
G |
1: 181,746,136 (GRCm39) |
S382P |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,608 (GRCm39) |
K427* |
probably null |
Het |
| Fmn2 |
A |
T |
1: 174,440,119 (GRCm39) |
I1179L |
possibly damaging |
Het |
| Focad |
C |
T |
4: 88,319,305 (GRCm39) |
R1505* |
probably null |
Het |
| Frem1 |
T |
C |
4: 82,901,574 (GRCm39) |
T985A |
probably benign |
Het |
| Gm3404 |
A |
T |
5: 146,464,917 (GRCm39) |
Q219L |
possibly damaging |
Het |
| Gm5592 |
A |
C |
7: 40,935,959 (GRCm39) |
S154R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,815,365 (GRCm39) |
E586G |
probably damaging |
Het |
| Gstp2 |
A |
T |
19: 4,090,499 (GRCm39) |
I162N |
probably benign |
Het |
| Lin7a |
T |
A |
10: 107,216,076 (GRCm39) |
|
probably null |
Het |
| Loxl4 |
G |
A |
19: 42,583,817 (GRCm39) |
L745F |
probably benign |
Het |
| Ms4a19 |
T |
A |
19: 11,140,811 (GRCm39) |
M3L |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,404,481 (GRCm39) |
I172T |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,647,161 (GRCm39) |
W571R |
possibly damaging |
Het |
| Nkx2-5 |
G |
C |
17: 27,060,095 (GRCm39) |
P79A |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,582,487 (GRCm39) |
T134A |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,134 (GRCm39) |
E203G |
probably damaging |
Het |
| Or13p4 |
G |
A |
4: 118,547,728 (GRCm39) |
|
probably benign |
Het |
| Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
| Or5b109 |
A |
G |
19: 13,212,468 (GRCm39) |
M285V |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,745,171 (GRCm39) |
D616G |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prl7b1 |
A |
T |
13: 27,786,878 (GRCm39) |
|
probably null |
Het |
| Prop1 |
G |
A |
11: 50,843,026 (GRCm39) |
P54S |
probably benign |
Het |
| Ptcd3 |
C |
T |
6: 71,862,311 (GRCm39) |
V509I |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
| Rapgef2 |
C |
T |
3: 78,986,439 (GRCm39) |
V1182I |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,525,696 (GRCm39) |
P962Q |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc38a9 |
A |
G |
13: 112,862,634 (GRCm39) |
I444M |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,310,263 (GRCm39) |
T492A |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,518 (GRCm39) |
S1478R |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,972,774 (GRCm39) |
N276I |
probably damaging |
Het |
| Trbv19 |
G |
A |
6: 41,155,692 (GRCm39) |
G21D |
probably damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,185 (GRCm39) |
D1184E |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,977 (GRCm39) |
L182* |
probably null |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,137 (GRCm39) |
*856R |
probably null |
Het |
| Vmn2r70 |
G |
A |
7: 85,208,087 (GRCm39) |
H797Y |
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,733,587 (GRCm39) |
A625T |
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 |
|
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 |
|
|
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'- TGATTGTTTGAGGCACGGTA -3'
(R):5'- TTCTGGTGGCCCCATAACT -3'
Sequencing Primer
(F):5'- GCACGGTATATTATTCTGTGACTCAG -3'
(R):5'- CTGGTGGCCCCATAACTAATAATG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation