Incidental Mutation 'R1135:Cr2'
| ID |
94888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-1, Cr1, CD35, Cr-2 |
| MMRRC Submission |
039208-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
195136811-195176716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 195157190 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 643
(I643N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082321
AA Change: I643N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: I643N
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192604
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193356
AA Change: I346N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: I346N
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195120
AA Change: I643N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: I643N
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195737
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210219
AA Change: I1019N
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
G |
T |
4: 147,944,658 |
V362L |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,653,662 |
L166F |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 60,957,396 |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 |
|
probably benign |
Het |
| Fibin |
G |
A |
2: 110,362,222 |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,887,927 |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,294,124 |
|
probably null |
Het |
| Msantd2 |
A |
G |
9: 37,522,712 |
I83V |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,807,197 |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 147,084,408 |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 87,323,789 |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,275,943 |
R1085Q |
possibly damaging |
Het |
| Skint10 |
C |
T |
4: 112,711,463 |
W352* |
probably null |
Het |
| Srsf4 |
T |
G |
4: 131,900,069 |
|
probably benign |
Het |
| Sytl1 |
C |
T |
4: 133,256,970 |
G274D |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,732,191 |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 122,358,633 |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 145,155,589 |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,076,558 |
P830L |
probably damaging |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
195154251 |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
195141221 |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
195159820 |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
195163234 |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
195168535 |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
195155220 |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
195159595 |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
195150914 |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
195160322 |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
195154325 |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
195166388 |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
195166366 |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
195169759 |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
195169759 |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
195155888 |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
195166309 |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
195157452 |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
195166231 |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
195166231 |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
195157407 |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
195160359 |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
195163596 |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
195171111 |
missense |
possibly damaging |
0.95 |
|
R1396:Cr2
|
UTSW |
1 |
195169253 |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
195171125 |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
195157509 |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
195157509 |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
195155272 |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
195163314 |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
195151686 |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
195155905 |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
195155123 |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
195157316 |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
195155187 |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
195154150 |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
195154150 |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
195154150 |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
195163381 |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
195157368 |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
195157368 |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
195155888 |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
195149966 |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
195165814 |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
195159739 |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
195156328 |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
195154174 |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
195171041 |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
195155935 |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
195163311 |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
195163311 |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
195176570 |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
195158731 |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
195176585 |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
195159446 |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
195141236 |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
195157190 |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
195154273 |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
195159757 |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
195171111 |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
195157502 |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
195168646 |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
195168472 |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
195169771 |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
195157379 |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
195171021 |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
195155200 |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
195151691 |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
195171146 |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
195151610 |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
195160601 |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
195163249 |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
195168724 |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
195155286 |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
195150036 |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
195165257 |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
195158410 |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
195154176 |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
195169340 |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
195154225 |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
195151667 |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
195168687 |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
195158068 |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
195163542 |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
195155899 |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
195158605 |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
195157239 |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
195169273 |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
195171116 |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
195151721 |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
195155372 |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
195158669 |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
195168332 |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
195158108 |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
195168435 |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
195158108 |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
195141267 |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
195160680 |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
195149982 |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
195166321 |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
195154153 |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACCAAATTTTATCTCCAGCCC -3'
(R):5'- GTGAGAAATGCTGCACTTCAAACCC -3'
Sequencing Primer
(F):5'- aaattttatctccagcccctcaaTTC -3'
(R):5'- GAGTTCCTCAGAAGATGTCCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation