Incidental Mutation 'R5645:Cr2'
ID |
441033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cr2
|
Ensembl Gene |
ENSMUSG00000026616 |
Gene Name |
complement receptor 2 |
Synonyms |
C3DR, CD21, Cr-2, Cr1, Cr-1, CD35 |
MMRRC Submission |
043293-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R5645 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 194836581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 861
(H861N)
|
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: H861N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080938 Gene: ENSMUSG00000026616 AA Change: H861N
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: H564N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141706 Gene: ENSMUSG00000026616 AA Change: H564N
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: ENSMUST00000193436
|
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: H861N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141538 Gene: ENSMUSG00000026616 AA Change: H861N
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 |
probably damaging
Transcript: ENSMUST00000210219
AA Change: H1237N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,403 (GRCm39) |
I169V |
probably damaging |
Het |
4930503B20Rik |
C |
T |
3: 146,356,264 (GRCm39) |
E215K |
probably damaging |
Het |
Abca6 |
T |
C |
11: 110,141,234 (GRCm39) |
E29G |
probably damaging |
Het |
Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,277,506 (GRCm39) |
T707A |
possibly damaging |
Het |
Adcy2 |
C |
A |
13: 68,877,321 (GRCm39) |
|
probably null |
Het |
Agbl4 |
A |
T |
4: 111,514,527 (GRCm39) |
I513F |
possibly damaging |
Het |
Ak5 |
A |
T |
3: 152,361,670 (GRCm39) |
M84K |
possibly damaging |
Het |
Akap1 |
T |
C |
11: 88,736,453 (GRCm39) |
T103A |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,100,590 (GRCm39) |
T2751A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,627,462 (GRCm39) |
H567L |
possibly damaging |
Het |
Ano6 |
A |
G |
15: 95,818,232 (GRCm39) |
Y325C |
probably benign |
Het |
Apba2 |
A |
G |
7: 64,345,554 (GRCm39) |
E248G |
possibly damaging |
Het |
Asap2 |
T |
A |
12: 21,315,983 (GRCm39) |
V967E |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,932,961 (GRCm39) |
V976E |
probably damaging |
Het |
Boc |
A |
G |
16: 44,320,024 (GRCm39) |
V320A |
probably damaging |
Het |
Car13 |
T |
A |
3: 14,710,180 (GRCm39) |
Y41N |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
Cep295 |
C |
A |
9: 15,246,404 (GRCm39) |
S684I |
possibly damaging |
Het |
Cep295 |
A |
T |
9: 15,244,090 (GRCm39) |
H1455Q |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,534,243 (GRCm39) |
I630V |
probably benign |
Het |
Cyp2c37 |
G |
A |
19: 39,982,596 (GRCm39) |
V145I |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,833,443 (GRCm39) |
T500M |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
Fam161a |
T |
A |
11: 22,965,725 (GRCm39) |
I6N |
probably damaging |
Het |
Fry |
T |
C |
5: 150,304,332 (GRCm39) |
V574A |
probably damaging |
Het |
Glb1l3 |
G |
T |
9: 26,736,122 (GRCm39) |
L553I |
probably benign |
Het |
Gm1123 |
T |
C |
9: 98,896,244 (GRCm39) |
D212G |
probably benign |
Het |
Grin2a |
T |
A |
16: 9,810,090 (GRCm39) |
D103V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,527,333 (GRCm39) |
I98V |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,310,824 (GRCm39) |
T3356N |
possibly damaging |
Het |
Hpf1 |
T |
G |
8: 61,349,834 (GRCm39) |
I154S |
possibly damaging |
Het |
Ifnar2 |
A |
G |
16: 91,201,115 (GRCm39) |
D452G |
possibly damaging |
Het |
Iqcc |
A |
T |
4: 129,510,320 (GRCm39) |
H398Q |
possibly damaging |
Het |
Iqgap3 |
T |
C |
3: 88,025,006 (GRCm39) |
I669T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,020,074 (GRCm39) |
T859A |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,503 (GRCm39) |
M266V |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,331,426 (GRCm39) |
D600G |
possibly damaging |
Het |
Klf13 |
G |
A |
7: 63,541,348 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,742,278 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,109,943 (GRCm39) |
D2188G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,148,273 (GRCm39) |
T682A |
probably damaging |
Het |
Mab21l4 |
T |
C |
1: 93,080,668 (GRCm39) |
T413A |
probably damaging |
Het |
Mslnl |
G |
T |
17: 25,956,816 (GRCm39) |
G34V |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,426,044 (GRCm39) |
S2360R |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,426,051 (GRCm39) |
|
probably null |
Het |
Nkx2-2 |
T |
C |
2: 147,026,319 (GRCm39) |
T140A |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,524 (GRCm39) |
V262A |
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,049 (GRCm39) |
V199E |
possibly damaging |
Het |
Oser1 |
C |
T |
2: 163,248,965 (GRCm39) |
R79H |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,881,958 (GRCm39) |
V909A |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,388 (GRCm39) |
E1970G |
probably benign |
Het |
Prph2 |
G |
T |
17: 47,221,593 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,425,758 (GRCm39) |
A1288S |
probably benign |
Het |
Scart2 |
G |
A |
7: 139,828,853 (GRCm39) |
V171I |
possibly damaging |
Het |
Sdha |
A |
G |
13: 74,471,958 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
G |
2: 26,329,907 (GRCm39) |
T703P |
probably benign |
Het |
Senp7 |
T |
A |
16: 55,993,571 (GRCm39) |
N724K |
possibly damaging |
Het |
Skint1 |
A |
G |
4: 111,882,699 (GRCm39) |
I248V |
probably benign |
Het |
Slc9a5 |
T |
C |
8: 106,083,645 (GRCm39) |
V395A |
probably benign |
Het |
Slco1a4 |
T |
C |
6: 141,780,385 (GRCm39) |
N135S |
possibly damaging |
Het |
Sncaip |
A |
G |
18: 53,028,028 (GRCm39) |
I412M |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,225,781 (GRCm39) |
D841V |
possibly damaging |
Het |
Tekt1 |
A |
T |
11: 72,242,663 (GRCm39) |
H281Q |
probably benign |
Het |
Tex46 |
G |
T |
4: 136,340,228 (GRCm39) |
M104I |
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,114,454 (GRCm39) |
|
probably null |
Het |
Treh |
A |
G |
9: 44,593,975 (GRCm39) |
Y154C |
probably damaging |
Het |
Trim80 |
T |
A |
11: 115,337,611 (GRCm39) |
L428Q |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,830,968 (GRCm39) |
K1278E |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,414,570 (GRCm39) |
R49H |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,325,024 (GRCm39) |
M990T |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Ywhae |
T |
C |
11: 75,647,750 (GRCm39) |
M160T |
probably benign |
Het |
|
Other mutations in Cr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Cr2
|
APN |
1 |
194,836,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01326:Cr2
|
APN |
1 |
194,823,529 (GRCm39) |
missense |
probably null |
1.00 |
IGL01358:Cr2
|
APN |
1 |
194,842,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01410:Cr2
|
APN |
1 |
194,845,542 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01468:Cr2
|
APN |
1 |
194,850,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01608:Cr2
|
APN |
1 |
194,837,528 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01810:Cr2
|
APN |
1 |
194,841,903 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01843:Cr2
|
APN |
1 |
194,833,222 (GRCm39) |
splice site |
probably benign |
|
IGL02332:Cr2
|
APN |
1 |
194,842,630 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02934:Cr2
|
APN |
1 |
194,836,633 (GRCm39) |
splice site |
probably benign |
|
IGL02938:Cr2
|
APN |
1 |
194,848,696 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Cr2
|
APN |
1 |
194,848,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03327:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03346:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
Pillar
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
PIT4354001:Cr2
|
UTSW |
1 |
194,848,617 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4418001:Cr2
|
UTSW |
1 |
194,839,760 (GRCm39) |
missense |
probably benign |
0.08 |
R0128:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R0130:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R0380:Cr2
|
UTSW |
1 |
194,839,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Cr2
|
UTSW |
1 |
194,842,667 (GRCm39) |
splice site |
probably benign |
|
R0605:Cr2
|
UTSW |
1 |
194,845,904 (GRCm39) |
splice site |
probably benign |
|
R0626:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1135:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Cr2
|
UTSW |
1 |
194,851,561 (GRCm39) |
splice site |
probably null |
|
R1422:Cr2
|
UTSW |
1 |
194,853,433 (GRCm39) |
missense |
probably benign |
0.01 |
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Cr2
|
UTSW |
1 |
194,837,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1572:Cr2
|
UTSW |
1 |
194,845,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R1714:Cr2
|
UTSW |
1 |
194,833,994 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1748:Cr2
|
UTSW |
1 |
194,838,213 (GRCm39) |
nonsense |
probably null |
|
R1761:Cr2
|
UTSW |
1 |
194,837,431 (GRCm39) |
critical splice donor site |
probably null |
|
R1824:Cr2
|
UTSW |
1 |
194,839,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Cr2
|
UTSW |
1 |
194,837,495 (GRCm39) |
missense |
probably benign |
0.03 |
R1990:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1991:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1992:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2191:Cr2
|
UTSW |
1 |
194,845,689 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2276:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2277:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3548:Cr2
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
R3743:Cr2
|
UTSW |
1 |
194,832,274 (GRCm39) |
splice site |
probably benign |
|
R3941:Cr2
|
UTSW |
1 |
194,848,122 (GRCm39) |
missense |
probably damaging |
0.97 |
R3963:Cr2
|
UTSW |
1 |
194,842,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Cr2
|
UTSW |
1 |
194,838,636 (GRCm39) |
missense |
probably damaging |
0.96 |
R4484:Cr2
|
UTSW |
1 |
194,836,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R4546:Cr2
|
UTSW |
1 |
194,853,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4791:Cr2
|
UTSW |
1 |
194,838,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:Cr2
|
UTSW |
1 |
194,858,878 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4885:Cr2
|
UTSW |
1 |
194,841,039 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4889:Cr2
|
UTSW |
1 |
194,858,893 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5154:Cr2
|
UTSW |
1 |
194,841,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Cr2
|
UTSW |
1 |
194,823,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R5700:Cr2
|
UTSW |
1 |
194,842,065 (GRCm39) |
missense |
probably damaging |
0.96 |
R5929:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6237:Cr2
|
UTSW |
1 |
194,839,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Cr2
|
UTSW |
1 |
194,850,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R6368:Cr2
|
UTSW |
1 |
194,850,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6406:Cr2
|
UTSW |
1 |
194,852,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R6618:Cr2
|
UTSW |
1 |
194,839,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R6684:Cr2
|
UTSW |
1 |
194,853,329 (GRCm39) |
nonsense |
probably null |
|
R6720:Cr2
|
UTSW |
1 |
194,837,508 (GRCm39) |
missense |
probably damaging |
0.97 |
R6866:Cr2
|
UTSW |
1 |
194,833,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Cr2
|
UTSW |
1 |
194,853,454 (GRCm39) |
missense |
probably benign |
0.06 |
R7057:Cr2
|
UTSW |
1 |
194,833,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7117:Cr2
|
UTSW |
1 |
194,842,909 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7200:Cr2
|
UTSW |
1 |
194,845,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7209:Cr2
|
UTSW |
1 |
194,851,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Cr2
|
UTSW |
1 |
194,837,594 (GRCm39) |
missense |
probably benign |
0.21 |
R7414:Cr2
|
UTSW |
1 |
194,832,344 (GRCm39) |
missense |
probably benign |
|
R7453:Cr2
|
UTSW |
1 |
194,847,565 (GRCm39) |
splice site |
probably null |
|
R7479:Cr2
|
UTSW |
1 |
194,840,718 (GRCm39) |
critical splice donor site |
probably null |
|
R7480:Cr2
|
UTSW |
1 |
194,836,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Cr2
|
UTSW |
1 |
194,851,648 (GRCm39) |
nonsense |
probably null |
|
R7666:Cr2
|
UTSW |
1 |
194,836,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Cr2
|
UTSW |
1 |
194,833,975 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7923:Cr2
|
UTSW |
1 |
194,850,995 (GRCm39) |
missense |
probably benign |
0.03 |
R8396:Cr2
|
UTSW |
1 |
194,840,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R8503:Cr2
|
UTSW |
1 |
194,845,850 (GRCm39) |
missense |
probably benign |
|
R8517:Cr2
|
UTSW |
1 |
194,838,207 (GRCm39) |
missense |
probably benign |
0.03 |
R8773:Cr2
|
UTSW |
1 |
194,840,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Cr2
|
UTSW |
1 |
194,839,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Cr2
|
UTSW |
1 |
194,851,581 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8938:Cr2
|
UTSW |
1 |
194,853,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R9027:Cr2
|
UTSW |
1 |
194,834,029 (GRCm39) |
missense |
probably benign |
0.08 |
R9045:Cr2
|
UTSW |
1 |
194,837,680 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9116:Cr2
|
UTSW |
1 |
194,840,977 (GRCm39) |
nonsense |
probably null |
|
R9137:Cr2
|
UTSW |
1 |
194,850,640 (GRCm39) |
critical splice donor site |
probably null |
|
R9476:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
R9497:Cr2
|
UTSW |
1 |
194,850,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R9510:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
R9752:Cr2
|
UTSW |
1 |
194,823,575 (GRCm39) |
missense |
probably benign |
0.37 |
R9799:Cr2
|
UTSW |
1 |
194,842,988 (GRCm39) |
missense |
probably benign |
0.02 |
X0028:Cr2
|
UTSW |
1 |
194,832,290 (GRCm39) |
missense |
probably benign |
0.09 |
X0066:Cr2
|
UTSW |
1 |
194,848,629 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Cr2
|
UTSW |
1 |
194,836,461 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGATGTTTGTCAAATGCACTC -3'
(R):5'- GCACACATTTGTCCAAACTTGAG -3'
Sequencing Primer
(F):5'- TAACAATAGGGTCACTATAGC -3'
(R):5'- CATTTGTCCAAACTTGAGAATGAAC -3'
|
Posted On |
2016-11-08 |