Incidental Mutation 'R2504:Rbp3'
| ID |
252228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbp3
|
| Ensembl Gene |
ENSMUSG00000041534 |
| Gene Name |
retinol binding protein 3, interstitial |
| Synonyms |
Irbp, Rbp-3 |
| MMRRC Submission |
040412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2504 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33675960-33686173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33677975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 641
(T641M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035695]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035695
AA Change: T641M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: T641M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
TSPc
|
109 |
308 |
5.72e-69 |
SMART |
|
TSPc
|
416 |
616 |
1.98e-63 |
SMART |
|
TSPc
|
720 |
917 |
5.34e-69 |
SMART |
|
TSPc
|
1019 |
1216 |
2.13e-68 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene experience photoreceptor degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,681 (GRCm39) |
D28G |
probably benign |
Het |
| Abcg1 |
T |
A |
17: 31,311,369 (GRCm39) |
S125T |
probably damaging |
Het |
| Actbl2 |
T |
C |
13: 111,392,717 (GRCm39) |
S351P |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,575,569 (GRCm39) |
|
probably null |
Het |
| BC051665 |
C |
T |
13: 60,930,468 (GRCm39) |
V295I |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,983 (GRCm39) |
N265S |
probably damaging |
Het |
| Ccdc14 |
C |
T |
16: 34,542,220 (GRCm39) |
R573* |
probably null |
Het |
| Cd55b |
A |
T |
1: 130,337,612 (GRCm39) |
Y247N |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,320,907 (GRCm39) |
V635E |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,377,551 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,042,904 (GRCm39) |
Y41C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,172,126 (GRCm39) |
D19E |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,060,375 (GRCm39) |
N53S |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,248,700 (GRCm39) |
E1750K |
probably damaging |
Het |
| Csad |
A |
T |
15: 102,097,102 (GRCm39) |
M1K |
probably null |
Het |
| Cyb5rl |
A |
G |
4: 106,938,142 (GRCm39) |
I200V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,237 (GRCm39) |
H433L |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,208 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 139,097,908 (GRCm39) |
|
probably benign |
Het |
| Dmap1 |
G |
T |
4: 117,532,495 (GRCm39) |
T357K |
probably damaging |
Het |
| Dzip1 |
G |
T |
14: 119,118,456 (GRCm39) |
T759K |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,364 (GRCm39) |
D864G |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,816,511 (GRCm39) |
V2670A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,423,988 (GRCm39) |
I534F |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,359,628 (GRCm39) |
Y742D |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,106,272 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,536,545 (GRCm39) |
|
probably null |
Het |
| Fam229a |
A |
G |
4: 129,385,279 (GRCm39) |
D70G |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,226,431 (GRCm39) |
R781Q |
probably damaging |
Het |
| Fbxo16 |
A |
T |
14: 65,508,163 (GRCm39) |
|
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,111 (GRCm39) |
S154R |
probably benign |
Het |
| Fer |
T |
A |
17: 64,298,575 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
T |
16: 57,391,410 (GRCm39) |
D428V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,025 (GRCm39) |
I538V |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,809,954 (GRCm39) |
I2091T |
possibly damaging |
Het |
| Glyat |
A |
C |
19: 12,628,762 (GRCm39) |
T186P |
possibly damaging |
Het |
| Gm10604 |
A |
G |
4: 11,980,083 (GRCm39) |
S74P |
unknown |
Het |
| Gm4787 |
T |
G |
12: 81,425,911 (GRCm39) |
K82N |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,358,683 (GRCm39) |
I50T |
unknown |
Het |
| Hectd4 |
T |
C |
5: 121,402,030 (GRCm39) |
S373P |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,562,618 (GRCm39) |
C2313* |
probably null |
Het |
| Hrob |
T |
C |
11: 102,146,122 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,897,054 (GRCm39) |
S1171T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,241,642 (GRCm39) |
D267G |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,356,727 (GRCm39) |
C251R |
probably damaging |
Het |
| Jcad |
C |
T |
18: 4,674,026 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
| Kif13a |
G |
A |
13: 46,967,676 (GRCm39) |
T346M |
probably damaging |
Het |
| Klhl24 |
G |
A |
16: 19,938,917 (GRCm39) |
A491T |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,916,410 (GRCm39) |
Q748* |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,122 (GRCm39) |
K369* |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,476,466 (GRCm39) |
R433Q |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,793,293 (GRCm39) |
F582L |
unknown |
Het |
| Lysmd1 |
G |
A |
3: 95,045,708 (GRCm39) |
V182I |
probably benign |
Het |
| Mab21l2 |
T |
A |
3: 86,454,862 (GRCm39) |
E46V |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,563,934 (GRCm39) |
K355N |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,276,398 (GRCm39) |
D630G |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,875,147 (GRCm39) |
I1215N |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,360,562 (GRCm39) |
T523I |
probably benign |
Het |
| Nexmif |
T |
A |
X: 103,127,999 (GRCm39) |
D1306V |
probably damaging |
Het |
| Nfkb1 |
A |
C |
3: 135,295,090 (GRCm39) |
I918R |
possibly damaging |
Het |
| Nt5el |
A |
G |
13: 105,246,250 (GRCm39) |
I270M |
probably benign |
Het |
| Nup50 |
A |
T |
15: 84,817,859 (GRCm39) |
T93S |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,961,717 (GRCm39) |
Y434H |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,397 (GRCm39) |
V261A |
probably benign |
Het |
| Osbpl1a |
C |
A |
18: 13,038,088 (GRCm39) |
V288L |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,463,846 (GRCm39) |
E562G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,099,126 (GRCm39) |
Y548* |
probably null |
Het |
| Phf3 |
A |
T |
1: 30,849,870 (GRCm39) |
L1181Q |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,348,824 (GRCm39) |
I240T |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,438,368 (GRCm39) |
|
probably null |
Het |
| Polq |
T |
A |
16: 36,832,304 (GRCm39) |
S15T |
unknown |
Het |
| Prrt2 |
T |
C |
7: 126,619,396 (GRCm39) |
E23G |
possibly damaging |
Het |
| Prss37 |
A |
T |
6: 40,494,760 (GRCm39) |
|
probably null |
Het |
| Prune2 |
T |
C |
19: 16,977,400 (GRCm39) |
L45P |
probably damaging |
Het |
| Psd |
A |
T |
19: 46,313,352 (GRCm39) |
M6K |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,017,719 (GRCm39) |
E510G |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,053,405 (GRCm39) |
I1194N |
probably damaging |
Het |
| Rgmb |
C |
A |
17: 16,027,909 (GRCm39) |
R270L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 92,007,344 (GRCm39) |
|
probably null |
Het |
| Rps2 |
G |
A |
17: 24,939,353 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,107,364 (GRCm39) |
A550E |
probably damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,138 (GRCm39) |
R112H |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,691,838 (GRCm39) |
N148S |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,705 (GRCm39) |
M276I |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,255 (GRCm39) |
I708T |
possibly damaging |
Het |
| Skint11 |
T |
A |
4: 114,086,009 (GRCm39) |
F41I |
possibly damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,694,303 (GRCm39) |
F44Y |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,823,925 (GRCm39) |
Y72H |
probably benign |
Het |
| Slc7a11 |
A |
T |
3: 50,332,195 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
G |
T |
3: 31,291,650 (GRCm39) |
N209K |
possibly damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,257 (GRCm39) |
C59R |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,884,997 (GRCm39) |
|
probably null |
Het |
| Stag1 |
G |
T |
9: 100,748,263 (GRCm39) |
S475I |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,029 (GRCm39) |
Y1183H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,135,628 (GRCm39) |
|
probably null |
Het |
| Tm9sf2 |
A |
G |
14: 122,396,096 (GRCm39) |
T653A |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,059 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tnnt2 |
G |
T |
1: 135,779,803 (GRCm39) |
W300L |
probably damaging |
Het |
| Traj32 |
A |
G |
14: 54,423,560 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,269,204 (GRCm39) |
M223L |
probably benign |
Het |
| Tsga10 |
G |
A |
1: 37,854,758 (GRCm39) |
T246M |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,810,870 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,542 (GRCm39) |
F450I |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,703,677 (GRCm39) |
|
probably null |
Het |
| Vars2 |
C |
T |
17: 35,975,685 (GRCm39) |
R244Q |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,546,803 (GRCm39) |
F251L |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 82,087,863 (GRCm39) |
R564Q |
probably benign |
Het |
| Zfp983 |
T |
C |
17: 21,877,883 (GRCm39) |
C29R |
probably damaging |
Het |
|
| Other mutations in Rbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Rbp3
|
APN |
14 |
33,676,145 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01643:Rbp3
|
APN |
14 |
33,678,793 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01665:Rbp3
|
APN |
14 |
33,678,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01809:Rbp3
|
APN |
14 |
33,677,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Rbp3
|
APN |
14 |
33,680,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Rbp3
|
APN |
14 |
33,677,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02447:Rbp3
|
APN |
14 |
33,676,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:Rbp3
|
APN |
14 |
33,680,540 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03302:Rbp3
|
APN |
14 |
33,676,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Behagt
|
UTSW |
14 |
33,676,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
jagt
|
UTSW |
14 |
33,678,439 (GRCm39) |
missense |
probably damaging |
0.97 |
|
muntre
|
UTSW |
14 |
33,678,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Rotwild
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4717OSA:Rbp3
|
UTSW |
14 |
33,677,456 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0234:Rbp3
|
UTSW |
14 |
33,677,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0234:Rbp3
|
UTSW |
14 |
33,677,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0432:Rbp3
|
UTSW |
14 |
33,676,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Rbp3
|
UTSW |
14 |
33,684,376 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0652:Rbp3
|
UTSW |
14 |
33,680,605 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0739:Rbp3
|
UTSW |
14 |
33,680,604 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0747:Rbp3
|
UTSW |
14 |
33,678,235 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0836:Rbp3
|
UTSW |
14 |
33,678,595 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1102:Rbp3
|
UTSW |
14 |
33,678,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1583:Rbp3
|
UTSW |
14 |
33,676,481 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1589:Rbp3
|
UTSW |
14 |
33,677,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1595:Rbp3
|
UTSW |
14 |
33,678,155 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1720:Rbp3
|
UTSW |
14 |
33,678,866 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1830:Rbp3
|
UTSW |
14 |
33,676,601 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1982:Rbp3
|
UTSW |
14 |
33,676,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1985:Rbp3
|
UTSW |
14 |
33,678,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1985:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Rbp3
|
UTSW |
14 |
33,678,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2138:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2183:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Rbp3
|
UTSW |
14 |
33,684,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2940:Rbp3
|
UTSW |
14 |
33,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Rbp3
|
UTSW |
14 |
33,676,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3111:Rbp3
|
UTSW |
14 |
33,676,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3155:Rbp3
|
UTSW |
14 |
33,679,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3156:Rbp3
|
UTSW |
14 |
33,679,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3751:Rbp3
|
UTSW |
14 |
33,677,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3752:Rbp3
|
UTSW |
14 |
33,677,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3851:Rbp3
|
UTSW |
14 |
33,677,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4016:Rbp3
|
UTSW |
14 |
33,677,347 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4276:Rbp3
|
UTSW |
14 |
33,680,607 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4277:Rbp3
|
UTSW |
14 |
33,680,607 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4278:Rbp3
|
UTSW |
14 |
33,680,607 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4382:Rbp3
|
UTSW |
14 |
33,677,253 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4383:Rbp3
|
UTSW |
14 |
33,677,253 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4385:Rbp3
|
UTSW |
14 |
33,677,253 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4625:Rbp3
|
UTSW |
14 |
33,678,056 (GRCm39) |
missense |
probably benign |
|
|
R4712:Rbp3
|
UTSW |
14 |
33,682,615 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4812:Rbp3
|
UTSW |
14 |
33,676,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4918:Rbp3
|
UTSW |
14 |
33,677,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Rbp3
|
UTSW |
14 |
33,676,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5262:Rbp3
|
UTSW |
14 |
33,676,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Rbp3
|
UTSW |
14 |
33,678,370 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5468:Rbp3
|
UTSW |
14 |
33,678,584 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5837:Rbp3
|
UTSW |
14 |
33,676,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5994:Rbp3
|
UTSW |
14 |
33,676,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Rbp3
|
UTSW |
14 |
33,676,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Rbp3
|
UTSW |
14 |
33,678,439 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6266:Rbp3
|
UTSW |
14 |
33,676,418 (GRCm39) |
missense |
probably benign |
|
|
R6357:Rbp3
|
UTSW |
14 |
33,678,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6457:Rbp3
|
UTSW |
14 |
33,677,224 (GRCm39) |
nonsense |
probably null |
|
|
R6777:Rbp3
|
UTSW |
14 |
33,676,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Rbp3
|
UTSW |
14 |
33,677,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7183:Rbp3
|
UTSW |
14 |
33,677,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7256:Rbp3
|
UTSW |
14 |
33,684,540 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7654:Rbp3
|
UTSW |
14 |
33,677,797 (GRCm39) |
missense |
probably benign |
|
|
R7756:Rbp3
|
UTSW |
14 |
33,676,732 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7758:Rbp3
|
UTSW |
14 |
33,676,732 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7784:Rbp3
|
UTSW |
14 |
33,676,115 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7845:Rbp3
|
UTSW |
14 |
33,678,421 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8176:Rbp3
|
UTSW |
14 |
33,677,605 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8281:Rbp3
|
UTSW |
14 |
33,678,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8393:Rbp3
|
UTSW |
14 |
33,678,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8552:Rbp3
|
UTSW |
14 |
33,677,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8717:Rbp3
|
UTSW |
14 |
33,678,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8730:Rbp3
|
UTSW |
14 |
33,677,795 (GRCm39) |
missense |
probably benign |
|
|
R8773:Rbp3
|
UTSW |
14 |
33,684,492 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8836:Rbp3
|
UTSW |
14 |
33,680,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8843:Rbp3
|
UTSW |
14 |
33,676,522 (GRCm39) |
missense |
probably benign |
|
|
R8880:Rbp3
|
UTSW |
14 |
33,678,796 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8941:Rbp3
|
UTSW |
14 |
33,678,486 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8971:Rbp3
|
UTSW |
14 |
33,677,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Rbp3
|
UTSW |
14 |
33,684,360 (GRCm39) |
nonsense |
probably null |
|
|
R8999:Rbp3
|
UTSW |
14 |
33,684,360 (GRCm39) |
nonsense |
probably null |
|
|
R9436:Rbp3
|
UTSW |
14 |
33,677,234 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9525:Rbp3
|
UTSW |
14 |
33,676,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Rbp3
|
UTSW |
14 |
33,677,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Rbp3
|
UTSW |
14 |
33,677,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Rbp3
|
UTSW |
14 |
33,677,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Rbp3
|
UTSW |
14 |
33,676,495 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTGCCGAAGAGTTTGC -3'
(R):5'- TCCCCAGGGCTATGGAATAC -3'
Sequencing Primer
(F):5'- GAAGAGTTTGCCTTCCTCATGCAG -3'
(R):5'- TGGAATACCAGCAGGCGGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation