Incidental Mutation 'R3877:Tyro3'
| ID |
276886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyro3
|
| Ensembl Gene |
ENSMUSG00000027298 |
| Gene Name |
TYRO3 protein tyrosine kinase 3 |
| Synonyms |
Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk |
| MMRRC Submission |
040904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119643774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 745
(E745G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028763]
[ENSMUST00000110783]
|
| AlphaFold |
P55144 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028763
AA Change: E749G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: E749G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
114 |
1.29e-15 |
SMART |
|
IG
|
135 |
212 |
1.3e-2 |
SMART |
|
FN3
|
215 |
297 |
1.5e-5 |
SMART |
|
FN3
|
313 |
393 |
1.9e0 |
SMART |
|
transmembrane domain
|
419 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
508 |
776 |
1.18e-125 |
SMART |
|
low complexity region
|
817 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110783
AA Change: E745G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: E745G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
41 |
110 |
1.29e-15 |
SMART |
|
IG
|
131 |
208 |
1.3e-2 |
SMART |
|
FN3
|
211 |
293 |
1.5e-5 |
SMART |
|
FN3
|
309 |
389 |
1.9e0 |
SMART |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
TyrKc
|
504 |
772 |
1.18e-125 |
SMART |
|
low complexity region
|
813 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147761
|
| Meta Mutation Damage Score |
0.1658 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,249,671 (GRCm39) |
V594I |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,318,227 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
A |
C |
1: 25,150,906 (GRCm39) |
L1109R |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,864,717 (GRCm39) |
M1197K |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,239,742 (GRCm39) |
T1319A |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,575,764 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
C |
16: 44,610,374 (GRCm39) |
S161P |
possibly damaging |
Het |
| Ckap5 |
A |
G |
2: 91,445,495 (GRCm39) |
K1711E |
possibly damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,427 (GRCm39) |
S1900P |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,915,533 (GRCm39) |
N4334T |
probably damaging |
Het |
| Dpm2 |
G |
A |
2: 32,462,412 (GRCm39) |
|
probably null |
Het |
| Eef1a2 |
A |
T |
2: 180,794,626 (GRCm39) |
V191E |
probably damaging |
Het |
| Gmds |
G |
A |
13: 32,411,248 (GRCm39) |
T62I |
probably damaging |
Het |
| Hyal5 |
A |
T |
6: 24,876,630 (GRCm39) |
I168F |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,499,679 (GRCm39) |
V31A |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,264 (GRCm39) |
A1036E |
unknown |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,051,564 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,289,816 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,379,391 (GRCm39) |
T107M |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,255,547 (GRCm39) |
E184G |
probably benign |
Het |
| Mapre1 |
C |
T |
2: 153,588,201 (GRCm39) |
T8M |
possibly damaging |
Het |
| Mms19 |
G |
A |
19: 41,954,695 (GRCm39) |
Q75* |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,649,949 (GRCm39) |
I1390V |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,411,289 (GRCm39) |
S1412G |
unknown |
Het |
| Myh4 |
A |
T |
11: 67,148,009 (GRCm39) |
Q1686L |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,979 (GRCm39) |
D191V |
probably damaging |
Het |
| Or9s13 |
A |
T |
1: 92,547,805 (GRCm39) |
D59V |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,590,802 (GRCm39) |
I129F |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,216 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,850,529 (GRCm39) |
E918V |
probably damaging |
Het |
| Rpl5 |
A |
G |
5: 108,051,667 (GRCm39) |
T154A |
probably benign |
Het |
| Sall4 |
A |
C |
2: 168,598,162 (GRCm39) |
L195R |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,297,618 (GRCm39) |
S199P |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 43,994,416 (GRCm39) |
R859L |
unknown |
Het |
| Thsd7b |
A |
G |
1: 130,117,919 (GRCm39) |
E1445G |
possibly damaging |
Het |
| Tnfaip6 |
A |
G |
2: 51,942,339 (GRCm39) |
E216G |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,639,827 (GRCm39) |
T307A |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,637,277 (GRCm39) |
V354A |
probably benign |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,408 (GRCm39) |
I230N |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,491,357 (GRCm39) |
W297R |
probably damaging |
Het |
| Vrk3 |
A |
T |
7: 44,412,460 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,465,845 (GRCm39) |
V2001A |
probably benign |
Het |
| Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tyro3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Tyro3
|
APN |
2 |
119,643,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Tyro3
|
APN |
2 |
119,643,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02389:Tyro3
|
APN |
2 |
119,635,345 (GRCm39) |
splice site |
probably benign |
|
|
IGL02442:Tyro3
|
APN |
2 |
119,639,349 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4382001:Tyro3
|
UTSW |
2 |
119,632,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Tyro3
|
UTSW |
2 |
119,647,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Tyro3
|
UTSW |
2 |
119,632,182 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0503:Tyro3
|
UTSW |
2 |
119,633,711 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Tyro3
|
UTSW |
2 |
119,647,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Tyro3
|
UTSW |
2 |
119,632,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1902:Tyro3
|
UTSW |
2 |
119,632,176 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1980:Tyro3
|
UTSW |
2 |
119,639,298 (GRCm39) |
missense |
probably benign |
|
|
R2294:Tyro3
|
UTSW |
2 |
119,636,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4651:Tyro3
|
UTSW |
2 |
119,647,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Tyro3
|
UTSW |
2 |
119,647,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4698:Tyro3
|
UTSW |
2 |
119,633,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Tyro3
|
UTSW |
2 |
119,641,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Tyro3
|
UTSW |
2 |
119,632,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5193:Tyro3
|
UTSW |
2 |
119,640,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Tyro3
|
UTSW |
2 |
119,635,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Tyro3
|
UTSW |
2 |
119,641,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Tyro3
|
UTSW |
2 |
119,647,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Tyro3
|
UTSW |
2 |
119,643,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Tyro3
|
UTSW |
2 |
119,633,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6290:Tyro3
|
UTSW |
2 |
119,647,321 (GRCm39) |
missense |
probably benign |
|
|
R6293:Tyro3
|
UTSW |
2 |
119,638,481 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6366:Tyro3
|
UTSW |
2 |
119,647,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6712:Tyro3
|
UTSW |
2 |
119,635,335 (GRCm39) |
missense |
probably null |
0.44 |
|
R7645:Tyro3
|
UTSW |
2 |
119,647,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Tyro3
|
UTSW |
2 |
119,642,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Tyro3
|
UTSW |
2 |
119,642,589 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Tyro3
|
UTSW |
2 |
119,639,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Tyro3
|
UTSW |
2 |
119,640,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTTGGCTCAGGAAACC -3'
(R):5'- GGACATCGCCTCAATATTCTCC -3'
Sequencing Primer
(F):5'- TGCTTGGCTCAGGAAACCAATAAC -3'
(R):5'- TCAATATTCTCCCGTCCAGAAAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation