Incidental Mutation 'R0118:Mertk'
ID |
20907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mertk
|
Ensembl Gene |
ENSMUSG00000014361 |
Gene Name |
MER proto-oncogene tyrosine kinase |
Synonyms |
nmf12, Tyro 12, Nyk, Eyk, Mer |
MMRRC Submission |
038404-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R0118 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 128601086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 357
(R357W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
AlphaFold |
Q60805 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014505
AA Change: R357W
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000014505 Gene: ENSMUSG00000014361 AA Change: R357W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
94 |
189 |
8.99e-6 |
SMART |
IG
|
198 |
276 |
1.54e-4 |
SMART |
FN3
|
279 |
363 |
7.23e-8 |
SMART |
FN3
|
379 |
465 |
6.16e-2 |
SMART |
transmembrane domain
|
498 |
520 |
N/A |
INTRINSIC |
TyrKc
|
582 |
849 |
2.88e-129 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 89.3%
- 20x: 67.4%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations show increased sensitivity to LPS-induced shock, defective phagocytosis of apoptotic cells, lupus-like autoimmunity, degeneration of photoreceptors, decreased platelet aggregation and protection from induced pulmonary thromboembolism and thrombosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
C |
9: 30,823,040 (GRCm39) |
R343G |
probably damaging |
Het |
Asxl2 |
T |
G |
12: 3,546,923 (GRCm39) |
V569G |
probably damaging |
Het |
Azin2 |
A |
C |
4: 128,843,430 (GRCm39) |
H85Q |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,262,712 (GRCm39) |
R324C |
probably damaging |
Het |
Ccr3 |
C |
A |
9: 123,829,647 (GRCm39) |
Y327* |
probably null |
Het |
Cers2 |
T |
C |
3: 95,227,537 (GRCm39) |
F55S |
probably benign |
Het |
Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 45,037,326 (GRCm39) |
|
probably null |
Het |
Cpn2 |
T |
C |
16: 30,079,186 (GRCm39) |
R172G |
probably benign |
Het |
Ctdnep1 |
T |
C |
11: 69,879,557 (GRCm39) |
|
probably null |
Het |
Dennd3 |
T |
A |
15: 73,436,925 (GRCm39) |
Y1051N |
probably damaging |
Het |
Dmap1 |
T |
G |
4: 117,533,680 (GRCm39) |
Y196S |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,692,751 (GRCm39) |
W102* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,442,664 (GRCm39) |
C2624* |
probably null |
Het |
Gdpd3 |
A |
G |
7: 126,370,165 (GRCm39) |
Y238C |
probably damaging |
Het |
Gjb3 |
A |
G |
4: 127,220,451 (GRCm39) |
V27A |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,720,042 (GRCm39) |
F1465L |
probably damaging |
Het |
Klra17 |
A |
T |
6: 129,808,552 (GRCm39) |
M227K |
probably benign |
Het |
Map6 |
A |
G |
7: 98,966,824 (GRCm39) |
D348G |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,855,696 (GRCm39) |
S1472P |
probably benign |
Het |
Megf6 |
C |
A |
4: 154,339,098 (GRCm39) |
P545Q |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,544,835 (GRCm39) |
I104N |
probably damaging |
Het |
Mrm3 |
T |
A |
11: 76,140,781 (GRCm39) |
V263E |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,405,210 (GRCm39) |
Y488* |
probably null |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Nfs1 |
T |
C |
2: 155,976,444 (GRCm39) |
H150R |
probably damaging |
Het |
Odad3 |
A |
T |
9: 21,906,353 (GRCm39) |
N224K |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,035 (GRCm39) |
M275T |
probably benign |
Het |
Or8b56 |
T |
C |
9: 38,739,154 (GRCm39) |
S50P |
possibly damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,399 (GRCm39) |
M1K |
probably null |
Het |
Or9q1 |
A |
G |
19: 13,804,929 (GRCm39) |
F277S |
possibly damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,848 (GRCm39) |
Y1059C |
probably damaging |
Het |
Pik3r5 |
T |
A |
11: 68,381,306 (GRCm39) |
L164Q |
probably damaging |
Het |
Polr3g |
T |
C |
13: 81,824,240 (GRCm39) |
|
probably benign |
Het |
Ppm1e |
T |
A |
11: 87,122,564 (GRCm39) |
K464N |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,416,631 (GRCm39) |
T1037A |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 91,996,750 (GRCm39) |
I108N |
probably damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Spem1 |
T |
C |
11: 69,712,371 (GRCm39) |
K98E |
possibly damaging |
Het |
St7l |
T |
C |
3: 104,796,619 (GRCm39) |
V237A |
probably damaging |
Het |
Tbc1d16 |
T |
C |
11: 119,048,642 (GRCm39) |
H337R |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 55,893,701 (GRCm39) |
I1291F |
probably benign |
Het |
Tnfaip6 |
G |
T |
2: 51,933,827 (GRCm39) |
E61* |
probably null |
Het |
Trib2 |
A |
T |
12: 15,843,929 (GRCm39) |
W102R |
probably damaging |
Het |
Uimc1 |
G |
T |
13: 55,233,457 (GRCm39) |
N66K |
probably damaging |
Het |
Vmn1r63 |
T |
A |
7: 5,805,838 (GRCm39) |
T265S |
probably benign |
Het |
Vps35 |
G |
A |
8: 86,021,582 (GRCm39) |
T3I |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,975,692 (GRCm39) |
L63* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,869,866 (GRCm39) |
R304G |
probably benign |
Het |
|
Other mutations in Mertk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01540:Mertk
|
APN |
2 |
128,625,887 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01561:Mertk
|
APN |
2 |
128,578,556 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01873:Mertk
|
APN |
2 |
128,571,195 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02539:Mertk
|
APN |
2 |
128,643,210 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Mertk
|
APN |
2 |
128,643,190 (GRCm39) |
missense |
probably benign |
|
IGL02962:Mertk
|
APN |
2 |
128,619,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Mertk
|
APN |
2 |
128,632,192 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Mertk
|
UTSW |
2 |
128,624,537 (GRCm39) |
critical splice donor site |
probably null |
|
R0281:Mertk
|
UTSW |
2 |
128,624,541 (GRCm39) |
splice site |
probably benign |
|
R0491:Mertk
|
UTSW |
2 |
128,635,027 (GRCm39) |
critical splice donor site |
probably null |
|
R0565:Mertk
|
UTSW |
2 |
128,613,403 (GRCm39) |
missense |
probably benign |
0.20 |
R0628:Mertk
|
UTSW |
2 |
128,580,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1260:Mertk
|
UTSW |
2 |
128,604,072 (GRCm39) |
missense |
probably benign |
0.03 |
R1406:Mertk
|
UTSW |
2 |
128,613,406 (GRCm39) |
missense |
probably benign |
0.00 |
R1406:Mertk
|
UTSW |
2 |
128,613,406 (GRCm39) |
missense |
probably benign |
0.00 |
R1423:Mertk
|
UTSW |
2 |
128,620,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Mertk
|
UTSW |
2 |
128,632,248 (GRCm39) |
critical splice donor site |
probably null |
|
R1539:Mertk
|
UTSW |
2 |
128,624,446 (GRCm39) |
missense |
probably benign |
0.05 |
R1680:Mertk
|
UTSW |
2 |
128,643,556 (GRCm39) |
missense |
probably benign |
0.03 |
R1770:Mertk
|
UTSW |
2 |
128,592,094 (GRCm39) |
missense |
probably benign |
0.10 |
R1832:Mertk
|
UTSW |
2 |
128,604,132 (GRCm39) |
missense |
probably benign |
0.10 |
R1870:Mertk
|
UTSW |
2 |
128,643,116 (GRCm39) |
missense |
probably benign |
0.01 |
R1959:Mertk
|
UTSW |
2 |
128,601,010 (GRCm39) |
missense |
probably damaging |
0.98 |
R2078:Mertk
|
UTSW |
2 |
128,636,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Mertk
|
UTSW |
2 |
128,604,058 (GRCm39) |
missense |
probably benign |
|
R2178:Mertk
|
UTSW |
2 |
128,634,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Mertk
|
UTSW |
2 |
128,643,392 (GRCm39) |
missense |
probably benign |
0.18 |
R4128:Mertk
|
UTSW |
2 |
128,619,358 (GRCm39) |
nonsense |
probably null |
|
R4664:Mertk
|
UTSW |
2 |
128,643,132 (GRCm39) |
missense |
probably benign |
0.24 |
R4740:Mertk
|
UTSW |
2 |
128,593,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Mertk
|
UTSW |
2 |
128,643,225 (GRCm39) |
missense |
probably benign |
0.00 |
R4839:Mertk
|
UTSW |
2 |
128,624,496 (GRCm39) |
missense |
probably damaging |
0.97 |
R4874:Mertk
|
UTSW |
2 |
128,592,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4899:Mertk
|
UTSW |
2 |
128,625,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R5010:Mertk
|
UTSW |
2 |
128,625,920 (GRCm39) |
missense |
probably benign |
0.03 |
R5128:Mertk
|
UTSW |
2 |
128,580,167 (GRCm39) |
missense |
probably damaging |
0.97 |
R5251:Mertk
|
UTSW |
2 |
128,571,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Mertk
|
UTSW |
2 |
128,643,234 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5397:Mertk
|
UTSW |
2 |
128,613,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5575:Mertk
|
UTSW |
2 |
128,578,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Mertk
|
UTSW |
2 |
128,580,227 (GRCm39) |
missense |
probably benign |
0.43 |
R5705:Mertk
|
UTSW |
2 |
128,613,321 (GRCm39) |
missense |
probably benign |
0.00 |
R5987:Mertk
|
UTSW |
2 |
128,613,294 (GRCm39) |
missense |
probably benign |
0.01 |
R6127:Mertk
|
UTSW |
2 |
128,580,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R6556:Mertk
|
UTSW |
2 |
128,618,341 (GRCm39) |
missense |
probably benign |
0.23 |
R6671:Mertk
|
UTSW |
2 |
128,593,943 (GRCm39) |
critical splice donor site |
probably null |
|
R6674:Mertk
|
UTSW |
2 |
128,571,277 (GRCm39) |
missense |
probably benign |
|
R6841:Mertk
|
UTSW |
2 |
128,601,150 (GRCm39) |
splice site |
probably null |
|
R7153:Mertk
|
UTSW |
2 |
128,578,569 (GRCm39) |
missense |
probably damaging |
0.99 |
R7192:Mertk
|
UTSW |
2 |
128,635,028 (GRCm39) |
splice site |
probably null |
|
R7225:Mertk
|
UTSW |
2 |
128,643,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7344:Mertk
|
UTSW |
2 |
128,613,417 (GRCm39) |
missense |
probably benign |
|
R7414:Mertk
|
UTSW |
2 |
128,571,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7883:Mertk
|
UTSW |
2 |
128,618,265 (GRCm39) |
missense |
probably benign |
0.01 |
R8000:Mertk
|
UTSW |
2 |
128,613,418 (GRCm39) |
missense |
probably benign |
|
R8953:Mertk
|
UTSW |
2 |
128,620,716 (GRCm39) |
intron |
probably benign |
|
R9135:Mertk
|
UTSW |
2 |
128,604,035 (GRCm39) |
missense |
probably benign |
0.23 |
R9153:Mertk
|
UTSW |
2 |
128,624,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Mertk
|
UTSW |
2 |
128,620,892 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9443:Mertk
|
UTSW |
2 |
128,604,029 (GRCm39) |
missense |
probably benign |
0.00 |
R9574:Mertk
|
UTSW |
2 |
128,593,880 (GRCm39) |
missense |
probably benign |
0.03 |
R9582:Mertk
|
UTSW |
2 |
128,624,527 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9616:Mertk
|
UTSW |
2 |
128,643,255 (GRCm39) |
missense |
probably benign |
0.01 |
X0067:Mertk
|
UTSW |
2 |
128,571,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGCACAGAGGAAGGGCTAC -3'
(R):5'- ACTGGCTTTAAAAGTGTTGCCGC -3'
Sequencing Primer
(F):5'- ACATCTGCGTGCCCAAGTC -3'
(R):5'- cacccgactgctcttcc -3'
|
Posted On |
2013-04-11 |