Incidental Mutation 'R0491:Mertk'
| ID |
42453 |
| 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 |
038689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R0491 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 128635027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014505
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140221
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (65/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,248,235 (GRCm39) |
F2661L |
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,031,836 (GRCm39) |
D224G |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,667,457 (GRCm39) |
D465G |
probably damaging |
Het |
| Akap9 |
A |
T |
5: 4,022,851 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,679,582 (GRCm39) |
T3240A |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,555,075 (GRCm39) |
W417R |
probably damaging |
Het |
| Arfgef1 |
C |
A |
1: 10,250,212 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,614,913 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,016,746 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,287,515 (GRCm39) |
F740L |
probably benign |
Het |
| Clec12a |
T |
A |
6: 129,341,016 (GRCm39) |
D265E |
probably benign |
Het |
| Clic3 |
T |
A |
2: 25,347,797 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,909,859 (GRCm39) |
T749P |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,211,727 (GRCm39) |
S356T |
probably damaging |
Het |
| Crxos |
T |
A |
7: 15,632,460 (GRCm39) |
S89T |
probably benign |
Het |
| Cxcr1 |
G |
T |
1: 74,231,468 (GRCm39) |
P185T |
possibly damaging |
Het |
| Cyp20a1 |
T |
A |
1: 60,410,486 (GRCm39) |
N262K |
possibly damaging |
Het |
| Dennd2b |
T |
A |
7: 109,156,411 (GRCm39) |
Q113L |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,324 (GRCm39) |
R46G |
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,045,411 (GRCm39) |
L454Q |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
| Eppin |
T |
A |
2: 164,431,332 (GRCm39) |
E98V |
possibly damaging |
Het |
| Fancm |
A |
T |
12: 65,152,835 (GRCm39) |
H1097L |
probably benign |
Het |
| Fkbp4 |
A |
G |
6: 128,412,705 (GRCm39) |
I75T |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,409,525 (GRCm39) |
H586R |
unknown |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,521,083 (GRCm39) |
V185G |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,772,114 (GRCm39) |
C1098S |
possibly damaging |
Het |
| Hic1 |
C |
A |
11: 75,057,136 (GRCm39) |
L584F |
possibly damaging |
Het |
| Itgb1bp1 |
C |
A |
12: 21,326,896 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,757,374 (GRCm39) |
R121* |
probably null |
Het |
| Lgr4 |
C |
T |
2: 109,837,626 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
T |
C |
2: 85,022,264 (GRCm39) |
E309G |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,294 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,762,592 (GRCm39) |
A287V |
probably benign |
Het |
| Mpzl2 |
A |
G |
9: 44,954,039 (GRCm39) |
Y47C |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,415,752 (GRCm39) |
R2899S |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,794,857 (GRCm39) |
Y1078H |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,969,179 (GRCm39) |
V611G |
probably damaging |
Het |
| Ntpcr |
C |
T |
8: 126,464,093 (GRCm39) |
R73* |
probably null |
Het |
| Or4c120 |
A |
T |
2: 89,000,704 (GRCm39) |
V284E |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,664,709 (GRCm39) |
F88S |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 29,979,889 (GRCm39) |
T711S |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,285,602 (GRCm39) |
K278E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,486,065 (GRCm39) |
T408A |
probably benign |
Het |
| Prss41 |
T |
C |
17: 24,061,477 (GRCm39) |
T105A |
possibly damaging |
Het |
| Psme1 |
G |
T |
14: 55,817,378 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,444,036 (GRCm39) |
Y1523N |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,828,086 (GRCm39) |
D470G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,375,795 (GRCm39) |
|
probably benign |
Het |
| Slc25a54 |
G |
A |
3: 109,010,112 (GRCm39) |
A204T |
probably damaging |
Het |
| Spink10 |
T |
C |
18: 62,793,036 (GRCm39) |
C67R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,314,138 (GRCm39) |
|
probably null |
Het |
| Tprkb |
A |
G |
6: 85,901,446 (GRCm39) |
D28G |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,910,098 (GRCm39) |
H747R |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,259,302 (GRCm39) |
S1608G |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,596,774 (GRCm39) |
F2115L |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,361 (GRCm39) |
I46L |
probably benign |
Het |
| Zdhhc8 |
A |
T |
16: 18,046,254 (GRCm39) |
M103K |
probably damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,369 (GRCm39) |
G298E |
probably damaging |
Het |
| Zfp738 |
T |
G |
13: 67,818,140 (GRCm39) |
H617P |
possibly damaging |
Het |
| Zfp9 |
A |
T |
6: 118,442,163 (GRCm39) |
H166Q |
probably damaging |
Het |
| Zp3r |
C |
A |
1: 130,546,071 (GRCm39) |
D80Y |
probably damaging |
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 |
|
|
R0118:Mertk
|
UTSW |
2 |
128,601,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0281:Mertk
|
UTSW |
2 |
128,624,541 (GRCm39) |
splice site |
probably benign |
|
|
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'- GATTAAATGCCCTGTTCCGCTGAGG -3'
(R):5'- TCATAGCATGTGTGAGGTCCCAGAG -3'
Sequencing Primer
(F):5'- TTCCGCTGAGGACCAGAATTTAC -3'
(R):5'- TGTGAGGTCCCAGAGTCAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation