Incidental Mutation 'PIT4378001:Mertk'
| ID |
554968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mertk
|
| Ensembl Gene |
ENSMUSG00000014361 |
| Gene Name |
MER proto-oncogene tyrosine kinase |
| Synonyms |
nmf12, Tyro 12, Nyk, Eyk, Mer |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
PIT4378001 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not 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 128624537 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.0%
- 20x: 72.2%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
T |
C |
11: 59,099,802 (GRCm39) |
V100A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,117,601 (GRCm39) |
V188A |
possibly damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,646 (GRCm39) |
D80G |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,163,021 (GRCm39) |
L14P |
probably damaging |
Het |
| Arrdc1 |
T |
A |
2: 24,816,645 (GRCm39) |
Y177F |
probably damaging |
Het |
| Asap1 |
C |
T |
15: 64,007,697 (GRCm39) |
R384Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,096,443 (GRCm39) |
V433D |
probably benign |
Het |
| Bbs1 |
G |
A |
19: 4,941,703 (GRCm39) |
A529V |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,100,836 (GRCm39) |
R20* |
probably null |
Het |
| Bend5 |
T |
C |
4: 111,288,304 (GRCm39) |
V106A |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,944 (GRCm39) |
N8S |
probably benign |
Het |
| Cdc42ep1 |
G |
A |
15: 78,733,880 (GRCm39) |
D327N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Cep43 |
T |
C |
17: 8,401,105 (GRCm39) |
S209P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,945,728 (GRCm39) |
T3562A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,570,362 (GRCm39) |
S1815P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,697,320 (GRCm39) |
L136Q |
probably damaging |
Het |
| Extl2 |
T |
G |
3: 115,804,339 (GRCm39) |
M1R |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,104 (GRCm39) |
E473G |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,889 (GRCm39) |
D1618N |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,858 (GRCm39) |
L147P |
probably damaging |
Het |
| G6pc3 |
T |
A |
11: 102,080,827 (GRCm39) |
W26R |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,921,876 (GRCm39) |
Y610F |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,552,368 (GRCm39) |
D77G |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,816,860 (GRCm39) |
V497A |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
A |
C |
9: 44,302,148 (GRCm39) |
D968A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,692 (GRCm39) |
S1525T |
probably damaging |
Het |
| Kcnc4 |
G |
A |
3: 107,354,879 (GRCm39) |
T523I |
probably benign |
Het |
| Kcng1 |
C |
T |
2: 168,104,604 (GRCm39) |
C414Y |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,938,358 (GRCm39) |
T194S |
probably benign |
Het |
| Krt76 |
A |
C |
15: 101,800,842 (GRCm39) |
N151K |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,542 (GRCm39) |
T125A |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,831,238 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Lats1 |
T |
G |
10: 7,581,369 (GRCm39) |
V718G |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,616,910 (GRCm39) |
K4E |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,070,620 (GRCm39) |
V577A |
possibly damaging |
Het |
| Mtcl1 |
T |
G |
17: 66,745,274 (GRCm39) |
N381T |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,647,688 (GRCm39) |
|
probably null |
Het |
| Nol4 |
C |
A |
18: 23,172,933 (GRCm39) |
W56L |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,272 (GRCm39) |
D1849V |
probably damaging |
Het |
| Or10ad1 |
G |
A |
15: 98,105,452 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,381 (GRCm39) |
T207A |
probably benign |
Het |
| Or14c45 |
A |
T |
7: 86,176,306 (GRCm39) |
T114S |
possibly damaging |
Het |
| Or4n4b |
T |
C |
14: 50,536,355 (GRCm39) |
N137S |
probably benign |
Het |
| Or5an10 |
A |
G |
19: 12,276,076 (GRCm39) |
M140T |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,471 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8s5 |
A |
G |
15: 98,238,153 (GRCm39) |
V239A |
possibly damaging |
Het |
| Oxr1 |
G |
A |
15: 41,664,978 (GRCm39) |
V138I |
probably benign |
Het |
| Pars2 |
A |
G |
4: 106,511,490 (GRCm39) |
E424G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,405,726 (GRCm39) |
Y50* |
probably null |
Het |
| Plag1 |
T |
A |
4: 3,905,492 (GRCm39) |
H66L |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,801,423 (GRCm39) |
S1016C |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,816,460 (GRCm39) |
V723A |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,778,280 (GRCm39) |
D292E |
unknown |
Het |
| Skint4 |
T |
A |
4: 111,944,232 (GRCm39) |
C23S |
probably benign |
Het |
| Slc22a28 |
A |
C |
19: 8,049,279 (GRCm39) |
S323R |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,891 (GRCm39) |
T306A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,987,445 (GRCm39) |
M868V |
probably damaging |
Het |
| Spata6 |
T |
G |
4: 111,603,378 (GRCm39) |
I31S |
possibly damaging |
Het |
| Sycp3 |
A |
T |
10: 88,302,366 (GRCm39) |
K119* |
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,172,046 (GRCm39) |
S739T |
unknown |
Het |
| Trim10 |
T |
C |
17: 37,188,020 (GRCm39) |
V412A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,211,765 (GRCm39) |
F377I |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,143,681 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,530,377 (GRCm39) |
R152* |
probably null |
Het |
| Usp44 |
A |
G |
10: 93,681,517 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
A |
C |
11: 68,980,564 (GRCm39) |
D44A |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,304,849 (GRCm39) |
T20A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,221,784 (GRCm39) |
I812N |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,943 (GRCm39) |
L231R |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,859,333 (GRCm39) |
T677A |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,148,100 (GRCm39) |
S221R |
possibly damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,983 (GRCm39) |
E125G |
possibly damaging |
Het |
| Zxdc |
A |
T |
6: 90,350,698 (GRCm39) |
H383L |
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 |
|
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 |
|
|
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'- AAAGTGCTGTTCCTGGTCCC -3'
(R):5'- GGTTAACTCCATCAGCACCC -3'
Sequencing Primer
(F):5'- CCCTGAGCTGACCTTGTTGG -3'
(R):5'- CAGGAAACACAAACCCGGTTTTACTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation