Incidental Mutation 'PIT4378001:Mertk'
| ID |
554968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mertk
|
| Ensembl Gene |
ENSMUSG00000014361 |
| Gene Name |
c-mer proto-oncogene tyrosine kinase |
| Synonyms |
Nyk, nmf12, Tyro 12, Eyk, Mer |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
PIT4378001 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128698956-128802894 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 128782617 bp (GRCm38)
|
| 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 |
|---|
| 2010111I01Rik |
T |
C |
13: 63,015,207 (GRCm38) |
L14P |
probably damaging |
Het |
| 2310033P09Rik |
T |
C |
11: 59,208,976 (GRCm38) |
V100A |
probably benign |
Het |
| 9530053A07Rik |
G |
A |
7: 28,154,464 (GRCm38) |
D1618N |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,199,364 (GRCm38) |
V188A |
possibly damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,441,872 (GRCm38) |
D80G |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,455,263 (GRCm38) |
Q62R |
possibly damaging |
Het |
| Arrdc1 |
T |
A |
2: 24,926,633 (GRCm38) |
Y177F |
probably damaging |
Het |
| Asap1 |
C |
T |
15: 64,135,848 (GRCm38) |
R384Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,497,271 (GRCm38) |
V433D |
probably benign |
Het |
| Bbs1 |
G |
A |
19: 4,891,675 (GRCm38) |
A529V |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,280,473 (GRCm38) |
R20* |
probably null |
Het |
| Bend5 |
T |
C |
4: 111,431,107 (GRCm38) |
V106A |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,944 (GRCm38) |
N8S |
probably benign |
Het |
| Cdc42ep1 |
G |
A |
15: 78,849,680 (GRCm38) |
D327N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,217,145 (GRCm38) |
S767P |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 15,895,728 (GRCm38) |
T3562A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,531,203 (GRCm38) |
S1815P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,786,024 (GRCm38) |
L136Q |
probably damaging |
Het |
| Extl2 |
T |
G |
3: 116,010,690 (GRCm38) |
M1R |
probably null |
Het |
| Fam160a1 |
A |
G |
3: 85,730,551 (GRCm38) |
L147P |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,376,808 (GRCm38) |
E473G |
probably benign |
Het |
| Fgfr1op |
T |
C |
17: 8,182,273 (GRCm38) |
S209P |
probably damaging |
Het |
| G6pc3 |
T |
A |
11: 102,190,001 (GRCm38) |
W26R |
probably damaging |
Het |
| Hc |
T |
A |
2: 35,031,864 (GRCm38) |
Y610F |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,377,783 (GRCm38) |
D77G |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,611,862 (GRCm38) |
V497A |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,266,277 (GRCm38) |
|
probably benign |
Het |
| Hyou1 |
A |
C |
9: 44,390,851 (GRCm38) |
D968A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,229,913 (GRCm38) |
S1525T |
probably damaging |
Het |
| Kcnc4 |
G |
A |
3: 107,447,563 (GRCm38) |
T523I |
probably benign |
Het |
| Kcng1 |
C |
T |
2: 168,262,684 (GRCm38) |
C414Y |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,412 (GRCm38) |
I204T |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 102,029,923 (GRCm38) |
T194S |
probably benign |
Het |
| Krt76 |
A |
C |
15: 101,892,407 (GRCm38) |
N151K |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,936,716 (GRCm38) |
T125A |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 180,189,445 (GRCm38) |
V1807A |
possibly damaging |
Het |
| Lats1 |
T |
G |
10: 7,705,605 (GRCm38) |
V718G |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,164,260 (GRCm38) |
K4E |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,228,700 (GRCm38) |
V577A |
possibly damaging |
Het |
| Mtcl1 |
T |
G |
17: 66,438,279 (GRCm38) |
N381T |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,790,491 (GRCm38) |
|
probably null |
Het |
| Nol4 |
C |
A |
18: 23,039,876 (GRCm38) |
W56L |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,142,956 (GRCm38) |
D1849V |
probably damaging |
Het |
| Olfr1406 |
T |
C |
1: 173,183,814 (GRCm38) |
T207A |
probably benign |
Het |
| Olfr1436 |
A |
G |
19: 12,298,712 (GRCm38) |
M140T |
probably damaging |
Het |
| Olfr284 |
A |
G |
15: 98,340,272 (GRCm38) |
V239A |
possibly damaging |
Het |
| Olfr287 |
G |
A |
15: 98,207,571 (GRCm38) |
T271I |
probably damaging |
Het |
| Olfr297 |
A |
T |
7: 86,527,098 (GRCm38) |
T114S |
possibly damaging |
Het |
| Olfr733 |
T |
C |
14: 50,298,898 (GRCm38) |
N137S |
probably benign |
Het |
| Olfr846 |
T |
A |
9: 19,361,175 (GRCm38) |
Y60F |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,801,582 (GRCm38) |
V138I |
probably benign |
Het |
| Pars2 |
A |
G |
4: 106,654,293 (GRCm38) |
E424G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,168,269 (GRCm38) |
Y50* |
probably null |
Het |
| Plag1 |
T |
A |
4: 3,905,492 (GRCm38) |
H66L |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,821,079 (GRCm38) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 73,004,535 (GRCm38) |
S1016C |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,974,540 (GRCm38) |
V723A |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,921,083 (GRCm38) |
D292E |
unknown |
Het |
| Skint4 |
T |
A |
4: 112,087,035 (GRCm38) |
C23S |
probably benign |
Het |
| Slc22a28 |
A |
C |
19: 8,071,914 (GRCm38) |
S323R |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,640,909 (GRCm38) |
T306A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,749,996 (GRCm38) |
M868V |
probably damaging |
Het |
| Spata6 |
T |
G |
4: 111,746,181 (GRCm38) |
I31S |
possibly damaging |
Het |
| Sycp3 |
A |
T |
10: 88,466,504 (GRCm38) |
K119* |
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,281,220 (GRCm38) |
S739T |
unknown |
Het |
| Trim10 |
T |
C |
17: 36,877,128 (GRCm38) |
V412A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,410,906 (GRCm38) |
F377I |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,256,034 (GRCm38) |
H283L |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 54,995,868 (GRCm38) |
Y122H |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,544,622 (GRCm38) |
R152* |
probably null |
Het |
| Usp44 |
A |
G |
10: 93,845,655 (GRCm38) |
|
probably benign |
Het |
| Vamp2 |
A |
C |
11: 69,089,738 (GRCm38) |
D44A |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,469,015 (GRCm38) |
T20A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,385,915 (GRCm38) |
I812N |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,649,169 (GRCm38) |
L231R |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,820,173 (GRCm38) |
T677A |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,548,865 (GRCm38) |
S221R |
possibly damaging |
Het |
| Zscan22 |
A |
G |
7: 12,904,056 (GRCm38) |
E125G |
possibly damaging |
Het |
| Zxdc |
A |
T |
6: 90,373,716 (GRCm38) |
H383L |
probably damaging |
Het |
|
| Other mutations in Mertk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Mertk
|
APN |
2 |
128,783,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01561:Mertk
|
APN |
2 |
128,736,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01873:Mertk
|
APN |
2 |
128,729,275 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02539:Mertk
|
APN |
2 |
128,801,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02652:Mertk
|
APN |
2 |
128,801,270 (GRCm38) |
missense |
probably benign |
|
|
IGL02962:Mertk
|
APN |
2 |
128,777,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03237:Mertk
|
APN |
2 |
128,790,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0118:Mertk
|
UTSW |
2 |
128,759,166 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0281:Mertk
|
UTSW |
2 |
128,782,621 (GRCm38) |
splice site |
probably benign |
|
|
R0491:Mertk
|
UTSW |
2 |
128,793,107 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0565:Mertk
|
UTSW |
2 |
128,771,483 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0628:Mertk
|
UTSW |
2 |
128,738,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1260:Mertk
|
UTSW |
2 |
128,762,152 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1406:Mertk
|
UTSW |
2 |
128,771,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1406:Mertk
|
UTSW |
2 |
128,771,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1423:Mertk
|
UTSW |
2 |
128,778,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1523:Mertk
|
UTSW |
2 |
128,790,328 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1539:Mertk
|
UTSW |
2 |
128,782,526 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1680:Mertk
|
UTSW |
2 |
128,801,636 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1770:Mertk
|
UTSW |
2 |
128,750,174 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1832:Mertk
|
UTSW |
2 |
128,762,212 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1870:Mertk
|
UTSW |
2 |
128,801,196 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1959:Mertk
|
UTSW |
2 |
128,759,090 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2078:Mertk
|
UTSW |
2 |
128,794,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2125:Mertk
|
UTSW |
2 |
128,762,138 (GRCm38) |
missense |
probably benign |
|
|
R2178:Mertk
|
UTSW |
2 |
128,793,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2220:Mertk
|
UTSW |
2 |
128,801,472 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4128:Mertk
|
UTSW |
2 |
128,777,438 (GRCm38) |
nonsense |
probably null |
|
|
R4664:Mertk
|
UTSW |
2 |
128,801,212 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4740:Mertk
|
UTSW |
2 |
128,751,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Mertk
|
UTSW |
2 |
128,801,305 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4839:Mertk
|
UTSW |
2 |
128,782,576 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4874:Mertk
|
UTSW |
2 |
128,750,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4899:Mertk
|
UTSW |
2 |
128,783,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5010:Mertk
|
UTSW |
2 |
128,784,000 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5128:Mertk
|
UTSW |
2 |
128,738,247 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5251:Mertk
|
UTSW |
2 |
128,729,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5276:Mertk
|
UTSW |
2 |
128,801,314 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5397:Mertk
|
UTSW |
2 |
128,771,464 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5575:Mertk
|
UTSW |
2 |
128,736,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5605:Mertk
|
UTSW |
2 |
128,738,307 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5705:Mertk
|
UTSW |
2 |
128,771,401 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5987:Mertk
|
UTSW |
2 |
128,771,374 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6127:Mertk
|
UTSW |
2 |
128,738,291 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6556:Mertk
|
UTSW |
2 |
128,776,421 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6671:Mertk
|
UTSW |
2 |
128,752,023 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6674:Mertk
|
UTSW |
2 |
128,729,357 (GRCm38) |
missense |
probably benign |
|
|
R6841:Mertk
|
UTSW |
2 |
128,759,230 (GRCm38) |
splice site |
probably null |
|
|
R7153:Mertk
|
UTSW |
2 |
128,736,649 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7192:Mertk
|
UTSW |
2 |
128,793,108 (GRCm38) |
splice site |
probably null |
|
|
R7225:Mertk
|
UTSW |
2 |
128,801,562 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7344:Mertk
|
UTSW |
2 |
128,771,497 (GRCm38) |
missense |
probably benign |
|
|
R7414:Mertk
|
UTSW |
2 |
128,729,393 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7883:Mertk
|
UTSW |
2 |
128,776,345 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8000:Mertk
|
UTSW |
2 |
128,771,498 (GRCm38) |
missense |
probably benign |
|
|
R8953:Mertk
|
UTSW |
2 |
128,778,796 (GRCm38) |
intron |
probably benign |
|
|
R9135:Mertk
|
UTSW |
2 |
128,762,115 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9153:Mertk
|
UTSW |
2 |
128,782,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9176:Mertk
|
UTSW |
2 |
128,778,972 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9443:Mertk
|
UTSW |
2 |
128,762,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9574:Mertk
|
UTSW |
2 |
128,751,960 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9582:Mertk
|
UTSW |
2 |
128,782,607 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9616:Mertk
|
UTSW |
2 |
128,801,335 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0067:Mertk
|
UTSW |
2 |
128,729,567 (GRCm38) |
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