Incidental Mutation 'R9153:Mertk'
| ID |
695126 |
| 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 |
068940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 128624487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 633
(A633S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014505
AA Change: A633S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: A633S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,481 (GRCm39) |
S711R |
possibly damaging |
Het |
| Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,259,229 (GRCm39) |
T618A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,302,845 (GRCm39) |
R58W |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,308,493 (GRCm39) |
|
probably benign |
Het |
| Borcs5 |
G |
T |
6: 134,618,108 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,906 (GRCm39) |
M25V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,188,162 (GRCm39) |
D527E |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,382,152 (GRCm39) |
D24N |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,159 (GRCm39) |
T703I |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,774,479 (GRCm39) |
S19G |
possibly damaging |
Het |
| Cdc25b |
G |
A |
2: 131,034,564 (GRCm39) |
E264K |
possibly damaging |
Het |
| Cdhr17 |
A |
T |
5: 17,040,916 (GRCm39) |
|
probably null |
Het |
| Cog5 |
A |
C |
12: 31,710,810 (GRCm39) |
K63N |
possibly damaging |
Het |
| Col28a1 |
G |
A |
6: 8,022,765 (GRCm39) |
T726I |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,365 (GRCm39) |
S219P |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,536,569 (GRCm39) |
W2162R |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,789,774 (GRCm39) |
*464R |
probably null |
Het |
| Eif1a |
T |
A |
18: 46,741,036 (GRCm39) |
D90E |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,706,496 (GRCm39) |
R996Q |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,787 (GRCm39) |
|
probably null |
Het |
| Frat2 |
A |
G |
19: 41,835,806 (GRCm39) |
L182P |
probably damaging |
Het |
| Fxyd2 |
G |
T |
9: 45,319,609 (GRCm39) |
V24F |
probably damaging |
Het |
| Gabrd |
C |
T |
4: 155,470,496 (GRCm39) |
V319I |
probably damaging |
Het |
| H13 |
T |
G |
2: 152,533,788 (GRCm39) |
V267G |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,573,378 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,125,421 (GRCm39) |
T272S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,844,547 (GRCm39) |
M454L |
probably benign |
Het |
| Irf8 |
T |
C |
8: 121,480,400 (GRCm39) |
C304R |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,001,941 (GRCm39) |
F614L |
probably benign |
Het |
| Itgb4 |
A |
C |
11: 115,874,879 (GRCm39) |
H412P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,678 (GRCm39) |
F921S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,541,327 (GRCm39) |
D189G |
probably damaging |
Het |
| Meis2 |
G |
T |
2: 115,697,756 (GRCm39) |
P381T |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,942,993 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,627 (GRCm39) |
T455S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,404,744 (GRCm39) |
N700S |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,896,782 (GRCm39) |
T807A |
unknown |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,703 (GRCm39) |
V195E |
unknown |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,514,429 (GRCm39) |
T126A |
possibly damaging |
Het |
| Oca2 |
C |
T |
7: 55,943,586 (GRCm39) |
T253I |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,286,733 (GRCm39) |
K166R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,306 (GRCm39) |
I103N |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,203,112 (GRCm39) |
K435R |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,131 (GRCm39) |
N175K |
possibly damaging |
Het |
| Per3 |
A |
G |
4: 151,111,796 (GRCm39) |
L396P |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,925,739 (GRCm39) |
E338V |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,064,725 (GRCm39) |
R1782S |
unknown |
Het |
| Prpf39 |
A |
T |
12: 65,106,671 (GRCm39) |
Q593L |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,416,126 (GRCm39) |
Y1724C |
probably damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,143 (GRCm39) |
V110D |
possibly damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,826,790 (GRCm39) |
L133Q |
probably damaging |
Het |
| Rgs10 |
G |
A |
7: 127,975,733 (GRCm39) |
R145C |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,833,855 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,293,188 (GRCm39) |
T843S |
probably benign |
Het |
| Senp7 |
G |
A |
16: 56,006,486 (GRCm39) |
V964I |
probably benign |
Het |
| Setd4 |
T |
A |
16: 93,384,722 (GRCm39) |
D322V |
possibly damaging |
Het |
| Sftpc |
T |
A |
14: 70,759,650 (GRCm39) |
T90S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,738 (GRCm39) |
D382E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,029 (GRCm39) |
R13G |
probably damaging |
Het |
| Slc12a1 |
T |
G |
2: 125,002,989 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,805 (GRCm39) |
F385S |
probably benign |
Het |
| Stk38l |
A |
G |
6: 146,660,048 (GRCm39) |
T27A |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,899,327 (GRCm39) |
S9P |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,290 (GRCm39) |
D114V |
probably damaging |
Het |
| Tmigd1 |
A |
T |
11: 76,795,468 (GRCm39) |
R25S |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,773,519 (GRCm39) |
Y1154N |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,045,091 (GRCm39) |
V3A |
|
Het |
| Ubr1 |
A |
T |
2: 120,756,469 (GRCm39) |
D719E |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,822 (GRCm39) |
K923R |
|
Het |
| Vmn2r12 |
C |
T |
5: 109,234,203 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,876,522 (GRCm39) |
S9P |
probably benign |
Het |
| Zfp986 |
A |
T |
4: 145,626,030 (GRCm39) |
H230L |
probably damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,241 (GRCm39) |
E216K |
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 |
|
|
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 |
|
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'- AAAAGTGCTGTTCCTGGTCCC -3'
(R):5'- GTTAACTCCATCAGCACCCAGG -3'
Sequencing Primer
(F):5'- CCACCCCTGAGCTGACCTTG -3'
(R):5'- GGTTTTACTCTCAGCCTCAGAAAG -3'
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| Posted On |
2022-01-20 |
Incidental Mutation