Incidental Mutation 'R7153:Mertk'
| ID |
554238 |
| 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 |
045255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R7153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128578569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 185
(Y185C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014505
AA Change: Y185C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: Y185C
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| Ano2 |
A |
G |
6: 125,969,906 (GRCm39) |
T741A |
possibly damaging |
Het |
| Aox4 |
T |
C |
1: 58,289,378 (GRCm39) |
M767T |
probably damaging |
Het |
| Arhgap39 |
C |
A |
15: 76,649,691 (GRCm39) |
S27I |
probably benign |
Het |
| AU018091 |
T |
A |
7: 3,209,353 (GRCm39) |
M296L |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,406,942 (GRCm39) |
T512A |
probably benign |
Het |
| B4galnt3 |
A |
T |
6: 120,191,929 (GRCm39) |
D602E |
probably benign |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Bsnd |
A |
T |
4: 106,349,230 (GRCm39) |
D3E |
probably benign |
Het |
| Btbd18 |
C |
T |
2: 84,496,772 (GRCm39) |
R137* |
probably null |
Het |
| C2cd5 |
A |
G |
6: 142,965,135 (GRCm39) |
S871P |
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,128 (GRCm39) |
P858Q |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,546,175 (GRCm39) |
|
probably null |
Het |
| Crb2 |
A |
T |
2: 37,677,420 (GRCm39) |
H304L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,840,662 (GRCm39) |
Y1812F |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,441,142 (GRCm39) |
K1070N |
possibly damaging |
Het |
| Defb22 |
T |
C |
2: 152,327,840 (GRCm39) |
K115R |
unknown |
Het |
| Dhx8 |
C |
T |
11: 101,631,001 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,365,668 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,165,964 (GRCm39) |
F543Y |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,585,071 (GRCm39) |
F270S |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,310,128 (GRCm39) |
M397V |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,043,164 (GRCm39) |
L74H |
probably damaging |
Het |
| Fbxl17 |
C |
A |
17: 63,367,346 (GRCm39) |
V676F |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 8,020,477 (GRCm39) |
V102A |
probably damaging |
Het |
| Gpalpp1 |
T |
C |
14: 76,332,451 (GRCm39) |
Y273C |
probably damaging |
Het |
| Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,411,463 (GRCm39) |
H225R |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,873,078 (GRCm39) |
S2411T |
probably benign |
Het |
| Hnmt |
C |
T |
2: 23,904,353 (GRCm39) |
A103T |
probably damaging |
Het |
| Ighv15-2 |
G |
T |
12: 114,528,210 (GRCm39) |
Y114* |
probably null |
Het |
| Irak2 |
A |
G |
6: 113,655,670 (GRCm39) |
H357R |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,499,014 (GRCm39) |
E320G |
probably damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,131 (GRCm39) |
L352S |
probably damaging |
Het |
| Krt36 |
G |
A |
11: 99,995,972 (GRCm39) |
Q151* |
probably null |
Het |
| Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
| Lca5l |
T |
A |
16: 95,975,009 (GRCm39) |
N305I |
probably damaging |
Het |
| Lefty1 |
T |
A |
1: 180,765,332 (GRCm39) |
L300Q |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,673,708 (GRCm39) |
I124T |
possibly damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,754,098 (GRCm39) |
E95G |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,348 (GRCm39) |
F283L |
possibly damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,246 (GRCm39) |
M59K |
probably damaging |
Het |
| Or4p19 |
A |
C |
2: 88,242,462 (GRCm39) |
L180W |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,278 (GRCm39) |
V123A |
probably damaging |
Het |
| Pcdhga2 |
T |
C |
18: 37,802,261 (GRCm39) |
V35A |
probably damaging |
Het |
| Pgd |
G |
T |
4: 149,246,135 (GRCm39) |
T94K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,941,487 (GRCm39) |
N1593S |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,935,452 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,273,784 (GRCm39) |
D491N |
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,088,740 (GRCm39) |
T688A |
probably damaging |
Het |
| Pycr2 |
T |
A |
1: 180,734,247 (GRCm39) |
L210M |
probably damaging |
Het |
| Rpl36 |
T |
C |
17: 56,921,137 (GRCm39) |
I81T |
probably benign |
Het |
| Rraga |
C |
T |
4: 86,494,253 (GRCm39) |
A33V |
probably damaging |
Het |
| Slc29a1 |
G |
A |
17: 45,896,688 (GRCm39) |
A429V |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,882,541 (GRCm39) |
E432A |
probably benign |
Het |
| Synj1 |
C |
T |
16: 90,744,978 (GRCm39) |
G1189R |
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,906,053 (GRCm39) |
*1088Q |
probably null |
Het |
| Tbc1d21 |
T |
C |
9: 58,270,376 (GRCm39) |
D133G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,009 (GRCm39) |
V2176A |
probably damaging |
Het |
| Tff1 |
A |
G |
17: 31,381,772 (GRCm39) |
I35T |
probably benign |
Het |
| Thnsl1 |
T |
C |
2: 21,217,764 (GRCm39) |
V506A |
possibly damaging |
Het |
| Timm10b |
A |
G |
7: 105,290,087 (GRCm39) |
Q50R |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,079,345 (GRCm39) |
N843K |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,057,298 (GRCm39) |
F101I |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,059,664 (GRCm39) |
F15L |
probably benign |
Het |
| Trav12-3 |
T |
C |
14: 53,859,618 (GRCm39) |
L88P |
probably benign |
Het |
| Ttc7b |
A |
T |
12: 100,321,293 (GRCm39) |
W613R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,608,848 (GRCm39) |
M17723L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,660 (GRCm39) |
D1840G |
unknown |
Het |
| Tubgcp2 |
T |
C |
7: 139,580,949 (GRCm39) |
H668R |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,460,681 (GRCm39) |
N2647K |
possibly damaging |
Het |
| Vmn1r14 |
C |
T |
6: 57,210,851 (GRCm39) |
S143F |
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
| Ywhab |
T |
C |
2: 163,855,980 (GRCm39) |
F119L |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,187,659 (GRCm39) |
D1108E |
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 |
|
|
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'- TAACGAATCTGAGGCCAGCC -3'
(R):5'- AGCATGCACAATCCTCTGGG -3'
Sequencing Primer
(F):5'- ACCTCAGTCTGCAGCTGATTAGAG -3'
(R):5'- ACAATCCTCTGGGCTCGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation