Incidental Mutation 'R1680:Mertk'
| ID |
188391 |
| 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 |
039716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R1680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128643556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 985
(D985G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014505
AA Change: D985G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: D985G
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,327 (GRCm39) |
H2870Q |
probably benign |
Het |
| Arhgef33 |
C |
T |
17: 80,655,080 (GRCm39) |
S95F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,521 (GRCm39) |
D827V |
probably damaging |
Het |
| Bcat1 |
T |
G |
6: 144,985,354 (GRCm39) |
D96A |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,855,741 (GRCm39) |
I184L |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,543,585 (GRCm39) |
L415M |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,728,183 (GRCm39) |
V617A |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,671,210 (GRCm39) |
A1050V |
unknown |
Het |
| Col5a3 |
C |
T |
9: 20,695,964 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,604,566 (GRCm39) |
T1059I |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,838,545 (GRCm39) |
V272A |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,923,361 (GRCm39) |
Q187R |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,497,103 (GRCm39) |
Y710H |
probably benign |
Het |
| Eef1a2 |
A |
T |
2: 180,794,734 (GRCm39) |
M155K |
possibly damaging |
Het |
| Entpd8 |
G |
A |
2: 24,974,036 (GRCm39) |
C331Y |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,552,722 (GRCm39) |
L1072R |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,824,291 (GRCm39) |
Y482C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,331,212 (GRCm39) |
S155P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,699,491 (GRCm39) |
S617P |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,753,567 (GRCm39) |
R840G |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,390,953 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Ints7 |
T |
G |
1: 191,353,274 (GRCm39) |
|
probably null |
Het |
| Ireb2 |
C |
T |
9: 54,788,802 (GRCm39) |
T92I |
probably damaging |
Het |
| Itprid1 |
C |
T |
6: 55,945,751 (GRCm39) |
T824I |
probably damaging |
Het |
| Kcnj8 |
A |
T |
6: 142,515,915 (GRCm39) |
L64* |
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 25,119,985 (GRCm39) |
V983A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 120,936,604 (GRCm39) |
S1307R |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,072,835 (GRCm39) |
Q709L |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,825 (GRCm39) |
D222G |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,441,824 (GRCm39) |
S295* |
probably null |
Het |
| Nlrp12 |
T |
A |
7: 3,289,804 (GRCm39) |
D236V |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
| Oasl1 |
A |
G |
5: 115,074,003 (GRCm39) |
D304G |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,940 (GRCm39) |
D271G |
possibly damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
| Or8g22 |
T |
C |
9: 38,958,296 (GRCm39) |
I140V |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,505 (GRCm39) |
V124I |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,257,812 (GRCm39) |
K604E |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,684,998 (GRCm39) |
V793E |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,108,231 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
A |
C |
10: 94,677,413 (GRCm39) |
L938R |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,460 (GRCm39) |
A381D |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,735,087 (GRCm39) |
L685P |
possibly damaging |
Het |
| Pxn |
T |
A |
5: 115,690,206 (GRCm39) |
V383E |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,016,703 (GRCm39) |
L632P |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,087,707 (GRCm39) |
S219T |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,682,262 (GRCm39) |
D2039G |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc5a6 |
A |
G |
5: 31,199,988 (GRCm39) |
Y131H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,391 (GRCm39) |
I492T |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,211,442 (GRCm39) |
K993E |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,109,371 (GRCm39) |
I75L |
possibly damaging |
Het |
| Syngap1 |
T |
C |
17: 27,171,553 (GRCm39) |
S46P |
possibly damaging |
Het |
| Tfcp2l1 |
T |
A |
1: 118,603,335 (GRCm39) |
F458I |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,087,840 (GRCm39) |
V102A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,324 (GRCm39) |
S34P |
unknown |
Het |
| Txlnb |
G |
T |
10: 17,718,981 (GRCm39) |
G604V |
probably benign |
Het |
| Ube2q1 |
A |
G |
3: 89,683,483 (GRCm39) |
T143A |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,542,828 (GRCm39) |
R361* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,851,666 (GRCm39) |
D1098G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,806 (GRCm39) |
T116S |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,345,249 (GRCm39) |
R6K |
probably benign |
Het |
| Zan |
T |
A |
5: 137,401,312 (GRCm39) |
T4136S |
unknown |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp606 |
A |
T |
7: 12,227,898 (GRCm39) |
H615L |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,510,617 (GRCm39) |
N433K |
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 |
|
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'- ACATTGACCCTGACTCCATCATTGC -3'
(R):5'- CTGTCCGGCCATGAACTCTACTTG -3'
Sequencing Primer
(F):5'- TGGTCACGGCAGAAGTTCAC -3'
(R):5'- gctctctgtctcctgcttg -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation