Incidental Mutation 'R7192:Mertk'
| ID |
574665 |
| 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 |
045333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 128635028 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (72/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
G |
A |
2: 30,686,188 (GRCm39) |
T329I |
probably damaging |
Het |
| Actl6a |
C |
A |
3: 32,774,373 (GRCm39) |
P290H |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,055,723 (GRCm39) |
|
probably null |
Het |
| Anxa2r2 |
T |
A |
13: 120,488,241 (GRCm39) |
K103* |
probably null |
Het |
| Bach1 |
C |
T |
16: 87,526,551 (GRCm39) |
S671L |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,633,210 (GRCm39) |
I1099V |
|
Het |
| Cage1 |
G |
T |
13: 38,203,220 (GRCm39) |
P615T |
probably benign |
Het |
| Caskin2 |
C |
A |
11: 115,692,202 (GRCm39) |
R861L |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,762,881 (GRCm39) |
T386A |
unknown |
Het |
| Ccndbp1 |
A |
G |
2: 120,843,424 (GRCm39) |
D272G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,983,599 (GRCm39) |
V1553E |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,667,033 (GRCm39) |
H414L |
probably damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,672 (GRCm39) |
G148D |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,608,432 (GRCm39) |
V1284A |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,705,667 (GRCm39) |
Y355C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,633 (GRCm39) |
V1266I |
|
Het |
| Cyfip2 |
T |
C |
11: 46,145,493 (GRCm39) |
E609G |
probably benign |
Het |
| Dbr1 |
T |
C |
9: 99,458,755 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,088,920 (GRCm39) |
Y2800H |
probably damaging |
Het |
| Dnajc6 |
G |
T |
4: 101,455,000 (GRCm39) |
A64S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,068 (GRCm39) |
N248I |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,379,569 (GRCm39) |
I2105F |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,805,965 (GRCm39) |
V89M |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,761,890 (GRCm39) |
Q528R |
probably benign |
Het |
| Epb42 |
A |
T |
2: 120,854,578 (GRCm39) |
V669D |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,034,613 (GRCm39) |
Q2755L |
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,054,475 (GRCm39) |
K135E |
possibly damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,955,201 (GRCm39) |
F325I |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,677,451 (GRCm39) |
E276K |
probably damaging |
Het |
| H4c17 |
A |
T |
13: 21,996,227 (GRCm39) |
K92* |
probably null |
Het |
| Ifi207 |
T |
C |
1: 173,556,584 (GRCm39) |
N718S |
not run |
Het |
| Il6st |
A |
G |
13: 112,631,741 (GRCm39) |
N427D |
probably benign |
Het |
| Kat7 |
T |
A |
11: 95,166,656 (GRCm39) |
M509L |
probably benign |
Het |
| Klk1b4 |
T |
C |
7: 43,859,045 (GRCm39) |
V21A |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,570,898 (GRCm39) |
L78Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,796,376 (GRCm39) |
L1016P |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,863 (GRCm39) |
I411V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,627,105 (GRCm39) |
D420V |
probably damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,575 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2w2 |
A |
G |
13: 21,758,539 (GRCm39) |
L29P |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,577 (GRCm39) |
E173G |
possibly damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,542 (GRCm39) |
D174G |
probably benign |
Het |
| Pcdha12 |
C |
T |
18: 37,153,316 (GRCm39) |
R12W |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,343,767 (GRCm39) |
D763Y |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,634,523 (GRCm39) |
V518A |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,335 (GRCm39) |
P433T |
unknown |
Het |
| Ptrh2 |
A |
G |
11: 86,580,835 (GRCm39) |
T151A |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,388,760 (GRCm39) |
N273K |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,717,638 (GRCm39) |
Y1154C |
probably benign |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,556 (GRCm39) |
D482V |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,357,013 (GRCm39) |
S74P |
probably benign |
Het |
| Serpinb2 |
A |
T |
1: 107,452,306 (GRCm39) |
I295F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,364,318 (GRCm39) |
D301E |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,149,348 (GRCm39) |
T1637I |
probably benign |
Het |
| Slc27a4 |
A |
T |
2: 29,695,941 (GRCm39) |
N159Y |
probably damaging |
Het |
| Stat1 |
A |
C |
1: 52,174,780 (GRCm39) |
K161Q |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,872 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,522,651 (GRCm39) |
W681R |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,062 (GRCm39) |
G687S |
probably damaging |
Het |
| Thnsl2 |
C |
T |
6: 71,116,739 (GRCm39) |
V138I |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1a |
T |
C |
6: 125,338,559 (GRCm39) |
S235P |
unknown |
Het |
| Tpbg |
T |
A |
9: 85,726,085 (GRCm39) |
L18* |
probably null |
Het |
| Trabd2b |
A |
T |
4: 114,467,217 (GRCm39) |
Q482L |
possibly damaging |
Het |
| Trim35 |
T |
A |
14: 66,534,895 (GRCm39) |
F126Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,288 (GRCm39) |
V12364D |
unknown |
Het |
| Ubac2 |
A |
G |
14: 122,211,128 (GRCm39) |
Y166C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,519 (GRCm39) |
V1320D |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,410,571 (GRCm39) |
Y2693N |
|
Het |
| Utp20 |
A |
T |
10: 88,608,321 (GRCm39) |
M1572K |
probably benign |
Het |
| Vmn1r7 |
C |
T |
6: 57,001,452 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,167,364 (GRCm39) |
G589D |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,636 (GRCm39) |
M129L |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,973,183 (GRCm39) |
T104S |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,010,275 (GRCm39) |
N390K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,884,110 (GRCm39) |
M933T |
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 |
|
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'- AGGCCTGGGATTAAATGCCC -3'
(R):5'- TGTGTGAGGTCCCAGAGTCAAC -3'
Sequencing Primer
(F):5'- GCTGAGGACCAGAATTTACCTTTCAC -3'
(R):5'- GGTCCCAGAGTCAACCCCAG -3'
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| Posted On |
2019-10-02 |
Incidental Mutation