Incidental Mutation 'R2078:Mertk'
| ID |
229258 |
| 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 |
040083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R2078 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128636378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 784
(T784I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014505
AA Change: T784I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: T784I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
A |
1: 75,148,780 (GRCm39) |
G55C |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,802,902 (GRCm39) |
T448A |
possibly damaging |
Het |
| Atxn7 |
A |
G |
14: 14,052,975 (GRCm38) |
N138D |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,077 (GRCm39) |
D869V |
probably benign |
Het |
| Cps1 |
T |
G |
1: 67,196,965 (GRCm39) |
Y339D |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,234,424 (GRCm39) |
I937T |
possibly damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,686 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ebag9 |
A |
G |
15: 44,500,200 (GRCm39) |
N157S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,522 (GRCm39) |
D770G |
probably benign |
Het |
| Ezr |
A |
G |
17: 7,050,041 (GRCm39) |
M1T |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,822 (GRCm39) |
N905S |
probably damaging |
Het |
| Fcrlb |
C |
G |
1: 170,735,650 (GRCm39) |
R208P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,927,466 (GRCm38) |
V1892A |
probably damaging |
Het |
| Gas2 |
G |
A |
7: 51,547,073 (GRCm39) |
V75M |
probably benign |
Het |
| Gda |
T |
A |
19: 21,378,036 (GRCm39) |
D267V |
probably damaging |
Het |
| Gper1 |
A |
T |
5: 139,411,888 (GRCm39) |
I78F |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,795,325 (GRCm39) |
I2368S |
probably damaging |
Het |
| Katna1 |
C |
T |
10: 7,619,333 (GRCm39) |
P114S |
probably benign |
Het |
| Lce3c |
G |
A |
3: 92,852,758 (GRCm39) |
S73N |
unknown |
Het |
| Lrfn3 |
A |
T |
7: 30,059,879 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,103,888 (GRCm39) |
T505K |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,662 (GRCm39) |
I195F |
possibly damaging |
Het |
| Mff |
T |
C |
1: 82,719,642 (GRCm39) |
S207P |
probably damaging |
Het |
| Mtmr6 |
A |
G |
14: 60,529,436 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
C |
15: 77,648,112 (GRCm39) |
K1788R |
probably benign |
Het |
| Narf |
A |
G |
11: 121,136,220 (GRCm39) |
T199A |
probably benign |
Het |
| Neurod6 |
A |
G |
6: 55,655,954 (GRCm39) |
S228P |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,787,689 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
T |
C |
1: 81,169,696 (GRCm39) |
L151P |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,751 (GRCm39) |
V204E |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,118 (GRCm39) |
I86V |
probably damaging |
Het |
| Pafah1b2 |
G |
T |
9: 45,880,127 (GRCm39) |
D183E |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,619,276 (GRCm39) |
E179G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,791 (GRCm39) |
E436G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,163 (GRCm39) |
I1514V |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,609,364 (GRCm39) |
S948P |
probably benign |
Het |
| Rfc5 |
A |
G |
5: 117,518,868 (GRCm39) |
V296A |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,868,839 (GRCm39) |
D626G |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,593,171 (GRCm39) |
D346G |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,160,728 (GRCm39) |
F289I |
possibly damaging |
Het |
| Terf2ip |
A |
G |
8: 112,742,035 (GRCm39) |
N243S |
probably benign |
Het |
| Tmed5 |
A |
T |
5: 108,272,471 (GRCm39) |
V209E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,974,462 (GRCm39) |
S603P |
possibly damaging |
Het |
| Tomm20 |
T |
C |
8: 127,663,822 (GRCm39) |
M121V |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,709,970 (GRCm39) |
V45I |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Vsig8 |
C |
A |
1: 172,390,856 (GRCm39) |
D301E |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,145,597 (GRCm39) |
H91Q |
probably damaging |
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 |
|
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'- ACGGTTAACTATGGGGCTTCAAC -3'
(R):5'- AGCACTGTGTTTCTCAGGTC -3'
Sequencing Primer
(F):5'- AACCCCATGTATTGCTGTGTCAG -3'
(R):5'- CTCAGGTCGTTTCATAGCCAGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation