Incidental Mutation 'R4899:Mertk'
| ID |
375985 |
| 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 |
042503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R4899 (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 A
at 128625845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 660
(P660Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014505
AA Change: P660Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: P660Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157160
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
G |
3: 40,860,304 (GRCm39) |
|
probably null |
Het |
| Adra2c |
A |
T |
5: 35,437,705 (GRCm39) |
Y159F |
probably damaging |
Het |
| Alkal2 |
T |
A |
12: 30,934,972 (GRCm39) |
S64T |
probably benign |
Het |
| Apbb1ip |
T |
C |
2: 22,713,361 (GRCm39) |
V72A |
unknown |
Het |
| Atp13a5 |
A |
G |
16: 29,197,318 (GRCm39) |
L13P |
probably damaging |
Het |
| Azin2 |
G |
A |
4: 128,828,446 (GRCm39) |
P254S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,546,444 (GRCm39) |
R481G |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,157 (GRCm39) |
W288* |
probably null |
Het |
| Cass4 |
A |
G |
2: 172,269,789 (GRCm39) |
T626A |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,497,110 (GRCm39) |
D683E |
probably damaging |
Het |
| Cfap300 |
A |
T |
9: 8,022,494 (GRCm39) |
S243T |
possibly damaging |
Het |
| Chat |
G |
T |
14: 32,170,934 (GRCm39) |
S188R |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,001,087 (GRCm39) |
Y162C |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,443,722 (GRCm39) |
Y676F |
probably damaging |
Het |
| Clec2h |
A |
G |
6: 128,652,787 (GRCm39) |
N185D |
probably benign |
Het |
| Cnbd2 |
G |
T |
2: 156,181,141 (GRCm39) |
V192F |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,730,149 (GRCm39) |
G1112V |
probably damaging |
Het |
| Csta2 |
A |
T |
16: 36,077,731 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,914,481 (GRCm39) |
F483S |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,485,018 (GRCm39) |
E1103G |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,131,921 (GRCm39) |
Q1629* |
probably null |
Het |
| Enpp6 |
A |
G |
8: 47,440,118 (GRCm39) |
Y38C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,028,272 (GRCm39) |
L1271Q |
probably damaging |
Het |
| Fam47e |
G |
A |
5: 92,722,528 (GRCm39) |
V75I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,881,095 (GRCm39) |
D3259G |
probably damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,159,921 (GRCm39) |
D211G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,842 (GRCm39) |
N990D |
probably benign |
Het |
| Frat1 |
T |
G |
19: 41,818,761 (GRCm39) |
L52R |
probably damaging |
Het |
| Ftmt |
C |
G |
18: 52,464,658 (GRCm39) |
|
probably benign |
Het |
| H2-M1 |
C |
T |
17: 36,982,112 (GRCm39) |
G163D |
probably benign |
Het |
| Hapln1 |
A |
G |
13: 89,749,769 (GRCm39) |
K105E |
possibly damaging |
Het |
| Igkv17-127 |
G |
T |
6: 67,838,381 (GRCm39) |
A31S |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,637,695 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,472 (GRCm39) |
I213T |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,063,442 (GRCm39) |
|
probably null |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,902,587 (GRCm39) |
Y241H |
probably damaging |
Het |
| Mtarc2 |
A |
T |
1: 184,577,821 (GRCm39) |
I65N |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,888,438 (GRCm39) |
Y4H |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,456,551 (GRCm39) |
|
probably null |
Het |
| Nuak2 |
A |
T |
1: 132,252,724 (GRCm39) |
K93* |
probably null |
Het |
| Oat |
A |
T |
7: 132,165,951 (GRCm39) |
D211E |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,810 (GRCm39) |
Q91R |
probably benign |
Het |
| Or2aj6 |
G |
A |
16: 19,442,950 (GRCm39) |
A300V |
probably benign |
Het |
| Or4c109 |
A |
C |
2: 88,818,454 (GRCm39) |
L31V |
probably null |
Het |
| Or51b17 |
A |
G |
7: 103,542,672 (GRCm39) |
I90T |
possibly damaging |
Het |
| Or7a39 |
A |
T |
10: 78,715,041 (GRCm39) |
S12C |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,616,874 (GRCm39) |
K1789N |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,211,862 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,803,951 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,769,101 (GRCm39) |
S454P |
probably damaging |
Het |
| Polr2h |
G |
A |
16: 20,539,303 (GRCm39) |
V89M |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,422,780 (GRCm39) |
G17S |
possibly damaging |
Het |
| Pramel55 |
T |
C |
5: 95,949,586 (GRCm39) |
V111A |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,356 (GRCm39) |
V602A |
probably damaging |
Het |
| Rnf123 |
C |
T |
9: 107,940,879 (GRCm39) |
R654H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Samsn1 |
A |
G |
16: 75,675,991 (GRCm39) |
S135P |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,890,980 (GRCm39) |
N147S |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,062,640 (GRCm39) |
Y872C |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,138,933 (GRCm39) |
T510A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,939,144 (GRCm39) |
H978Q |
probably damaging |
Het |
| Sox7 |
G |
A |
14: 64,185,927 (GRCm39) |
R321H |
probably damaging |
Het |
| Spred3 |
T |
C |
7: 28,861,258 (GRCm39) |
D307G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,900,875 (GRCm39) |
D11E |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Top2b |
A |
T |
14: 16,387,313 (GRCm38) |
I134F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,020,563 (GRCm39) |
R206* |
probably null |
Het |
| Ttc3 |
A |
T |
16: 94,230,314 (GRCm39) |
N837I |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,549 (GRCm39) |
T72A |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,151,324 (GRCm39) |
S97P |
probably damaging |
Het |
| Zfp2 |
T |
A |
11: 50,790,841 (GRCm39) |
I401F |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,190 (GRCm39) |
T540A |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,166,231 (GRCm39) |
V834I |
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 |
|
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'- TGTTACATATCCTAGACTCCACTGTG -3'
(R):5'- CACCTGAGTGCACAGTGAAC -3'
Sequencing Primer
(F):5'- ACTGTGAGAGTCCCAAGCCTTTG -3'
(R):5'- CTGAGTGCACAGTGAACTCTGAAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation