Incidental Mutation 'R5010:Mertk'
| ID |
390415 |
| 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 |
042601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R5010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128625920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 685
(T685K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014505
AA Change: T685K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: T685K
| 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
|
| Meta Mutation Damage Score |
0.1655 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,630 (GRCm39) |
A86V |
possibly damaging |
Het |
| 9430097D07Rik |
A |
G |
2: 32,464,440 (GRCm39) |
|
probably benign |
Het |
| Actr5 |
T |
A |
2: 158,477,283 (GRCm39) |
D411E |
probably benign |
Het |
| Ang5 |
A |
G |
14: 44,200,302 (GRCm39) |
D122G |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,162,704 (GRCm39) |
|
probably null |
Het |
| Cracd |
G |
C |
5: 76,805,681 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ddx11 |
G |
A |
17: 66,454,717 (GRCm39) |
V642M |
possibly damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,688,043 (GRCm39) |
V100I |
probably benign |
Het |
| Echdc2 |
T |
C |
4: 108,029,328 (GRCm39) |
V111A |
probably benign |
Het |
| Egr1 |
A |
G |
18: 34,996,711 (GRCm39) |
T498A |
probably benign |
Het |
| Exosc3 |
T |
C |
4: 45,317,702 (GRCm39) |
K200R |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,644 (GRCm39) |
D229G |
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,955,808 (GRCm39) |
I430F |
probably damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,232,492 (GRCm39) |
N31S |
probably benign |
Het |
| Gja8 |
T |
C |
3: 96,827,165 (GRCm39) |
T166A |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,485,116 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21915 |
T |
A |
9: 40,581,944 (GRCm39) |
H12Q |
probably benign |
Het |
| Hgsnat |
G |
A |
8: 26,437,988 (GRCm39) |
R527* |
probably null |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Jchain |
T |
C |
5: 88,670,364 (GRCm39) |
H85R |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,383,186 (GRCm39) |
C171R |
probably benign |
Het |
| Kcnk3 |
C |
A |
5: 30,780,149 (GRCm39) |
R400S |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,053,040 (GRCm39) |
I375T |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,033,166 (GRCm39) |
N326S |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,731,615 (GRCm39) |
V97A |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,133,310 (GRCm39) |
V401M |
probably damaging |
Het |
| Nme5 |
A |
C |
18: 34,711,738 (GRCm39) |
M1R |
probably null |
Het |
| Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,366,126 (GRCm39) |
D809E |
possibly damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,793 (GRCm39) |
I43T |
possibly damaging |
Het |
| Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
| Prss23 |
T |
A |
7: 89,159,422 (GRCm39) |
M216L |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,279 (GRCm39) |
V171D |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,618,176 (GRCm39) |
N879D |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,600,522 (GRCm39) |
N879S |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,415,926 (GRCm39) |
S411P |
probably damaging |
Het |
| Rxfp2 |
T |
A |
5: 149,990,825 (GRCm39) |
W519R |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,832,175 (GRCm39) |
Q185L |
probably benign |
Het |
| Serpinb11 |
A |
G |
1: 107,307,379 (GRCm39) |
N270S |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,427 (GRCm39) |
M367K |
probably benign |
Het |
| Skint10 |
T |
G |
4: 112,584,869 (GRCm39) |
I213L |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,403,734 (GRCm39) |
T1163A |
unknown |
Het |
| Slamf9 |
A |
T |
1: 172,303,780 (GRCm39) |
I42L |
possibly damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,330 (GRCm39) |
|
probably benign |
Het |
| Smad6 |
T |
A |
9: 63,861,182 (GRCm39) |
Q371L |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,555,469 (GRCm39) |
V26E |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,816,943 (GRCm39) |
I363T |
possibly damaging |
Het |
| Taf4b |
A |
G |
18: 14,955,229 (GRCm39) |
N594S |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,670,918 (GRCm39) |
S172P |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,438 (GRCm39) |
Y156* |
probably null |
Het |
| Tbc1d20 |
G |
A |
2: 152,135,856 (GRCm39) |
|
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,284 (GRCm39) |
D272E |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,730,855 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,823,661 (GRCm39) |
F1362I |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,543,220 (GRCm39) |
S154P |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,681,410 (GRCm39) |
R844G |
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 |
|
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'- GCTTCAATTTGGCCAGCAG -3'
(R):5'- AAGATTATTGGAGCAGCTGGC -3'
Sequencing Primer
(F):5'- AGCAGCCTCCATATGTATTCATATC -3'
(R):5'- TTCCTCCCACCATGAGCAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation