Incidental Mutation 'R5605:Mertk'
| ID |
439229 |
| 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 |
043270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R5605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128580227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 227
(V227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014505
AA Change: V227A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: V227A
| 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 |
|
| Meta Mutation Damage Score |
0.1197 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
| Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
| Catsper2 |
G |
A |
2: 121,227,533 (GRCm39) |
R546C |
possibly damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,161 (GRCm39) |
F303L |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
| Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
| Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
| Map3k12 |
G |
T |
15: 102,412,300 (GRCm39) |
D280E |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
| Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
| Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
| Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
| Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
| Tpm1 |
T |
C |
9: 66,956,317 (GRCm39) |
E33G |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,635,402 (GRCm39) |
T633S |
possibly damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
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 |
|
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 |
|
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'- GTGTCCTAGAAAGCTGGCTG -3'
(R):5'- GTTGGGGTATAGCAATCGGC -3'
Sequencing Primer
(F):5'- GTGACAATTGGCTATGTCAGACC -3'
(R):5'- GCAATCGGCACCAAAGTTTTGTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation