Mutagenetix > Incidental Mutations

Incidental Mutation 'R4128:Mertk'

315465

Institutional Source

Beutler Lab

Gene Symbol

Mertk

Ensembl Gene

ENSMUSG00000014361

Gene Name

c-mer proto-oncogene tyrosine kinase

Synonyms

Nyk, nmf12, Tyro 12, Eyk, Mer

MMRRC Submission

041635-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128698956-128802894 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 128777438 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 539 (Q539*)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014505]

Predicted Effect

probably null
Transcript: ENSMUST00000014505
AA Change: Q539*

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: Q539*

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: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.5%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	T	3: 95,681,672	R483Q	probably benign	Het
Bbox1	A	G	2: 110,270,180	V224A	probably benign	Het
Cavin2	A	G	1: 51,301,422	*419W	probably null	Het
Cdk19	A	G	10: 40,394,395	I67V	probably benign	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Chn2	G	T	6: 54,272,978	R24M	probably damaging	Het
Csl	T	C	10: 99,758,600	D201G	probably benign	Het
Erap1	T	C	13: 74,666,196	I33T	probably damaging	Het
Ermap	T	C	4: 119,187,111	T163A	possibly damaging	Het
Gnas	A	G	2: 174,300,165	N709S	possibly damaging	Het
Hsd17b14	G	A	7: 45,563,008	V155M	probably damaging	Het
Igf2bp2	C	T	16: 22,078,621	V281I	probably benign	Het
Ighj4	T	C	12: 113,428,556		probably benign	Het
Ireb2	T	A	9: 54,881,432	D63E	probably benign	Het
Jarid2	T	C	13: 44,902,256	S313P	probably damaging	Het
Kcnj11	A	G	7: 46,099,719	F60S	probably damaging	Het
Lyplal1	A	G	1: 186,089,539	C129R	possibly damaging	Het
Myrip	C	A	9: 120,464,698	S753*	probably null	Het
Narf	G	A	11: 121,250,435		probably null	Het
Neb	C	A	2: 52,292,700	L1051F	probably damaging	Het
Nid1	T	C	13: 13,476,372	V498A	probably damaging	Het
Olfr509	T	C	7: 108,646,426	N50S	probably benign	Het
Olfr761	A	G	17: 37,952,790	I78T	probably benign	Het
Pam	A	G	1: 97,834,468	Y691H	probably damaging	Het
Poln	A	G	5: 34,103,951	S561P	probably benign	Het
Rab39	T	A	9: 53,686,504	I154L	probably benign	Het
Rnf187	A	T	11: 58,934,057	S220T	probably benign	Het
Stac	C	A	9: 111,604,058		probably null	Het
Stxbp3	T	C	3: 108,794,831	Q553R	probably benign	Het
Tmem179	A	T	12: 112,511,027	F8I	possibly damaging	Het
Trip11	G	A	12: 101,895,698	Q203*	probably null	Het
Ubash3a	T	C	17: 31,237,275	Y506H	probably damaging	Het
Unc13c	C	A	9: 73,734,537	A1225S	probably damaging	Het
Zranb1	C	A	7: 132,966,552	S313*	probably null	Het

Other mutations in Mertk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Mertk	APN	2	128783967	missense	probably damaging	1.00
IGL01561:Mertk	APN	2	128736636	missense	probably damaging	1.00
IGL01873:Mertk	APN	2	128729275	missense	possibly damaging	0.93
IGL02539:Mertk	APN	2	128801290	missense	probably damaging	1.00
IGL02652:Mertk	APN	2	128801270	missense	probably benign
IGL02962:Mertk	APN	2	128777454	missense	probably damaging	1.00
IGL03237:Mertk	APN	2	128790272	missense	probably damaging	1.00
PIT4378001:Mertk	UTSW	2	128782617	critical splice donor site	probably null
R0118:Mertk	UTSW	2	128759166	missense	probably damaging	0.99
R0281:Mertk	UTSW	2	128782621	splice site	probably benign
R0491:Mertk	UTSW	2	128793107	critical splice donor site	probably null
R0565:Mertk	UTSW	2	128771483	missense	probably benign	0.20
R0628:Mertk	UTSW	2	128738313	missense	probably damaging	1.00
R1260:Mertk	UTSW	2	128762152	missense	probably benign	0.03
R1406:Mertk	UTSW	2	128771486	missense	probably benign	0.00
R1406:Mertk	UTSW	2	128771486	missense	probably benign	0.00
R1423:Mertk	UTSW	2	128778963	missense	probably damaging	1.00
R1523:Mertk	UTSW	2	128790328	critical splice donor site	probably null
R1539:Mertk	UTSW	2	128782526	missense	probably benign	0.05
R1680:Mertk	UTSW	2	128801636	missense	probably benign	0.03
R1770:Mertk	UTSW	2	128750174	missense	probably benign	0.10
R1832:Mertk	UTSW	2	128762212	missense	probably benign	0.10
R1870:Mertk	UTSW	2	128801196	missense	probably benign	0.01
R1959:Mertk	UTSW	2	128759090	missense	probably damaging	0.98
R2078:Mertk	UTSW	2	128794458	missense	probably damaging	1.00
R2125:Mertk	UTSW	2	128762138	missense	probably benign
R2178:Mertk	UTSW	2	128793064	missense	probably damaging	1.00
R2220:Mertk	UTSW	2	128801472	missense	probably benign	0.18
R4664:Mertk	UTSW	2	128801212	missense	probably benign	0.24
R4740:Mertk	UTSW	2	128751994	missense	probably damaging	1.00
R4822:Mertk	UTSW	2	128801305	missense	probably benign	0.00
R4839:Mertk	UTSW	2	128782576	missense	probably damaging	0.97
R4874:Mertk	UTSW	2	128750159	missense	probably damaging	1.00
R4899:Mertk	UTSW	2	128783925	missense	probably damaging	1.00
R5010:Mertk	UTSW	2	128784000	missense	probably benign	0.03
R5128:Mertk	UTSW	2	128738247	missense	probably damaging	0.97
R5251:Mertk	UTSW	2	128729455	missense	probably damaging	1.00
R5276:Mertk	UTSW	2	128801314	missense	possibly damaging	0.87
R5397:Mertk	UTSW	2	128771464	missense	possibly damaging	0.86
R5575:Mertk	UTSW	2	128736565	missense	probably damaging	1.00
R5605:Mertk	UTSW	2	128738307	missense	probably benign	0.43
R5705:Mertk	UTSW	2	128771401	missense	probably benign	0.00
R5987:Mertk	UTSW	2	128771374	missense	probably benign	0.01
R6127:Mertk	UTSW	2	128738291	missense	probably damaging	0.99
R6556:Mertk	UTSW	2	128776421	missense	probably benign	0.23
R6671:Mertk	UTSW	2	128752023	critical splice donor site	probably null
R6674:Mertk	UTSW	2	128729357	missense	probably benign
R6841:Mertk	UTSW	2	128759230	splice site	probably null
R7153:Mertk	UTSW	2	128736649	missense	probably damaging	0.99
R7192:Mertk	UTSW	2	128793108	splice site	probably null
R7225:Mertk	UTSW	2	128801562	missense	possibly damaging	0.94
R7344:Mertk	UTSW	2	128771497	missense	probably benign
R7414:Mertk	UTSW	2	128729393	missense	possibly damaging	0.95
R7883:Mertk	UTSW	2	128776345	missense	probably benign	0.01
R8000:Mertk	UTSW	2	128771498	missense	probably benign
X0067:Mertk	UTSW	2	128729567	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTATACCATTACTCCACCCA -3'
(R):5'- CAAAACCCATGCCTATGTGTG -3'

Sequencing Primer
(F):5'- ACCAAGCTATGTCCCCAGCAG -3'
(R):5'- CAAAACCCATGCCTATGTGTGTGTAC -3'

Posted On

2015-05-14