Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02962:Mertk'

365401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mertk

Ensembl Gene

ENSMUSG00000014361

Gene Name

c-mer proto-oncogene tyrosine kinase

Synonyms

Nyk, nmf12, Tyro 12, Eyk, Mer

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

128698956-128802894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128777454 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 544 (Y544C)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000014505
AA Change: Y544C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: Y544C

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,610,593		probably null	Het
9530068E07Rik	T	C	11: 52,403,535	V209A	possibly damaging	Het
Abca3	T	A	17: 24,400,409	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,135,501	Y90H	probably benign	Het
Aff3	T	C	1: 38,535,656	D81G	probably damaging	Het
Amn	G	T	12: 111,274,517	V152L	probably damaging	Het
Arhgap44	A	G	11: 65,067,161		probably benign	Het
Atad5	T	A	11: 80,108,579	V895D	possibly damaging	Het
Card9	T	G	2: 26,358,017		probably null	Het
Ccer1	T	C	10: 97,693,840	S122P	unknown	Het
Ccr2	A	G	9: 124,105,675		probably benign	Het
Dsg1a	T	A	18: 20,340,324	I818N	possibly damaging	Het
Ear10	G	T	14: 43,923,317	L18I	probably damaging	Het
Gm13089	T	A	4: 143,697,340	E293V	probably benign	Het
Miga1	A	T	3: 152,285,341		probably benign	Het
Myo18a	T	C	11: 77,778,235	V307A	probably damaging	Het
Olfr1354	T	A	10: 78,916,939	L33H	probably damaging	Het
Olfr488	A	T	7: 108,255,703	I145N	possibly damaging	Het
Pou2f3	T	C	9: 43,125,089		probably benign	Het
Prickle2	A	C	6: 92,376,422	S744A	probably benign	Het
Prkcb	T	A	7: 122,425,047		probably null	Het
Prkd2	A	G	7: 16,869,832	T813A	probably benign	Het
Prkra	G	A	2: 76,633,547	T257M	probably damaging	Het
Rbm18	C	T	2: 36,122,874	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,190,326	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,270,362	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,948,362	K613I	probably damaging	Het
Serbp1	G	A	6: 67,267,119	G8D	probably damaging	Het
Slc6a2	T	A	8: 92,972,762	Y139*	probably null	Het
Slc7a2	T	A	8: 40,905,584	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,648,553	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,642,371	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,059,862		probably benign	Het
Taar5	C	A	10: 23,970,985	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181	A353S	probably benign	Het
Trav1	A	G	14: 52,428,642	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,431,595	V71A	probably benign	Het
Vmn2r50	T	C	7: 10,050,325	Y74C	probably damaging	Het
Wars	A	T	12: 108,875,780	M147K	probably damaging	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
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
R4128:Mertk	UTSW	2	128777438	nonsense	probably null
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

Posted On

2015-12-18