Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01561:Mertk'

90844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mertk

Ensembl Gene

ENSMUSG00000014361

Gene Name

MER proto-oncogene tyrosine kinase

Synonyms

nmf12, Tyro 12, Nyk, Eyk, Mer

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL01561

Quality Score

Status

Chromosome

Chromosomal Location

128540876-128644814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128578556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

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

AlphaFold

Q60805

Predicted Effect

probably damaging
Transcript: ENSMUST00000014505
AA Change: S181P

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

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: S181P

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	G	A	11: 5,821,349 (GRCm39)	D583N	probably damaging	Het
Aoah	G	T	13: 21,189,264 (GRCm39)	D496Y	probably damaging	Het
Aoah	T	C	13: 21,089,905 (GRCm39)		probably benign	Het
Cdh10	G	T	15: 19,000,012 (GRCm39)	A486S	possibly damaging	Het
Cers2	A	T	3: 95,229,472 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 123,000,975 (GRCm39)	C229*	probably null	Het
Col15a1	T	C	4: 47,312,118 (GRCm39)	V1311A	possibly damaging	Het
Fpr-rs3	C	T	17: 20,844,859 (GRCm39)	G94D	probably damaging	Het
Fsd1	T	A	17: 56,302,363 (GRCm39)	M269K	probably benign	Het
Golga2	A	G	2: 32,186,689 (GRCm39)	M73V	probably benign	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Heg1	A	G	16: 33,587,038 (GRCm39)	N1267S	probably benign	Het
Htra4	A	C	8: 25,523,587 (GRCm39)	I326S	probably damaging	Het
Klhl33	T	C	14: 51,128,888 (GRCm39)	I780M	probably benign	Het
Mpdz	T	C	4: 81,202,851 (GRCm39)	H1882R	probably damaging	Het
Muc13	A	G	16: 33,626,411 (GRCm39)	K317E	possibly damaging	Het
Nek3	A	G	8: 22,619,472 (GRCm39)	F440S	probably damaging	Het
Nrxn2	G	A	19: 6,540,172 (GRCm39)	R831H	probably damaging	Het
Or10w1	T	C	19: 13,632,269 (GRCm39)	F159L	probably benign	Het
Or1q1	T	A	2: 36,886,955 (GRCm39)	F44L	probably benign	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Palmd	A	T	3: 116,717,742 (GRCm39)	S252T	probably damaging	Het
Piezo2	C	A	18: 63,257,685 (GRCm39)	M344I	probably benign	Het
Pygo1	T	A	9: 72,852,570 (GRCm39)	N252K	probably damaging	Het
Rhobtb1	A	G	10: 69,106,221 (GRCm39)	Q262R	probably benign	Het
Xpo1	T	C	11: 23,232,706 (GRCm39)	Y409H	possibly damaging	Het
Zan	T	A	5: 137,462,128 (GRCm39)	E1017V	unknown	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
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
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

Posted On

2013-12-09