Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Mertk'

210615

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

039892-MU

Accession Numbers

Essential gene?

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

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128540876-128644814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128643116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 838 (D838E)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

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

AlphaFold

Q60805

Predicted Effect

probably benign
Transcript: ENSMUST00000014505
AA Change: D838E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: D838E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bcan	T	C	3: 87,902,908 (GRCm39)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Dnase2a	T	C	8: 85,635,392 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,483,021 (GRCm39)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	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
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

Predicted Primers

PCR Primer
(F):5'- AGACCATTTCTTCCCACCCA -3'
(R):5'- TGAACTTCTGCCGTGACCAC -3'

Sequencing Primer
(F):5'- TCCACCAAAACTCATTCATTTCC -3'
(R):5'- CAATGATGGAGTCAGGGTCAATGTTC -3'

Posted On

2014-06-30