Mutagenetix > Incidental Mutation

Incidental Mutation 'R6674:Mertk'

527207

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

044794-MU

Accession Numbers

Essential gene?

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

Stock #

R6674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128540876-128644814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128571277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

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

AlphaFold

Q60805

Predicted Effect

probably benign
Transcript: ENSMUST00000014505
AA Change: V77A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: V77A

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	T	C	19: 45,963,437 (GRCm39)	E92G	probably benign	Het
Cluh	A	G	11: 74,557,053 (GRCm39)	H1005R	probably damaging	Het
Coro2b	C	T	9: 62,339,709 (GRCm39)	R13H	probably damaging	Het
Depdc1a	T	A	3: 159,232,344 (GRCm39)	N698K	probably benign	Het
Dusp12	G	A	1: 170,707,317 (GRCm39)	T257I	probably benign	Het
Esf1	T	A	2: 139,962,726 (GRCm39)	K782*	probably null	Het
Extl1	T	C	4: 134,085,438 (GRCm39)	T560A	probably damaging	Het
Gpr179	C	A	11: 97,238,231 (GRCm39)		probably null	Het
Krt90	G	A	15: 101,465,761 (GRCm39)	L287F	probably damaging	Het
Nr4a2	C	T	2: 57,002,436 (GRCm39)	A6T	probably damaging	Het
Pdzd8	G	A	19: 59,289,801 (GRCm39)	P533L	probably damaging	Het
Plxnb1	G	A	9: 108,937,214 (GRCm39)	G1132R	probably benign	Het
Ppfia2	A	G	10: 106,763,633 (GRCm39)	I1209V	probably benign	Het
Slc26a9	A	T	1: 131,692,756 (GRCm39)	Q696L	probably benign	Het
Sphkap	A	T	1: 83,255,555 (GRCm39)	S444R	probably benign	Het
Tmem144	A	G	3: 79,746,490 (GRCm39)	F22L	possibly damaging	Het
Tomm20l	A	G	12: 71,158,307 (GRCm39)	D30G	probably damaging	Het
Trpc2	A	G	7: 101,745,264 (GRCm39)	T827A	probably benign	Het
Unc50	T	C	1: 37,476,539 (GRCm39)	V208A	probably benign	Het
Vmn1r125	T	C	7: 21,006,638 (GRCm39)	S179P	probably damaging	Het
Vmn1r225	A	C	17: 20,723,377 (GRCm39)	I273L	probably benign	Het
Vmn2r117	G	A	17: 23,679,023 (GRCm39)	Q734*	probably null	Het
Vmn2r88	A	G	14: 51,651,795 (GRCm39)	I378V	probably benign	Het
Zfp507	C	T	7: 35,494,159 (GRCm39)	V295I	probably damaging	Het
Zfp981	A	G	4: 146,619,950 (GRCm39)	R35G	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
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
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'- GCTGTGGACTAAGCATCTGAATTG -3'
(R):5'- TTGAATGATGTGCCCCGAGC -3'

Sequencing Primer
(F):5'- GGCTAAAACTCCAATCTTCTGC -3'
(R):5'- GCCCCGAGCAATTCCTTTC -3'

Posted On

2018-07-23