Mutagenetix > Incidental Mutation

Incidental Mutation 'R9135:Mertk'

693892

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R9135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128698956-128802894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128762115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 390 (N390D)

Ref Sequence

ENSEMBL: ENSMUSP00000014505 (fasta)

Gene Model

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

AlphaFold

Q60805

Predicted Effect

probably benign
Transcript: ENSMUST00000014505
AA Change: N390D

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: N390D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,379,404	L513Q	probably damaging	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Abi3bp	A	G	16: 56,596,810	D419G	probably benign	Het
Acoxl	A	T	2: 127,854,771		probably benign	Het
Acvr1	T	C	2: 58,462,971	T326A	possibly damaging	Het
Adgra2	T	C	8: 27,120,951	L976P	probably damaging	Het
Adora2b	A	G	11: 62,265,060		probably null	Het
Ak1	A	T	2: 32,631,170	Q117L	probably damaging	Het
Akr1c14	T	A	13: 4,078,029	D143E	probably damaging	Het
Ap4e1	A	T	2: 127,019,322	H127L	probably damaging	Het
Asxl3	T	A	18: 22,516,613	I553N	probably damaging	Het
Asxl3	T	A	18: 22,524,424	N1830K	possibly damaging	Het
Atp11a	G	A	8: 12,813,144	A108T	probably damaging	Het
Bag6	A	G	17: 35,143,461	T582A	unknown	Het
Bbs9	T	C	9: 22,578,709	S259P	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Blvrb	T	C	7: 27,465,785	S177P	probably damaging	Het
C1s2	T	A	6: 124,625,683	D523V	probably benign	Het
Cacna2d1	C	T	5: 16,353,852	T736I	probably damaging	Het
Card9	T	C	2: 26,352,385	N513S	probably benign	Het
Casp2	A	G	6: 42,268,948	T180A	probably benign	Het
Cenpf	A	T	1: 189,672,549	L361Q	probably damaging	Het
Cnbd2	T	C	2: 156,375,568	I659T	probably damaging	Het
Cped1	A	T	6: 21,987,013	D68V	probably damaging	Het
Cxcr1	T	C	1: 74,191,940	I308V	probably benign	Het
Dad1	A	G	14: 54,253,706	L46P	probably damaging	Het
Defb23	G	A	2: 152,459,502	A50V	probably benign	Het
Dhx33	C	T	11: 70,987,166	A684T	probably damaging	Het
Epb41l4a	T	A	18: 33,832,676	N366I	probably benign	Het
Erich3	A	G	3: 154,762,275	E788G		Het
Fam241b	T	C	10: 62,109,113	N35S	probably benign	Het
Fbxo24	T	A	5: 137,624,264	Q80L	probably benign	Het
Foxk1	T	G	5: 142,448,742	F254V	probably benign	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm12886	T	C	4: 121,417,546	I46V	probably benign	Het
Gm20834	G	T	Y: 10,323,354	H27Q	probably damaging	Het
Gm2888	A	G	14: 3,032,106	N138S	probably damaging	Het
Gm5773	T	C	3: 93,773,872	C284R	possibly damaging	Het
Gprin3	A	T	6: 59,353,288	M678K	probably benign	Het
Grm7	T	C	6: 111,495,768	V856A	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Immt	C	T	6: 71,874,419	T588I	probably damaging	Het
Ints1	G	C	5: 139,751,946	N2145K	possibly damaging	Het
Jade2	T	C	11: 51,825,124	D418G	probably benign	Het
Kdf1	T	C	4: 133,528,829	Y286H	probably damaging	Het
Kif18a	A	G	2: 109,341,161	Y861C	possibly damaging	Het
Lama2	T	A	10: 27,422,519	I194F	probably damaging	Het
Lhx8	A	G	3: 154,328,426	S33P	probably benign	Het
Lmo7	T	C	14: 101,880,861	I174T	probably damaging	Het
Lrfn2	A	T	17: 49,069,948	D19V	possibly damaging	Het
Lrrk1	A	T	7: 66,278,609	I1257N	probably damaging	Het
Malrd1	T	A	2: 15,797,705	H1076Q	unknown	Het
Map3k14	A	C	11: 103,237,538	M419R	probably damaging	Het
Mcm10	G	A	2: 5,006,561	R200C	probably benign	Het
Mitf	T	A	6: 98,013,719	I361N	probably damaging	Het
Mrgprb1	T	A	7: 48,447,298	I289F	possibly damaging	Het
Muc5ac	A	T	7: 141,798,481	D659V	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nphp3	T	G	9: 104,032,015	L808R	probably damaging	Het
Olfr1434	T	A	19: 12,283,444	L132Q	probably damaging	Het
Olfr1467	T	A	19: 13,365,391	S254R	possibly damaging	Het
Olfr20	T	C	11: 73,354,490	S246P	probably damaging	Het
Olfr296-ps1	G	A	7: 86,561,948	C72Y	unknown	Het
Pagr1a	T	C	7: 127,016,782	E47G	probably benign	Het
Papss2	G	T	19: 32,641,364	R274L	probably damaging	Het
Pcdhga10	C	A	18: 37,747,907	F240L	probably damaging	Het
Pcsk5	T	G	19: 17,586,108	E555A		Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Pgrmc2	T	A	3: 41,068,664	D206V	probably damaging	Het
Pkd1	T	C	17: 24,572,002	V1057A		Het
Plekha5	T	C	6: 140,534,513	I113T	probably damaging	Het
Prss32	C	T	17: 23,859,225	T295I	possibly damaging	Het
Ptprk	G	T	10: 28,580,417	V1072F	probably damaging	Het
Rasd2	T	A	8: 75,218,546	M1K	probably null	Het
Rhag	T	A	17: 40,828,411	M79K	probably damaging	Het
Rnf19a	C	A	15: 36,253,164		probably null	Het
Rnf213	G	T	11: 119,408,747	G101C		Het
Sap130	T	A	18: 31,647,063	D45E	probably benign	Het
Scel	T	A	14: 103,602,190	F510I	probably benign	Het
Sertad2	A	T	11: 20,648,425	E207V	probably benign	Het
Shoc2	T	A	19: 53,987,879	S67T	probably benign	Het
Slc22a3	T	C	17: 12,426,732	I441V	possibly damaging	Het
Slfn5	A	G	11: 82,960,677	D600G	probably benign	Het
Smim7	G	A	8: 72,570,913	T10M	probably damaging	Het
Sntb2	A	T	8: 106,936,199	Q133L	possibly damaging	Het
Steap3	A	C	1: 120,234,318	M408R	probably benign	Het
Supt4a	T	C	11: 87,742,798	I60T	probably benign	Het
Swt1	A	C	1: 151,368,488	C899G	possibly damaging	Het
Taok3	C	T	5: 117,241,180	L427F	possibly damaging	Het
Taok3	A	G	5: 117,206,679	E157G	probably damaging	Het
Taok3	T	C	5: 117,241,103	V401A	probably benign	Het
Tcf25	A	G	8: 123,381,443	E79G	probably benign	Het
Tigit	G	A	16: 43,659,513	L140F	possibly damaging	Het
Tmem143	G	T	7: 45,897,378		probably benign	Het
Tmem151b	C	T	17: 45,545,429	V362M	possibly damaging	Het
Tmem230	A	G	2: 132,244,069	F58L	probably benign	Het
Trim25	T	C	11: 89,009,162	M245T	probably benign	Het
Trim36	A	C	18: 46,169,343	V546G	probably benign	Het
Triml1	T	C	8: 43,130,587	N326D	probably damaging	Het
Trp53bp2	T	C	1: 182,458,763	V1056A	probably damaging	Het
Trpa1	C	A	1: 14,882,211	M865I	probably damaging	Het
Ttbk1	A	T	17: 46,479,206	Y104*	probably null	Het
Tubg1	T	A	11: 101,123,431	H139Q	probably damaging	Het
Ufsp2	A	G	8: 45,994,013		probably null	Het
Uhrf1bp1	T	A	17: 27,885,928	L532*	probably null	Het
Usp47	A	T	7: 112,053,224	N36I	probably benign	Het
Vmn1r32	G	A	6: 66,553,136	R219*	probably null	Het
Vmn2r59	G	A	7: 42,043,701	P492S	probably benign	Het
Vmn2r59	G	C	7: 42,043,703	A491G		Het
Wdr63	T	C	3: 146,066,834	T486A	probably benign	Het
Wdr76	T	C	2: 121,534,111	Y299H	probably damaging	Het
Wnt5a	C	T	14: 28,518,352	A153V	probably benign	Het
Zfp202	T	C	9: 40,208,941	V226A	possibly damaging	Het
Zfp219	C	T	14: 52,007,141	R527H	probably damaging	Het
Zfp408	A	T	2: 91,645,183	L542H	probably damaging	Het
Zfyve9	A	T	4: 108,682,189	C271*	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
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
R8953:Mertk	UTSW	2	128778796	intron	probably benign
R9153:Mertk	UTSW	2	128782567	missense	probably damaging	1.00
R9176:Mertk	UTSW	2	128778972	missense	possibly damaging	0.62
R9443:Mertk	UTSW	2	128762109	missense	probably benign	0.00
R9574:Mertk	UTSW	2	128751960	missense	probably benign	0.03
R9582:Mertk	UTSW	2	128782607	missense	possibly damaging	0.55
R9616:Mertk	UTSW	2	128801335	missense	probably benign	0.01
X0067:Mertk	UTSW	2	128729567	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCTAAGAGGATAGGAGTTTACC -3'
(R):5'- GCCTTGCCTTGCTCAATGATAAC -3'

Sequencing Primer
(F):5'- AGGAGTTTACCATTAATCTGGGTC -3'
(R):5'- GCCTTGCTCAATGATAACAAGTGAC -3'

Posted On

2022-01-20