Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Tyro3'

45144

Institutional Source

Beutler Lab

Gene Symbol

Tyro3

Ensembl Gene

ENSMUSG00000027298

Gene Name

TYRO3 protein tyrosine kinase 3

Synonyms

Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119628221-119648585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119647385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 834 (R834Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028763] [ENSMUST00000110783]

AlphaFold

P55144

Predicted Effect

probably damaging
Transcript: ENSMUST00000028763
AA Change: R838Q

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

SMART Domains

Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: R838Q

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IGc2	45	114	1.29e-15	SMART
IG	135	212	1.3e-2	SMART
FN3	215	297	1.5e-5	SMART
FN3	313	393	1.9e0	SMART
transmembrane domain	419	441	N/A	INTRINSIC
TyrKc	508	776	1.18e-125	SMART
low complexity region	817	832	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110783
AA Change: R834Q

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

SMART Domains

Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: R834Q

Domain	Start	End	E-Value	Type
IGc2	41	110	1.29e-15	SMART
IG	131	208	1.3e-2	SMART
FN3	211	293	1.5e-5	SMART
FN3	309	389	1.9e0	SMART
transmembrane domain	415	437	N/A	INTRINSIC
TyrKc	504	772	1.18e-125	SMART
low complexity region	813	828	N/A	INTRINSIC
low complexity region	861	871	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147761

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	probably benign	Het

Other mutations in Tyro3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Tyro3	APN	2	119,643,681 (GRCm39)	missense	probably damaging	1.00
IGL02221:Tyro3	APN	2	119,643,071 (GRCm39)	missense	probably benign	0.00
IGL02389:Tyro3	APN	2	119,635,345 (GRCm39)	splice site	probably benign
IGL02442:Tyro3	APN	2	119,639,349 (GRCm39)	missense	probably benign	0.16
PIT4382001:Tyro3	UTSW	2	119,632,845 (GRCm39)	missense	probably damaging	1.00
R0078:Tyro3	UTSW	2	119,647,487 (GRCm39)	missense	probably damaging	1.00
R0087:Tyro3	UTSW	2	119,632,182 (GRCm39)	missense	probably benign	0.38
R0503:Tyro3	UTSW	2	119,633,711 (GRCm39)	splice site	probably benign
R1858:Tyro3	UTSW	2	119,632,176 (GRCm39)	missense	possibly damaging	0.95
R1902:Tyro3	UTSW	2	119,632,176 (GRCm39)	missense	possibly damaging	0.73
R1980:Tyro3	UTSW	2	119,639,298 (GRCm39)	missense	probably benign
R2294:Tyro3	UTSW	2	119,636,126 (GRCm39)	missense	probably damaging	0.99
R3877:Tyro3	UTSW	2	119,643,774 (GRCm39)	missense	probably damaging	0.98
R4651:Tyro3	UTSW	2	119,647,349 (GRCm39)	missense	probably benign	0.01
R4652:Tyro3	UTSW	2	119,647,349 (GRCm39)	missense	probably benign	0.01
R4698:Tyro3	UTSW	2	119,633,751 (GRCm39)	missense	probably damaging	1.00
R4757:Tyro3	UTSW	2	119,641,419 (GRCm39)	missense	probably damaging	1.00
R4894:Tyro3	UTSW	2	119,632,779 (GRCm39)	missense	probably damaging	0.96
R5193:Tyro3	UTSW	2	119,640,998 (GRCm39)	missense	probably damaging	1.00
R5366:Tyro3	UTSW	2	119,635,312 (GRCm39)	missense	probably damaging	1.00
R5693:Tyro3	UTSW	2	119,641,349 (GRCm39)	missense	probably damaging	1.00
R6017:Tyro3	UTSW	2	119,647,147 (GRCm39)	missense	probably damaging	1.00
R6110:Tyro3	UTSW	2	119,643,304 (GRCm39)	missense	probably damaging	1.00
R6160:Tyro3	UTSW	2	119,633,751 (GRCm39)	missense	probably damaging	0.98
R6290:Tyro3	UTSW	2	119,647,321 (GRCm39)	missense	probably benign
R6293:Tyro3	UTSW	2	119,638,481 (GRCm39)	missense	possibly damaging	0.89
R6366:Tyro3	UTSW	2	119,647,156 (GRCm39)	missense	probably damaging	0.96
R6712:Tyro3	UTSW	2	119,635,335 (GRCm39)	missense	probably null	0.44
R7645:Tyro3	UTSW	2	119,647,387 (GRCm39)	missense	probably damaging	1.00
R9378:Tyro3	UTSW	2	119,642,648 (GRCm39)	missense	probably damaging	1.00
R9541:Tyro3	UTSW	2	119,642,589 (GRCm39)	missense	possibly damaging	0.47
Z1088:Tyro3	UTSW	2	119,639,948 (GRCm39)	missense	probably benign	0.31
Z1177:Tyro3	UTSW	2	119,640,472 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTCTGCGAATGGAACTGGAGAAC -3'
(R):5'- CACTAAAGTAGGAGCAGCTCAGCC -3'

Sequencing Primer
(F):5'- TGGAGAACATTCTGGGCCAC -3'
(R):5'- AATTTGGTCCGTCCAGGC -3'

Posted On

2013-06-11