Mutagenetix > Incidental Mutations

Incidental Mutation 'R5366:Tyro3'

429324

Institutional Source

Beutler Lab

Gene Symbol

Tyro3

Ensembl Gene

ENSMUSG00000027298

Gene Name

TYRO3 protein tyrosine kinase 3

Synonyms

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

MMRRC Submission

042944-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119797733-119818104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119804831 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 201 (R201Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106410 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028763
AA Change: R205Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: R205Q

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: R201Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: R201Q

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: ENSMUST00000130456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148343

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,242,288	M657K	possibly damaging	Het
4932431P20Rik	A	C	7: 29,533,539		noncoding transcript	Het
Abcb5	T	C	12: 118,867,930	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,402,817	C158Y	probably benign	Het
Ahnak	T	A	19: 9,016,735	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,592,841	C322*	probably null	Het
Ano1	T	A	7: 144,654,209	T113S	possibly damaging	Het
Apeh	A	T	9: 108,091,806	S321T	probably benign	Het
Atg4d	T	A	9: 21,268,652	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,274,318	D489G	probably damaging	Het
Cd47	T	C	16: 49,896,373	F256L	probably damaging	Het
Cd84	A	T	1: 171,873,305	D211V	probably damaging	Het
Cfap46	A	G	7: 139,650,886	L942P	probably damaging	Het
Cfh	A	C	1: 140,136,235	C434W	probably damaging	Het
Chst2	T	C	9: 95,405,465	D276G	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Degs1	C	A	1: 182,279,362	D111Y	probably benign	Het
Dhps	T	A	8: 85,074,784	D313E	probably damaging	Het
Dock9	A	G	14: 121,578,203	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,904,734	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,779,533	T189N	probably benign	Het
Ep300	T	A	15: 81,616,100	L57M	probably benign	Het
Exoc6b	T	A	6: 84,890,531	I300L	probably benign	Het
Fam69c	T	A	18: 84,730,595	L106Q	probably damaging	Het
Fzd8	T	C	18: 9,213,880	S321P	probably damaging	Het
Gm9920	T	A	15: 55,112,309		probably benign	Het
Gucy2c	A	G	6: 136,720,741	I668T	probably damaging	Het
Irgc1	C	T	7: 24,433,426		probably benign	Het
Jsrp1	G	T	10: 80,810,196	S143*	probably null	Het
Kctd4	T	C	14: 75,962,819	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,283,150	I351N	probably damaging	Het
Klra17	C	T	6: 129,874,895	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,390,729	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,321,914	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,391,455	S94T	probably benign	Het
Muc5ac	A	G	7: 141,807,550	T1533A	probably benign	Het
Myh10	A	T	11: 68,760,692	D287V	probably damaging	Het
Obscn	T	C	11: 59,080,260	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,668,412	T356S	probably benign	Het
Olfr1313	T	C	2: 112,072,478	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,341,828	N108I	probably damaging	Het
Pbx4	A	T	8: 69,870,170	T309S	probably benign	Het
Phyhip	C	A	14: 70,466,855	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,395,754	E254G	probably damaging	Het
Pxdn	C	A	12: 30,002,900	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,291,683	T111A	probably benign	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Sgsm1	C	A	5: 113,251,039	E722D	possibly damaging	Het
Soat1	A	T	1: 156,444,611	D101E	probably benign	Het
Spag5	T	A	11: 78,320,326		probably null	Het
Spata31	A	T	13: 64,920,459	E140D	probably damaging	Het
Srrm2	T	A	17: 23,818,704	S1537T	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tbc1d4	G	T	14: 101,607,976	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,500,305		probably benign	Het
Tmem43	T	C	6: 91,478,258	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,282,134	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,315,190		noncoding transcript	Het
Trim44	A	G	2: 102,400,131	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,282,345	D22G	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubxn2a	T	A	12: 4,880,741	K206N	probably benign	Het
Usp17lb	G	T	7: 104,840,408	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,245,114	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,055,819	M131K	possibly damaging	Het
Zfp827	A	T	8: 79,185,704	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,212,790	M821T	probably benign	Het

Other mutations in Tyro3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Tyro3	APN	2	119813200	missense	probably damaging	1.00
IGL02221:Tyro3	APN	2	119812590	missense	probably benign	0.00
IGL02389:Tyro3	APN	2	119804864	splice site	probably benign
IGL02442:Tyro3	APN	2	119808868	missense	probably benign	0.16
PIT4382001:Tyro3	UTSW	2	119802364	missense	probably damaging	1.00
R0078:Tyro3	UTSW	2	119817006	missense	probably damaging	1.00
R0087:Tyro3	UTSW	2	119801701	missense	probably benign	0.38
R0503:Tyro3	UTSW	2	119803230	splice site	probably benign
R0551:Tyro3	UTSW	2	119816904	missense	probably damaging	1.00
R1858:Tyro3	UTSW	2	119801695	missense	possibly damaging	0.95
R1902:Tyro3	UTSW	2	119801695	missense	possibly damaging	0.73
R1980:Tyro3	UTSW	2	119808817	missense	probably benign
R2294:Tyro3	UTSW	2	119805645	missense	probably damaging	0.99
R3877:Tyro3	UTSW	2	119813293	missense	probably damaging	0.98
R4651:Tyro3	UTSW	2	119816868	missense	probably benign	0.01
R4652:Tyro3	UTSW	2	119816868	missense	probably benign	0.01
R4698:Tyro3	UTSW	2	119803270	missense	probably damaging	1.00
R4757:Tyro3	UTSW	2	119810938	missense	probably damaging	1.00
R4894:Tyro3	UTSW	2	119802298	missense	probably damaging	0.96
R5193:Tyro3	UTSW	2	119810517	missense	probably damaging	1.00
R5693:Tyro3	UTSW	2	119810868	missense	probably damaging	1.00
R6017:Tyro3	UTSW	2	119816666	missense	probably damaging	1.00
R6110:Tyro3	UTSW	2	119812823	missense	probably damaging	1.00
R6160:Tyro3	UTSW	2	119803270	missense	probably damaging	0.98
R6290:Tyro3	UTSW	2	119816840	missense	probably benign
R6293:Tyro3	UTSW	2	119808000	missense	possibly damaging	0.89
R6366:Tyro3	UTSW	2	119816675	missense	probably damaging	0.96
R6712:Tyro3	UTSW	2	119804854	missense	probably null	0.44
R7645:Tyro3	UTSW	2	119816906	missense	probably damaging	1.00
Z1088:Tyro3	UTSW	2	119809467	missense	probably benign	0.31
Z1177:Tyro3	UTSW	2	119809991	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTAGACTGCAAAGTCCTCGCTC -3'
(R):5'- TGCCAATAACTCCTCACCTG -3'

Sequencing Primer
(F):5'- AACCCGATCCTTTGGCTAGAG -3'
(R):5'- TAACTCCTCACCTGCAGATCC -3'

Posted On

2016-09-06