Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Tyro3'

377470

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119797733-119818104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119802298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 96 (S96P)

Ref Sequence

ENSEMBL: ENSMUSP00000106410 (fasta)

Gene Model

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

AlphaFold

P55144

Predicted Effect

probably benign
Transcript: ENSMUST00000028763
AA Change: S100P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: S100P

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: S96P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: S96P

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: ENSMUST00000148343

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,299,084 (GRCm38)	Y176*	probably null	Het
Akap13	T	A	7: 75,725,320 (GRCm38)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,635,332 (GRCm38)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,758,116 (GRCm38)		probably null	Het
Cacna1e	G	T	1: 154,488,805 (GRCm38)	S341*	probably null	Het
Camk1d	G	A	2: 5,354,728 (GRCm38)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,337,851 (GRCm38)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm38)	I1276N	probably damaging	Het
Clca1	A	G	3: 145,013,901 (GRCm38)	V436A	probably damaging	Het
Ctcfl	G	A	2: 173,117,403 (GRCm38)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,730,527 (GRCm38)		probably benign	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm38)	S495R	probably benign	Het
Espl1	A	G	15: 102,322,323 (GRCm38)		probably null	Het
Eya4	T	C	10: 23,109,854 (GRCm38)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,588,549 (GRCm38)	T554R	probably benign	Het
Fbxo18	A	T	2: 11,762,960 (GRCm38)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,618,902 (GRCm38)	C1023R	probably damaging	Het
Gm14139	T	A	2: 150,191,979 (GRCm38)	C104*	probably null	Het
Helz2	G	C	2: 181,236,147 (GRCm38)	P953A	probably benign	Het
Ifi204	G	T	1: 173,760,242 (GRCm38)	S117Y	probably damaging	Het
Igfn1	G	A	1: 135,954,782 (GRCm38)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,498,067 (GRCm38)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,903,441 (GRCm38)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,904,490 (GRCm38)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 122,940,967 (GRCm38)	E308*	probably null	Het
Klhl20	A	T	1: 161,109,532 (GRCm38)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,053,188 (GRCm38)	F64L	probably benign	Het
Ldlrad3	C	T	2: 102,057,948 (GRCm38)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,912,531 (GRCm38)	T161A	probably benign	Het
Lrriq1	A	T	10: 103,161,752 (GRCm38)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,325,402 (GRCm38)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,541,118 (GRCm38)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm38)	S651A	probably damaging	Het
Olfr1214	T	C	2: 88,987,439 (GRCm38)	I254M	possibly damaging	Het
Olfr1337	A	T	4: 118,782,286 (GRCm38)	C100S	probably damaging	Het
Olfr1361	T	C	13: 21,659,182 (GRCm38)	N47S	probably damaging	Het
Rag2	T	C	2: 101,629,677 (GRCm38)	S111P	probably damaging	Het
Rai1	T	A	11: 60,186,746 (GRCm38)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,143,103 (GRCm38)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,192,804 (GRCm38)	S205L	probably damaging	Het
Rec8	T	C	14: 55,625,330 (GRCm38)	L582P	probably damaging	Het
Retn	G	A	8: 3,657,358 (GRCm38)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,452,662 (GRCm38)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,481,240 (GRCm38)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,582,344 (GRCm38)	I399M	probably benign	Het
Sez6	G	T	11: 77,975,260 (GRCm38)	G738V	probably damaging	Het
Spata17	A	G	1: 187,140,446 (GRCm38)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,701,728 (GRCm38)	V862D	probably damaging	Het
Sptb	A	G	12: 76,624,994 (GRCm38)		probably null	Het
Srpk2	C	A	5: 23,545,529 (GRCm38)	G59W	probably damaging	Het
Ttc30a1	T	C	2: 75,979,744 (GRCm38)	*665W	probably null	Het
Ube2v1	A	G	2: 167,610,360 (GRCm38)	S108P	probably damaging	Het
Usp2	C	T	9: 44,075,828 (GRCm38)	S141L	probably benign	Het
Vamp5	T	C	6: 72,370,198 (GRCm38)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,926,325 (GRCm38)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,547,408 (GRCm38)	S490N	probably benign	Het
Vps39	A	T	2: 120,352,959 (GRCm38)	I10N	probably damaging	Het
Vwf	C	T	6: 125,645,934 (GRCm38)	Q1755*	probably null	Het
Wdfy4	A	T	14: 33,155,760 (GRCm38)	H82Q	probably benign	Het
Wdr24	T	C	17: 25,826,127 (GRCm38)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,210,561 (GRCm38)	T852A	probably benign	Het
Zfp1	T	A	8: 111,669,723 (GRCm38)	C92*	probably null	Het
Zfp426	A	T	9: 20,475,073 (GRCm38)		probably benign	Het
Zfp442	C	T	2: 150,411,210 (GRCm38)		probably null	Het
Zfp74	T	C	7: 29,936,045 (GRCm38)		probably benign	Het

Other mutations in Tyro3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Tyro3	APN	2	119,813,200 (GRCm38)	missense	probably damaging	1.00
IGL02221:Tyro3	APN	2	119,812,590 (GRCm38)	missense	probably benign	0.00
IGL02389:Tyro3	APN	2	119,804,864 (GRCm38)	splice site	probably benign
IGL02442:Tyro3	APN	2	119,808,868 (GRCm38)	missense	probably benign	0.16
PIT4382001:Tyro3	UTSW	2	119,802,364 (GRCm38)	missense	probably damaging	1.00
R0078:Tyro3	UTSW	2	119,817,006 (GRCm38)	missense	probably damaging	1.00
R0087:Tyro3	UTSW	2	119,801,701 (GRCm38)	missense	probably benign	0.38
R0503:Tyro3	UTSW	2	119,803,230 (GRCm38)	splice site	probably benign
R0551:Tyro3	UTSW	2	119,816,904 (GRCm38)	missense	probably damaging	1.00
R1858:Tyro3	UTSW	2	119,801,695 (GRCm38)	missense	possibly damaging	0.95
R1902:Tyro3	UTSW	2	119,801,695 (GRCm38)	missense	possibly damaging	0.73
R1980:Tyro3	UTSW	2	119,808,817 (GRCm38)	missense	probably benign
R2294:Tyro3	UTSW	2	119,805,645 (GRCm38)	missense	probably damaging	0.99
R3877:Tyro3	UTSW	2	119,813,293 (GRCm38)	missense	probably damaging	0.98
R4651:Tyro3	UTSW	2	119,816,868 (GRCm38)	missense	probably benign	0.01
R4652:Tyro3	UTSW	2	119,816,868 (GRCm38)	missense	probably benign	0.01
R4698:Tyro3	UTSW	2	119,803,270 (GRCm38)	missense	probably damaging	1.00
R4757:Tyro3	UTSW	2	119,810,938 (GRCm38)	missense	probably damaging	1.00
R5193:Tyro3	UTSW	2	119,810,517 (GRCm38)	missense	probably damaging	1.00
R5366:Tyro3	UTSW	2	119,804,831 (GRCm38)	missense	probably damaging	1.00
R5693:Tyro3	UTSW	2	119,810,868 (GRCm38)	missense	probably damaging	1.00
R6017:Tyro3	UTSW	2	119,816,666 (GRCm38)	missense	probably damaging	1.00
R6110:Tyro3	UTSW	2	119,812,823 (GRCm38)	missense	probably damaging	1.00
R6160:Tyro3	UTSW	2	119,803,270 (GRCm38)	missense	probably damaging	0.98
R6290:Tyro3	UTSW	2	119,816,840 (GRCm38)	missense	probably benign
R6293:Tyro3	UTSW	2	119,808,000 (GRCm38)	missense	possibly damaging	0.89
R6366:Tyro3	UTSW	2	119,816,675 (GRCm38)	missense	probably damaging	0.96
R6712:Tyro3	UTSW	2	119,804,854 (GRCm38)	missense	probably null	0.44
R7645:Tyro3	UTSW	2	119,816,906 (GRCm38)	missense	probably damaging	1.00
R9378:Tyro3	UTSW	2	119,812,167 (GRCm38)	missense	probably damaging	1.00
R9541:Tyro3	UTSW	2	119,812,108 (GRCm38)	missense	possibly damaging	0.47
Z1088:Tyro3	UTSW	2	119,809,467 (GRCm38)	missense	probably benign	0.31
Z1177:Tyro3	UTSW	2	119,809,991 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAGTCTGCTCAGTGGAGTTGC -3'
(R):5'- GCAGTCCAGCTTACATTAAGTTCTC -3'

Sequencing Primer
(F):5'- CAGACAGGGTTTCACTATGTAGC -3'
(R):5'- CTTCTGCAGAGTTATAGGTCTTAGC -3'

Posted On

2016-03-17