Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Ptk7'

295854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptk7

Ensembl Gene

ENSMUSG00000023972

Gene Name

PTK7 protein tyrosine kinase 7

Synonyms

8430404F20Rik, mPTK7/CCK4, chz

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

46875397-46940430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46901070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 219 (V219E)

Ref Sequence

ENSEMBL: ENSMUSP00000043703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044442]

AlphaFold

Q8BKG3

Predicted Effect

probably benign
Transcript: ENSMUST00000044442
AA Change: V219E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: V219E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGc2	36	100	1.48e-6	SMART
IGc2	133	199	8.12e-13	SMART
IGc2	229	300	5.01e-4	SMART
IGc2	326	390	1.96e-6	SMART
IG	410	491	6.02e-7	SMART
IGc2	507	569	1.19e-10	SMART
IGc2	596	663	2.6e-11	SMART
transmembrane domain	696	718	N/A	INTRINSIC
TyrKc	788	1053	4.34e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die perinatally with defects in neural tube closure and planar cell polarity in the ear. ENU-induced mutant mice show omphalocele, impaired neural tube, heart and lung development, rib defects, polydactyly, failed eyelid closure and altered cell polarity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,327,712 (GRCm39)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,324,578 (GRCm39)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,078,512 (GRCm39)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,143,494 (GRCm39)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,919,552 (GRCm39)	S446A	probably benign	Het
Cd9	A	T	6: 125,449,458 (GRCm39)	V28E	probably damaging	Het
Cops2	A	T	2: 125,678,163 (GRCm39)		probably benign	Het
Csn1s1	C	T	5: 87,825,453 (GRCm39)		probably benign	Het
Cul9	G	T	17: 46,851,302 (GRCm39)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,126,640 (GRCm39)	H1457N	probably damaging	Het
Dennd2b	C	A	7: 109,155,442 (GRCm39)	R436L	possibly damaging	Het
Dnah9	A	G	11: 65,920,189 (GRCm39)	S2235P	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm39)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,684 (GRCm39)	V301L	probably damaging	Het
Hfm1	T	C	5: 107,049,627 (GRCm39)	S445G	probably benign	Het
Hif3a	A	G	7: 16,773,603 (GRCm39)		probably benign	Het
Hsd17b4	T	C	18: 50,288,220 (GRCm39)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,049,772 (GRCm39)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,703,671 (GRCm39)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,186,797 (GRCm39)	W128R	probably damaging	Het
Ism1	T	C	2: 139,599,121 (GRCm39)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,670,470 (GRCm39)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,755,439 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,654,042 (GRCm39)	R321G	probably damaging	Het
Msl2	T	C	9: 100,977,854 (GRCm39)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,351,684 (GRCm39)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,144,467 (GRCm39)		probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or13a18	A	C	7: 140,190,081 (GRCm39)	M1L	probably benign	Het
Or5b98	T	A	19: 12,931,556 (GRCm39)	I201N	possibly damaging	Het
Or6b1	A	C	6: 42,815,738 (GRCm39)	I308L	probably benign	Het
P4ha1	A	G	10: 59,206,824 (GRCm39)		probably null	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,507 (GRCm39)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,303,535 (GRCm39)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,489,147 (GRCm39)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,171,716 (GRCm39)	I103V	probably benign	Het
Plscr3	C	A	11: 69,738,209 (GRCm39)		probably benign	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,266,407 (GRCm39)	E48*	probably null	Het
Ptgir	G	A	7: 16,641,409 (GRCm39)	V234I	possibly damaging	Het
Rab39b	T	A	X: 74,618,609 (GRCm39)	I74F	probably damaging	Het
Rasal2	A	T	1: 156,977,449 (GRCm39)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,750,885 (GRCm39)	A20T	probably null	Het
Serpinb10	A	C	1: 107,466,155 (GRCm39)		probably null	Het
Sipa1l1	T	A	12: 82,471,868 (GRCm39)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,528,468 (GRCm39)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,559,599 (GRCm39)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,659,247 (GRCm39)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,480 (GRCm39)	T542P	probably damaging	Het
Spats2	T	A	15: 99,071,329 (GRCm39)	I51N	probably damaging	Het
Spon1	G	T	7: 113,635,897 (GRCm39)	V704L	probably benign	Het
Tex9	T	A	9: 72,389,774 (GRCm39)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 115,919,486 (GRCm39)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,636,466 (GRCm39)	L247*	probably null	Het
Umodl1	G	T	17: 31,217,628 (GRCm39)	V1145F	probably damaging	Het
Vasp	C	A	7: 18,992,748 (GRCm39)		probably benign	Het
Vmn1r8	G	T	6: 57,013,556 (GRCm39)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,787,837 (GRCm39)	T505A	probably benign	Het
Wdr27	A	G	17: 15,112,693 (GRCm39)		probably benign	Het
Wfdc1	T	G	8: 120,406,909 (GRCm39)	V109G	probably damaging	Het
Zan	C	A	5: 137,463,056 (GRCm39)	E708*	probably null	Het
Zbtb1	T	A	12: 76,432,169 (GRCm39)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,648,117 (GRCm39)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,757,113 (GRCm39)	S349P	probably damaging	Het
Znfx1	A	T	2: 166,889,550 (GRCm39)	C731S	possibly damaging	Het

Other mutations in Ptk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ptk7	APN	17	46,885,353 (GRCm39)	missense	probably damaging	1.00
IGL01064:Ptk7	APN	17	46,884,492 (GRCm39)	nonsense	probably null
IGL01444:Ptk7	APN	17	46,876,313 (GRCm39)	missense	probably damaging	1.00
IGL01477:Ptk7	APN	17	46,887,806 (GRCm39)	missense	possibly damaging	0.61
IGL01727:Ptk7	APN	17	46,883,474 (GRCm39)	missense	probably damaging	1.00
IGL01958:Ptk7	APN	17	46,890,353 (GRCm39)	missense	probably benign	0.37
IGL02864:Ptk7	APN	17	46,883,659 (GRCm39)	missense	probably damaging	1.00
R0008:Ptk7	UTSW	17	46,883,688 (GRCm39)	splice site	probably benign
R0671:Ptk7	UTSW	17	46,901,238 (GRCm39)	missense	possibly damaging	0.94
R1464:Ptk7	UTSW	17	46,883,517 (GRCm39)	missense	probably damaging	1.00
R1464:Ptk7	UTSW	17	46,883,517 (GRCm39)	missense	probably damaging	1.00
R1549:Ptk7	UTSW	17	46,883,578 (GRCm39)	missense	probably damaging	1.00
R1635:Ptk7	UTSW	17	46,884,460 (GRCm39)	missense	possibly damaging	0.81
R1646:Ptk7	UTSW	17	46,897,223 (GRCm39)	missense	probably benign	0.44
R1846:Ptk7	UTSW	17	46,887,416 (GRCm39)	critical splice donor site	probably null
R1973:Ptk7	UTSW	17	46,897,733 (GRCm39)	nonsense	probably null
R2060:Ptk7	UTSW	17	46,877,164 (GRCm39)	missense	possibly damaging	0.83
R2155:Ptk7	UTSW	17	46,890,543 (GRCm39)	missense	probably benign	0.09
R2472:Ptk7	UTSW	17	46,887,774 (GRCm39)	missense	probably benign	0.35
R2937:Ptk7	UTSW	17	46,883,476 (GRCm39)	missense	probably damaging	0.99
R3824:Ptk7	UTSW	17	46,876,304 (GRCm39)	missense	probably damaging	1.00
R3845:Ptk7	UTSW	17	46,897,344 (GRCm39)	missense	probably benign	0.00
R4222:Ptk7	UTSW	17	46,885,389 (GRCm39)	missense	probably benign
R4671:Ptk7	UTSW	17	46,885,392 (GRCm39)	missense	probably benign
R4922:Ptk7	UTSW	17	46,887,417 (GRCm39)	critical splice donor site	probably null
R5319:Ptk7	UTSW	17	46,883,603 (GRCm39)	missense	probably damaging	1.00
R5993:Ptk7	UTSW	17	46,876,296 (GRCm39)	missense	probably benign
R6254:Ptk7	UTSW	17	46,883,568 (GRCm39)	missense	probably damaging	1.00
R6352:Ptk7	UTSW	17	46,887,816 (GRCm39)	missense	probably benign	0.00
R6806:Ptk7	UTSW	17	46,884,454 (GRCm39)	missense	probably damaging	0.99
R7338:Ptk7	UTSW	17	46,890,525 (GRCm39)	missense	probably benign	0.00
R7394:Ptk7	UTSW	17	46,902,683 (GRCm39)	missense	probably damaging	1.00
R7709:Ptk7	UTSW	17	46,882,569 (GRCm39)	missense	possibly damaging	0.81
R7949:Ptk7	UTSW	17	46,897,387 (GRCm39)	missense	possibly damaging	0.64
R8773:Ptk7	UTSW	17	46,877,193 (GRCm39)	missense	possibly damaging	0.88
R9059:Ptk7	UTSW	17	46,877,117 (GRCm39)	missense	probably damaging	1.00
R9327:Ptk7	UTSW	17	46,878,977 (GRCm39)	missense	probably benign	0.17
R9495:Ptk7	UTSW	17	46,887,744 (GRCm39)	missense	possibly damaging	0.82
R9514:Ptk7	UTSW	17	46,887,744 (GRCm39)	missense	possibly damaging	0.82
R9638:Ptk7	UTSW	17	46,890,519 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16