Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Ptk7'

378729

Institutional Source

Beutler Lab

Gene Symbol

Ptk7

Ensembl Gene

ENSMUSG00000023972

Gene Name

PTK7 protein tyrosine kinase 7

Synonyms

8430404F20Rik, mPTK7/CCK4, chz

MMRRC Submission

042524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46875397-46940430 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 46887417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043703 (fasta)

Gene Model

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

AlphaFold

Q8BKG3

Predicted Effect

probably null
Transcript: ENSMUST00000044442

SMART Domains

Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972

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

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,901,645 (GRCm39)	C423F	probably damaging	Het
Akap11	A	T	14: 78,750,220 (GRCm39)	Y722*	probably null	Het
Albfm1	A	G	5: 90,727,570 (GRCm39)	H396R	possibly damaging	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,467,934 (GRCm39)	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,537,039 (GRCm39)	T91S	possibly damaging	Het
Bcl2	C	A	1: 106,640,376 (GRCm39)	A79S	probably benign	Het
Bltp1	T	A	3: 37,041,314 (GRCm39)	I2564K	probably damaging	Het
Bmerb1	A	G	16: 13,804,683 (GRCm39)	H10R	possibly damaging	Het
Bmp10	C	T	6: 87,410,557 (GRCm39)	P117S	probably benign	Het
Bmpr2	A	G	1: 59,906,583 (GRCm39)	T559A	probably benign	Het
Cd200r1	A	T	16: 44,610,039 (GRCm39)	Y86F	probably damaging	Het
Cemip	T	A	7: 83,596,308 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,394,116 (GRCm39)	V335A	probably benign	Het
Cfap52	A	G	11: 67,822,548 (GRCm39)		probably null	Het
Chml	T	C	1: 175,514,712 (GRCm39)	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Clec12a	A	G	6: 129,336,441 (GRCm39)	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719 (GRCm39)	V370A	probably benign	Het
Cpsf3	T	C	12: 21,351,538 (GRCm39)	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,230,667 (GRCm39)	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,378,291 (GRCm39)	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,013,652 (GRCm39)	S249P	probably damaging	Het
Dnase2a	A	G	8: 85,635,625 (GRCm39)		probably null	Het
Dpp10	T	C	1: 123,305,882 (GRCm39)	N490S	probably benign	Het
Drgx	A	T	14: 32,330,363 (GRCm39)	N160I	probably damaging	Het
Enc1	C	T	13: 97,382,243 (GRCm39)	A251V	probably benign	Het
Fancd2	T	C	6: 113,562,434 (GRCm39)	V1258A	probably benign	Het
Fancm	G	A	12: 65,153,666 (GRCm39)		probably null	Het
Fbxo16	C	T	14: 65,536,657 (GRCm39)	T177I	probably benign	Het
Gm1965	T	C	6: 89,123,525 (GRCm39)		noncoding transcript	Het
Hal	A	T	10: 93,339,401 (GRCm39)	M497L	probably damaging	Het
Hectd4	T	C	5: 121,497,378 (GRCm39)	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 123,996,410 (GRCm39)	G359W	probably damaging	Het
Il6st	C	T	13: 112,639,399 (GRCm39)	P608L	probably damaging	Het
Kctd18	A	C	1: 58,004,707 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,940,309 (GRCm39)	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,545,311 (GRCm39)	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,655,474 (GRCm39)	C968G	probably benign	Het
Mylip	G	A	13: 45,562,238 (GRCm39)	A347T	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,252 (GRCm39)		noncoding transcript	Het
Neu4	T	A	1: 93,950,200 (GRCm39)	V53E	probably damaging	Het
Nxpe3	T	C	16: 55,680,687 (GRCm39)	I302V	probably benign	Het
Or11i1	A	T	3: 106,729,576 (GRCm39)	C100S	probably damaging	Het
Or4c15b	A	T	2: 89,112,811 (GRCm39)	L243Q	possibly damaging	Het
Otos	T	C	1: 92,572,090 (GRCm39)	T79A	probably damaging	Het
Pde4a	T	C	9: 21,122,009 (GRCm39)	I578T	probably damaging	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prex2	C	T	1: 11,240,164 (GRCm39)	P927S	probably damaging	Het
Prune2	A	T	19: 17,100,116 (GRCm39)	K1873N	probably benign	Het
Reln	T	A	5: 22,200,585 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,151,749 (GRCm39)		probably benign	Het
Rnf145	T	A	11: 44,448,063 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,724,849 (GRCm39)	E2488G	probably damaging	Het
Sgo2b	A	T	8: 64,379,664 (GRCm39)	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,259,245 (GRCm39)	V635A	probably benign	Het
Snx19	T	A	9: 30,348,763 (GRCm39)	Y101N	probably benign	Het
Sorl1	C	A	9: 41,925,746 (GRCm39)		probably null	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speer4a2	A	T	5: 26,289,791 (GRCm39)	I212N	probably damaging	Het
Tmem30b	G	A	12: 73,592,488 (GRCm39)	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,096,081 (GRCm39)	C52F	probably damaging	Het
Tsc2	T	A	17: 24,819,343 (GRCm39)	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,214,183 (GRCm39)	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,090,811 (GRCm39)	N134K	probably damaging	Het
Wdr27	C	A	17: 15,141,016 (GRCm39)		probably null	Het
Wdr75	T	C	1: 45,855,638 (GRCm39)	F430L	probably damaging	Het
Zfp629	A	G	7: 127,211,299 (GRCm39)	I170T	probably 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
IGL02496:Ptk7	APN	17	46,901,070 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGATGTTACAGCTGTTGC -3'
(R):5'- ACAGCTCCGTTGCTCACTAC -3'

Sequencing Primer
(F):5'- TGTTGCCAGCGATGCAG -3'
(R):5'- CGTTGCTCACTACTTCCCAATC -3'

Posted On

2016-04-15