Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Ptk7'

173916

Institutional Source

Beutler Lab

Gene Symbol

Ptk7

Ensembl Gene

ENSMUSG00000023972

Gene Name

PTK7 protein tyrosine kinase 7

Synonyms

8430404F20Rik, mPTK7/CCK4, chz

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1646 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

46875397-46940430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46897223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 370 (F370I)

Ref Sequence

ENSEMBL: ENSMUSP00000043703 (fasta)

Gene Model

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

AlphaFold

Q8BKG3

Predicted Effect

probably benign
Transcript: ENSMUST00000044442
AA Change: F370I

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: F370I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Dach1	A	G	14: 98,406,550 (GRCm39)	S66P	unknown	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Hells	A	T	19: 38,956,227 (GRCm39)	I808L	probably benign	Het
Icmt	T	A	4: 152,384,172 (GRCm39)	V110E	possibly damaging	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slamf9	A	G	1: 172,304,907 (GRCm39)	T174A	probably benign	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACACTGTCTTGGATGAGGAGACCAC -3'
(R):5'- TGCAGAGATTGAAGACATGCTGCC -3'

Sequencing Primer
(F):5'- gcagactcccagacagtg -3'
(R):5'- GAAGACATGCTGCCGTTTG -3'

Posted On

2014-04-24