Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Ptk7'

207763

Institutional Source

Beutler Lab

Gene Symbol

Ptk7

Ensembl Gene

ENSMUSG00000023972

Gene Name

PTK7 protein tyrosine kinase 7

Synonyms

8430404F20Rik, mPTK7/CCK4, chz

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46875397-46940430 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 46887416 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

0.9491

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,246,809 (GRCm39)	R63Q	probably benign	Het
Adamts20	A	T	15: 94,243,871 (GRCm39)	C619S	probably damaging	Het
Alx1	T	C	10: 102,861,165 (GRCm39)	D121G	possibly damaging	Het
Anks3	A	C	16: 4,771,748 (GRCm39)	M215R	probably benign	Het
Anxa4	T	A	6: 86,718,893 (GRCm39)		probably null	Het
Arhgef25	A	G	10: 127,021,733 (GRCm39)	V222A	probably damaging	Het
Bglap2	A	G	3: 88,285,932 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,564,674 (GRCm39)	V22A	probably benign	Het
Ccdc198	G	T	14: 49,473,420 (GRCm39)	L102I	probably damaging	Het
Cenpe	T	A	3: 134,945,606 (GRCm39)	I1040N	probably damaging	Het
Cep170	C	T	1: 176,583,335 (GRCm39)	D1015N	probably damaging	Het
Chia1	T	A	3: 106,038,181 (GRCm39)	I359N	probably damaging	Het
Crot	A	T	5: 9,038,248 (GRCm39)	V93E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnmbp	T	C	19: 43,891,186 (GRCm39)	I194V	probably damaging	Het
Dock4	T	A	12: 40,783,267 (GRCm39)	C734S	probably benign	Het
Eif4e3	T	C	6: 99,617,662 (GRCm39)	S70G	probably benign	Het
Entpd3	G	A	9: 120,387,441 (GRCm39)	D213N	probably benign	Het
Ern2	T	G	7: 121,775,759 (GRCm39)	Y445S	probably benign	Het
Fasn	A	G	11: 120,704,133 (GRCm39)	S1429P	probably benign	Het
Fat4	A	G	3: 39,036,532 (GRCm39)	I3395V	probably benign	Het
Fbln2	C	A	6: 91,233,399 (GRCm39)	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,153,845 (GRCm39)	N164D	probably benign	Het
Fez1	T	C	9: 36,779,063 (GRCm39)	S247P	probably damaging	Het
Gars1	A	G	6: 55,040,153 (GRCm39)	D360G	probably benign	Het
Gcfc2	A	T	6: 81,933,873 (GRCm39)	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,446,376 (GRCm39)		probably null	Het
Glp1r	A	G	17: 31,148,909 (GRCm39)		probably null	Het
Hspa14	T	C	2: 3,492,697 (GRCm39)	D356G	possibly damaging	Het
Htt	T	A	5: 35,006,288 (GRCm39)	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,704,484 (GRCm39)		probably benign	Het
Krt36	C	A	11: 99,996,374 (GRCm39)	G17C	probably damaging	Het
Lama2	T	C	10: 27,088,092 (GRCm39)	E895G	probably damaging	Het
Lamb2	G	A	9: 108,364,586 (GRCm39)	R1142H	probably benign	Het
Lhcgr	C	T	17: 89,072,575 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,532,064 (GRCm39)	T140A	probably benign	Het
Metap1	A	G	3: 138,186,443 (GRCm39)		probably benign	Het
Mpeg1	T	C	19: 12,440,486 (GRCm39)	V648A	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369 (GRCm38)	I749N	probably benign	Het
N4bp2	T	C	5: 65,965,862 (GRCm39)	F1304L	probably damaging	Het
Nup85	A	G	11: 115,459,239 (GRCm39)	E114G	probably benign	Het
Or2a5	A	G	6: 42,874,254 (GRCm39)	S290G	probably damaging	Het
Or4c10	A	G	2: 89,761,010 (GRCm39)	T286A	possibly damaging	Het
Or6b2b	A	T	1: 92,418,822 (GRCm39)	Y218*	probably null	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,052,843 (GRCm39)	C145*	probably null	Het
Plpp6	T	C	19: 28,941,680 (GRCm39)	S94P	probably benign	Het
Polr1a	T	C	6: 71,953,172 (GRCm39)	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,574,043 (GRCm39)	V860E	probably damaging	Het
Ppp1r17	A	G	6: 55,999,412 (GRCm39)	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,786,831 (GRCm39)	W133R	probably damaging	Het
Rad23b	C	T	4: 55,383,637 (GRCm39)	Q290*	probably null	Het
Rorb	C	T	19: 18,932,445 (GRCm39)	E369K	probably damaging	Het
Rusc1	T	C	3: 88,999,452 (GRCm39)	D110G	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Stt3a	C	T	9: 36,674,681 (GRCm39)	R34H	probably damaging	Het
Sufu	T	A	19: 46,439,386 (GRCm39)	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,540,993 (GRCm39)	R289Q	probably damaging	Het
Tph1	A	T	7: 46,309,863 (GRCm39)	S130T	probably damaging	Het
Ttn	A	G	2: 76,776,030 (GRCm39)	S1671P	probably damaging	Het
Usp4	A	G	9: 108,249,935 (GRCm39)	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,013,413 (GRCm39)	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,578,357 (GRCm39)	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,438,546 (GRCm39)	P97S	probably damaging	Het
Zbtb40	T	C	4: 136,735,150 (GRCm39)	D297G	probably benign	Het
Zfp174	C	A	16: 3,672,599 (GRCm39)	Q383K	probably benign	Het
Zfp318	T	A	17: 46,724,592 (GRCm39)	D2198E	probably benign	Het
Zfp628	C	T	7: 4,923,866 (GRCm39)	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,409,112 (GRCm39)	N1695K	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
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'- CCTGATGTTACAGCTGTTGCCAG -3'
(R):5'- ACAGCTCCGTTGCTCACTAC -3'

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

Posted On

2014-06-23