Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Ptk7'

221319

Institutional Source

Beutler Lab

Gene Symbol

Ptk7

Ensembl Gene

ENSMUSG00000023972

Gene Name

PTK7 protein tyrosine kinase 7

Synonyms

8430404F20Rik, mPTK7/CCK4, chz

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46875397-46940430 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 46897733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 282 (Q282*)

Ref Sequence

ENSEMBL: ENSMUSP00000043703 (fasta)

Gene Model

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

AlphaFold

Q8BKG3

Predicted Effect

probably null
Transcript: ENSMUST00000044442
AA Change: Q282*

SMART Domains

Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: Q282*

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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
Abcb1b	A	C	5: 8,862,746 (GRCm39)	I143L	probably benign	Het
Acp7	T	A	7: 28,307,414 (GRCm39)	D481V	probably damaging	Het
AI597479	T	A	1: 43,150,286 (GRCm39)	I132K	probably benign	Het
Anxa13	T	C	15: 58,228,030 (GRCm39)		noncoding transcript	Het
Brca1	A	T	11: 101,417,229 (GRCm39)	C302S	probably benign	Het
Brd8	T	A	18: 34,741,066 (GRCm39)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,350,603 (GRCm39)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,079,544 (GRCm39)	C294S	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chd6	A	G	2: 160,808,307 (GRCm39)	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,901,793 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,731,897 (GRCm39)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Efl1	T	C	7: 82,412,085 (GRCm39)	S825P	probably damaging	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm39)	E350K	probably benign	Het
Frem2	T	A	3: 53,559,653 (GRCm39)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,493,298 (GRCm39)	T6A	probably benign	Het
Gm5814	A	T	17: 47,721,474 (GRCm39)	M63L	probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,281 (GRCm39)	V359A	probably damaging	Het
Kit	G	A	5: 75,776,102 (GRCm39)	A295T	probably damaging	Het
Krt77	G	T	15: 101,769,679 (GRCm39)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,195,850 (GRCm39)	S638*	probably null	Het
Neurl4	C	T	11: 69,800,118 (GRCm39)	P1091S	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nos1	A	G	5: 118,074,491 (GRCm39)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,347,334 (GRCm39)	S202I	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Nwd1	T	C	8: 73,431,590 (GRCm39)	V1195A	possibly damaging	Het
Or10k2	T	C	8: 84,268,421 (GRCm39)	V216A	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or52a20	T	A	7: 103,365,804 (GRCm39)	M1K	probably null	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Or8g51	A	G	9: 38,609,164 (GRCm39)	V170A	probably damaging	Het
Pclo	G	T	5: 14,726,073 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,906,629 (GRCm39)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,760,917 (GRCm39)	T105I	probably benign	Het
Ptger1	C	A	8: 84,396,083 (GRCm39)	T380K	probably benign	Het
Ptpn18	G	T	1: 34,502,190 (GRCm39)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,243,365 (GRCm39)	D589G	probably damaging	Het
Rara	A	G	11: 98,862,496 (GRCm39)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Rslcan18	T	C	13: 67,256,087 (GRCm39)		probably benign	Het
Rtel1	A	G	2: 180,993,419 (GRCm39)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,316,501 (GRCm39)	S1666R	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 79,423,962 (GRCm39)		probably null	Het
Slc22a7	A	G	17: 46,748,016 (GRCm39)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,882,579 (GRCm39)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,897,478 (GRCm39)	K446E	probably benign	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,152 (GRCm39)	*876C	probably null	Het
Spink11	A	G	18: 44,329,205 (GRCm39)	C14R	unknown	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tnfaip3	T	C	10: 18,880,252 (GRCm39)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,605,308 (GRCm39)	M283T	probably benign	Het
Ttn	A	G	2: 76,544,706 (GRCm39)	S32799P	probably damaging	Het
Ttn	A	G	2: 76,550,443 (GRCm39)	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Usp32	G	T	11: 84,994,757 (GRCm39)	L52I	probably benign	Het
Usp33	A	G	3: 152,065,923 (GRCm39)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,011 (GRCm39)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vps26c	T	C	16: 94,302,405 (GRCm39)	N267S	probably damaging	Het
Wdr43	A	G	17: 71,947,235 (GRCm39)	N364D	probably benign	Het
Zdbf2	C	A	1: 63,348,860 (GRCm39)	P2413Q	unknown	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
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'- TGCTATCTAATTCAAACACGAGCCC -3'
(R):5'- GACGCTAAGTATGCTTGGGG -3'

Sequencing Primer
(F):5'- AGCCCTAAATCCCCGGGAG -3'
(R):5'- GGTGTAACTATAGACATGCATGC -3'

Posted On

2014-08-25