Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Pcdh17'

182003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh17

Ensembl Gene

ENSMUSG00000035566

Gene Name

protocadherin 17

Synonyms

C030033F14Rik, LOC219228

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84684062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 176 (D176E)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071370]

AlphaFold

E9PXF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071370
AA Change: D176E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: D176E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CA	54	131	6.8e-4	SMART
CA	155	242	8.81e-21	SMART
CA	266	350	8.27e-26	SMART
CA	375	468	9.14e-28	SMART
CA	492	579	8.4e-27	SMART
CA	608	687	2.53e-12	SMART
low complexity region	703	725	N/A	INTRINSIC
low complexity region	751	759	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226362

Meta Mutation Damage Score

0.1555

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic transmission, increased synaptic vesicle number and decreased depression-related behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Col24a1	T	C	3: 145,229,922 (GRCm39)		probably null	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dcaf12	T	C	4: 41,298,299 (GRCm39)	N283S	probably benign	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Spty2d1	T	A	7: 46,647,358 (GRCm39)	S524C	probably damaging	Het
Syndig1	T	C	2: 149,845,090 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tmem176a	T	A	6: 48,819,554 (GRCm39)	V11E	possibly damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	Het

Other mutations in Pcdh17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pcdh17	APN	14	84,684,984 (GRCm39)	missense	probably damaging	1.00
IGL00902:Pcdh17	APN	14	84,684,289 (GRCm39)	missense	probably damaging	1.00
IGL01596:Pcdh17	APN	14	84,685,632 (GRCm39)	missense	probably damaging	1.00
IGL01665:Pcdh17	APN	14	84,684,442 (GRCm39)	missense	probably damaging	0.99
IGL01944:Pcdh17	APN	14	84,684,961 (GRCm39)	missense	probably damaging	0.98
IGL01944:Pcdh17	APN	14	84,684,960 (GRCm39)	missense	probably benign	0.01
IGL01977:Pcdh17	APN	14	84,770,537 (GRCm39)	missense	possibly damaging	0.49
IGL02168:Pcdh17	APN	14	84,770,635 (GRCm39)	missense	probably benign	0.19
IGL02500:Pcdh17	APN	14	84,770,909 (GRCm39)	missense	probably benign	0.17
IGL02874:Pcdh17	APN	14	84,685,680 (GRCm39)	missense	possibly damaging	0.71
IGL02882:Pcdh17	APN	14	84,684,101 (GRCm39)	missense	probably damaging	0.98
IGL02941:Pcdh17	APN	14	84,685,747 (GRCm39)	missense	probably damaging	1.00
IGL03328:Pcdh17	APN	14	84,770,551 (GRCm39)	missense	probably benign
R0226_Pcdh17_958	UTSW	14	84,685,641 (GRCm39)	missense	probably damaging	0.99
R3405_Pcdh17_345	UTSW	14	84,684,062 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Pcdh17	UTSW	14	84,684,798 (GRCm39)	missense	probably benign	0.05
R0226:Pcdh17	UTSW	14	84,685,641 (GRCm39)	missense	probably damaging	0.99
R0537:Pcdh17	UTSW	14	84,684,897 (GRCm39)	missense	probably damaging	1.00
R0647:Pcdh17	UTSW	14	84,685,213 (GRCm39)	missense	possibly damaging	0.58
R0939:Pcdh17	UTSW	14	84,685,195 (GRCm39)	missense	probably damaging	1.00
R1014:Pcdh17	UTSW	14	84,684,928 (GRCm39)	missense	probably damaging	1.00
R1753:Pcdh17	UTSW	14	84,715,094 (GRCm39)	missense	probably benign	0.17
R3404:Pcdh17	UTSW	14	84,684,062 (GRCm39)	missense	probably damaging	1.00
R3405:Pcdh17	UTSW	14	84,684,062 (GRCm39)	missense	probably damaging	1.00
R3406:Pcdh17	UTSW	14	84,684,062 (GRCm39)	missense	probably damaging	1.00
R3746:Pcdh17	UTSW	14	84,770,477 (GRCm39)	missense	probably benign	0.02
R3852:Pcdh17	UTSW	14	84,684,699 (GRCm39)	nonsense	probably null
R4015:Pcdh17	UTSW	14	84,684,547 (GRCm39)	missense	probably damaging	0.99
R4348:Pcdh17	UTSW	14	84,685,060 (GRCm39)	missense	probably damaging	0.97
R4365:Pcdh17	UTSW	14	84,685,726 (GRCm39)	missense	probably damaging	0.97
R4375:Pcdh17	UTSW	14	84,685,711 (GRCm39)	missense	possibly damaging	0.80
R4693:Pcdh17	UTSW	14	84,770,960 (GRCm39)	missense	probably damaging	1.00
R4811:Pcdh17	UTSW	14	84,685,375 (GRCm39)	missense	probably damaging	1.00
R5007:Pcdh17	UTSW	14	84,770,737 (GRCm39)	missense	probably benign
R5074:Pcdh17	UTSW	14	84,770,782 (GRCm39)	missense	probably benign
R5080:Pcdh17	UTSW	14	84,770,750 (GRCm39)	missense	probably benign	0.01
R5138:Pcdh17	UTSW	14	84,684,649 (GRCm39)	missense	probably damaging	1.00
R5330:Pcdh17	UTSW	14	84,770,486 (GRCm39)	missense	probably damaging	1.00
R5541:Pcdh17	UTSW	14	84,684,856 (GRCm39)	missense	probably damaging	0.97
R5686:Pcdh17	UTSW	14	84,770,433 (GRCm39)	missense	probably damaging	1.00
R5692:Pcdh17	UTSW	14	84,685,980 (GRCm39)	missense	probably benign	0.22
R5695:Pcdh17	UTSW	14	84,683,800 (GRCm39)	missense	probably damaging	1.00
R5949:Pcdh17	UTSW	14	84,684,996 (GRCm39)	missense	probably damaging	1.00
R6127:Pcdh17	UTSW	14	84,770,500 (GRCm39)	missense	probably damaging	0.96
R6294:Pcdh17	UTSW	14	84,715,108 (GRCm39)	missense	probably benign	0.01
R6508:Pcdh17	UTSW	14	84,685,419 (GRCm39)	missense	probably damaging	1.00
R6726:Pcdh17	UTSW	14	84,683,657 (GRCm39)	missense	probably damaging	1.00
R7094:Pcdh17	UTSW	14	84,684,835 (GRCm39)	missense	probably damaging	1.00
R7137:Pcdh17	UTSW	14	84,770,989 (GRCm39)	missense	possibly damaging	0.65
R7828:Pcdh17	UTSW	14	84,770,425 (GRCm39)	missense	probably damaging	0.99
R7904:Pcdh17	UTSW	14	84,685,924 (GRCm39)	missense	possibly damaging	0.94
R8507:Pcdh17	UTSW	14	84,683,384 (GRCm39)	start gained	probably benign
R9069:Pcdh17	UTSW	14	84,685,084 (GRCm39)	missense	possibly damaging	0.58
R9239:Pcdh17	UTSW	14	84,770,649 (GRCm39)	missense	probably benign	0.45
R9283:Pcdh17	UTSW	14	84,685,593 (GRCm39)	missense	possibly damaging	0.78
R9382:Pcdh17	UTSW	14	84,685,522 (GRCm39)	missense	probably damaging	1.00
R9402:Pcdh17	UTSW	14	84,684,646 (GRCm39)	missense	probably damaging	1.00
R9459:Pcdh17	UTSW	14	84,686,063 (GRCm39)	missense	probably benign	0.00
R9548:Pcdh17	UTSW	14	84,685,402 (GRCm39)	missense	possibly damaging	0.67
R9560:Pcdh17	UTSW	14	84,770,898 (GRCm39)	missense	probably benign	0.00
R9777:Pcdh17	UTSW	14	84,683,683 (GRCm39)	missense	probably benign	0.00
R9792:Pcdh17	UTSW	14	84,770,350 (GRCm39)	nonsense	probably null
R9793:Pcdh17	UTSW	14	84,770,350 (GRCm39)	nonsense	probably null
R9794:Pcdh17	UTSW	14	84,770,350 (GRCm39)	nonsense	probably null
R9795:Pcdh17	UTSW	14	84,770,350 (GRCm39)	nonsense	probably null
X0025:Pcdh17	UTSW	14	84,684,002 (GRCm39)	missense	possibly damaging	0.86
X0026:Pcdh17	UTSW	14	84,770,537 (GRCm39)	missense	possibly damaging	0.49
X0027:Pcdh17	UTSW	14	84,685,750 (GRCm39)	missense	possibly damaging	0.80
Z1088:Pcdh17	UTSW	14	84,685,714 (GRCm39)	missense	possibly damaging	0.68

Posted On

2014-05-07