Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02941:Pcdh17'

364508

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: 0.100) question?

Stock #

IGL02941

Quality Score

Status

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84685747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 738 (Y738C)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071370
AA Change: Y738C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: Y738C

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	G	A	7: 50,249,284 (GRCm39)	R106Q	probably damaging	Het
Amhr2	T	C	15: 102,355,724 (GRCm39)	V223A	probably damaging	Het
Aqr	T	A	2: 113,943,835 (GRCm39)	H1101L	probably damaging	Het
Arnt	T	A	3: 95,367,681 (GRCm39)		probably benign	Het
Cacnb2	G	A	2: 14,963,640 (GRCm39)	V85I	probably benign	Het
Cast	A	T	13: 74,848,806 (GRCm39)	D727E	probably damaging	Het
Ccdc134	C	T	15: 82,025,151 (GRCm39)	R217W	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Col5a3	A	G	9: 20,715,962 (GRCm39)	S360P	unknown	Het
Cyp4f16	T	C	17: 32,756,061 (GRCm39)	I30T	possibly damaging	Het
Dop1b	T	C	16: 93,552,361 (GRCm39)	F267L	probably benign	Het
Fbxo3	A	G	2: 103,880,639 (GRCm39)	T250A	probably damaging	Het
Gm4953	C	T	1: 158,995,963 (GRCm39)		noncoding transcript	Het
Gm9242	T	C	16: 97,292,279 (GRCm39)		probably benign	Het
Gsr	G	A	8: 34,179,453 (GRCm39)	V354I	probably damaging	Het
H2bc21	A	G	3: 96,128,732 (GRCm39)	Y84C	possibly damaging	Het
Hecw1	T	A	13: 14,552,311 (GRCm39)	D96V	probably damaging	Het
Il18r1	A	G	1: 40,537,711 (GRCm39)	Y492C	probably damaging	Het
Itgb5	T	G	16: 33,764,465 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,288,650 (GRCm39)	L832R	probably damaging	Het
Ms4a6c	A	G	19: 11,448,466 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 90,515,811 (GRCm39)	S1227G	probably damaging	Het
Or1j11	T	C	2: 36,312,132 (GRCm39)	C241R	probably damaging	Het
Or2c1	T	C	16: 3,657,680 (GRCm39)	V281A	possibly damaging	Het
Or52r1c	A	G	7: 102,735,528 (GRCm39)	T263A	probably benign	Het
Pcsk5	C	A	19: 17,424,865 (GRCm39)	C1646F	probably damaging	Het
Pirb	A	G	7: 3,720,377 (GRCm39)	V332A	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polrmt	A	T	10: 79,573,092 (GRCm39)		probably benign	Het
Saxo1	G	T	4: 86,363,821 (GRCm39)	R221S	probably damaging	Het
Specc1l	A	G	10: 75,077,022 (GRCm39)	I93V	probably benign	Het
St8sia2	T	A	7: 73,626,397 (GRCm39)		probably benign	Het
Tep1	A	T	14: 51,103,494 (GRCm39)	N265K	probably damaging	Het
Thbd	A	T	2: 148,248,954 (GRCm39)	Y305N	probably damaging	Het
Tmem120a	T	C	5: 135,764,605 (GRCm39)	T325A	probably damaging	Het
Vill	G	A	9: 118,895,955 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,077,507 (GRCm39)	D1060G	probably damaging	Het
Xrn2	T	A	2: 146,868,444 (GRCm39)	F166I	probably damaging	Het
Zc3h7a	T	G	16: 10,976,458 (GRCm39)		probably null	Het
Zdhhc13	G	A	7: 48,466,886 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,320,944 (GRCm39)	N724K	possibly damaging	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
IGL01988:Pcdh17	APN	14	84,684,062 (GRCm39)	missense	probably damaging	1.00
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
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

2015-12-18