Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01944:Pcdh17'

181188

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 #

IGL01944

Quality Score

Status

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84684961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 476 (V476E)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071370
AA Change: V476E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: V476E

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,230 (GRCm39)	V202D	probably damaging	Het
Afdn	A	G	17: 14,030,743 (GRCm39)	N218S	probably damaging	Het
Arhgef1	G	A	7: 24,625,208 (GRCm39)		probably null	Het
Atp1a2	G	T	1: 172,103,754 (GRCm39)	T959K	probably damaging	Het
Atp6v0a2	A	G	5: 124,774,043 (GRCm39)	E96G	probably benign	Het
B9d1	A	T	11: 61,403,205 (GRCm39)	M52L	probably benign	Het
Col6a6	T	A	9: 105,661,108 (GRCm39)	I334F	probably damaging	Het
Drd3	T	C	16: 43,638,671 (GRCm39)	F259L	probably benign	Het
Drosha	T	G	15: 12,889,805 (GRCm39)	L891R	probably damaging	Het
Ecpas	G	T	4: 58,861,544 (GRCm39)	T345K	probably benign	Het
Garin5b	T	C	7: 4,773,694 (GRCm39)	N67S	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Greb1l	T	C	18: 10,557,280 (GRCm39)	V1760A	possibly damaging	Het
Il36b	T	A	2: 24,045,291 (GRCm39)	W48R	probably damaging	Het
Ipo9	C	A	1: 135,333,624 (GRCm39)	V353F	probably damaging	Het
Kmt2a	A	T	9: 44,761,064 (GRCm39)	F126I	probably damaging	Het
Mmrn1	T	C	6: 60,948,167 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,924,971 (GRCm39)	C328*	probably null	Het
Or9g19	A	G	2: 85,600,384 (GRCm39)	I80V	probably damaging	Het
Prpf38b	A	T	3: 108,811,991 (GRCm39)	S291R	probably benign	Het
Rap1gap	T	C	4: 137,452,931 (GRCm39)	S601P	probably damaging	Het
Rnf213	T	C	11: 119,307,283 (GRCm39)	Y648H	probably benign	Het
Slfn3	A	G	11: 83,103,974 (GRCm39)	T282A	possibly damaging	Het
Ttll3	C	T	6: 113,391,076 (GRCm39)	T887I	probably benign	Het
Vmn1r197	A	G	13: 22,512,508 (GRCm39)	N143S	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo4	T	C	14: 57,841,855 (GRCm39)	I487V	probably benign	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	84,684,960 (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
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