Mutagenetix > Incidental Mutation

Incidental Mutation 'R4348:Pcdh17'

328416

Institutional Source

Beutler Lab

Gene Symbol

Pcdh17

Ensembl Gene

ENSMUSG00000035566

Gene Name

protocadherin 17

Synonyms

C030033F14Rik, LOC219228

MMRRC Submission

041103-MU

Accession Numbers

Essential gene?

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

Stock #

R4348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84685060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 509 (I509T)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071370
AA Change: I509T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: I509T

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Aass	A	G	6: 23,113,738 (GRCm39)	F235L	probably benign	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Adcy6	A	T	15: 98,502,041 (GRCm39)	V191E	probably benign	Het
Cngb3	G	A	4: 19,396,688 (GRCm39)	R347Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,554 (GRCm39)	C334S	probably damaging	Het
D7Ertd443e	ACCTAGGAGGTCCT	ACCT	7: 133,950,682 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,536,498 (GRCm39)	M2138K	possibly damaging	Het
Ebf2	T	C	14: 67,476,871 (GRCm39)	I138T	probably damaging	Het
Ect2l	A	G	10: 18,012,736 (GRCm39)	S784P	probably damaging	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Enah	A	T	1: 181,749,985 (GRCm39)	S266T	possibly damaging	Het
Fhip1b	A	G	7: 105,034,556 (GRCm39)	V422A	probably damaging	Het
Garem2	G	A	5: 30,310,366 (GRCm39)	R26H	possibly damaging	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Kcns3	T	C	12: 11,141,382 (GRCm39)	N439S	possibly damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mbd1	G	T	18: 74,407,487 (GRCm39)	R199L	probably damaging	Het
Mbd5	T	A	2: 49,146,339 (GRCm39)	M183K	probably benign	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Nckap1l	A	G	15: 103,395,246 (GRCm39)	T909A	probably damaging	Het
Ntrk2	A	G	13: 59,026,073 (GRCm39)	K464E	probably damaging	Het
Orc1	C	T	4: 108,450,649 (GRCm39)	T127I	probably damaging	Het
Pcsk7	G	A	9: 45,830,646 (GRCm39)	A475T	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Prdm16	A	G	4: 154,561,124 (GRCm39)	V136A	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptpn13	T	A	5: 103,717,592 (GRCm39)	S1879R	probably damaging	Het
Rasgrp3	A	T	17: 75,818,975 (GRCm39)	Q388L	probably benign	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Smco3	T	A	6: 136,808,692 (GRCm39)	T61S	possibly damaging	Het
Ssx2ip	T	C	3: 146,138,245 (GRCm39)	V364A	probably benign	Het
Ttn	A	G	2: 76,595,109 (GRCm39)	I20347T	possibly damaging	Het
Vmn2r120	A	T	17: 57,829,466 (GRCm39)	F477Y	possibly damaging	Het
Wee1	A	G	7: 109,730,165 (GRCm39)	H423R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTGACCATTGTGGCCCG -3'
(R):5'- CGTTCACGTCTAAAACCGTCAC -3'

Sequencing Primer
(F):5'- GGGCTCCCCTCCACTTAAC -3'
(R):5'- ACCGTCACCCTCACCGTG -3'

Posted On

2015-07-07