Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Pcdh17'

714774

Institutional Source

Beutler Lab

Gene Symbol

Pcdh17

Ensembl Gene

ENSMUSG00000035566

Gene Name

protocadherin 17

Synonyms

C030033F14Rik, LOC219228

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84443563-84539002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84448623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 843 (E843D)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably benign
Transcript: ENSMUST00000071370
AA Change: E843D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: E843D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Pcdh17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pcdh17	APN	14	84447544	missense	probably damaging	1.00
IGL00902:Pcdh17	APN	14	84446849	missense	probably damaging	1.00
IGL01596:Pcdh17	APN	14	84448192	missense	probably damaging	1.00
IGL01665:Pcdh17	APN	14	84447002	missense	probably damaging	0.99
IGL01944:Pcdh17	APN	14	84447520	missense	probably benign	0.01
IGL01944:Pcdh17	APN	14	84447521	missense	probably damaging	0.98
IGL01977:Pcdh17	APN	14	84533097	missense	possibly damaging	0.49
IGL01988:Pcdh17	APN	14	84446622	missense	probably damaging	1.00
IGL02168:Pcdh17	APN	14	84533195	missense	probably benign	0.19
IGL02500:Pcdh17	APN	14	84533469	missense	probably benign	0.17
IGL02874:Pcdh17	APN	14	84448240	missense	possibly damaging	0.71
IGL02882:Pcdh17	APN	14	84446661	missense	probably damaging	0.98
IGL02941:Pcdh17	APN	14	84448307	missense	probably damaging	1.00
IGL03328:Pcdh17	APN	14	84533111	missense	probably benign
R0226_Pcdh17_958	UTSW	14	84448201	missense	probably damaging	0.99
R3405_Pcdh17_345	UTSW	14	84446622	missense	probably damaging	1.00
PIT4151001:Pcdh17	UTSW	14	84447358	missense	probably benign	0.05
R0226:Pcdh17	UTSW	14	84448201	missense	probably damaging	0.99
R0537:Pcdh17	UTSW	14	84447457	missense	probably damaging	1.00
R0647:Pcdh17	UTSW	14	84447773	missense	possibly damaging	0.58
R0939:Pcdh17	UTSW	14	84447755	missense	probably damaging	1.00
R1014:Pcdh17	UTSW	14	84447488	missense	probably damaging	1.00
R1753:Pcdh17	UTSW	14	84477654	missense	probably benign	0.17
R3404:Pcdh17	UTSW	14	84446622	missense	probably damaging	1.00
R3405:Pcdh17	UTSW	14	84446622	missense	probably damaging	1.00
R3406:Pcdh17	UTSW	14	84446622	missense	probably damaging	1.00
R3746:Pcdh17	UTSW	14	84533037	missense	probably benign	0.02
R3852:Pcdh17	UTSW	14	84447259	nonsense	probably null
R4015:Pcdh17	UTSW	14	84447107	missense	probably damaging	0.99
R4348:Pcdh17	UTSW	14	84447620	missense	probably damaging	0.97
R4365:Pcdh17	UTSW	14	84448286	missense	probably damaging	0.97
R4375:Pcdh17	UTSW	14	84448271	missense	possibly damaging	0.80
R4693:Pcdh17	UTSW	14	84533520	missense	probably damaging	1.00
R4811:Pcdh17	UTSW	14	84447935	missense	probably damaging	1.00
R5007:Pcdh17	UTSW	14	84533297	missense	probably benign
R5074:Pcdh17	UTSW	14	84533342	missense	probably benign
R5080:Pcdh17	UTSW	14	84533310	missense	probably benign	0.01
R5138:Pcdh17	UTSW	14	84447209	missense	probably damaging	1.00
R5330:Pcdh17	UTSW	14	84533046	missense	probably damaging	1.00
R5541:Pcdh17	UTSW	14	84447416	missense	probably damaging	0.97
R5686:Pcdh17	UTSW	14	84532993	missense	probably damaging	1.00
R5692:Pcdh17	UTSW	14	84448540	missense	probably benign	0.22
R5695:Pcdh17	UTSW	14	84446360	missense	probably damaging	1.00
R5949:Pcdh17	UTSW	14	84447556	missense	probably damaging	1.00
R6127:Pcdh17	UTSW	14	84533060	missense	probably damaging	0.96
R6294:Pcdh17	UTSW	14	84477668	missense	probably benign	0.01
R6508:Pcdh17	UTSW	14	84447979	missense	probably damaging	1.00
R6726:Pcdh17	UTSW	14	84446217	missense	probably damaging	1.00
R7094:Pcdh17	UTSW	14	84447395	missense	probably damaging	1.00
R7137:Pcdh17	UTSW	14	84533549	missense	possibly damaging	0.65
R7828:Pcdh17	UTSW	14	84532985	missense	probably damaging	0.99
R7904:Pcdh17	UTSW	14	84448484	missense	possibly damaging	0.94
R8507:Pcdh17	UTSW	14	84445944	start gained	probably benign
R9069:Pcdh17	UTSW	14	84447644	missense	possibly damaging	0.58
R9239:Pcdh17	UTSW	14	84533209	missense	probably benign	0.45
R9283:Pcdh17	UTSW	14	84448153	missense	possibly damaging	0.78
R9382:Pcdh17	UTSW	14	84448082	missense	probably damaging	1.00
R9402:Pcdh17	UTSW	14	84447206	missense	probably damaging	1.00
R9548:Pcdh17	UTSW	14	84447962	missense	possibly damaging	0.67
R9560:Pcdh17	UTSW	14	84533458	missense	probably benign	0.00
R9777:Pcdh17	UTSW	14	84446243	missense	probably benign	0.00
R9792:Pcdh17	UTSW	14	84532910	nonsense	probably null
R9793:Pcdh17	UTSW	14	84532910	nonsense	probably null
R9794:Pcdh17	UTSW	14	84532910	nonsense	probably null
R9795:Pcdh17	UTSW	14	84532910	nonsense	probably null
X0025:Pcdh17	UTSW	14	84446562	missense	possibly damaging	0.86
X0026:Pcdh17	UTSW	14	84533097	missense	possibly damaging	0.49
X0027:Pcdh17	UTSW	14	84448310	missense	possibly damaging	0.80
Z1088:Pcdh17	UTSW	14	84448274	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CATGAACGTGGTGAGCAGTC -3'
(R):5'- AGGGATTCTGAATAGCCAATGG -3'

Sequencing Primer
(F):5'- TGAGCAGTCCCTCCCTG -3'
(R):5'- TAGCCAATGGTATTCACACAGGGTC -3'

Posted On

2022-06-15