Mutagenetix > Incidental Mutation

Incidental Mutation 'R5692:Pcdh17'

443746

Institutional Source

Beutler Lab

Gene Symbol

Pcdh17

Ensembl Gene

ENSMUSG00000035566

Gene Name

protocadherin 17

Synonyms

C030033F14Rik, LOC219228

MMRRC Submission

043179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84685980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 816 (P816S)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably benign
Transcript: ENSMUST00000071370
AA Change: P816S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: P816S

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: 98.7%
10x: 97.4%
20x: 95.8%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	G	A	9: 8,221,991 (GRCm39)		noncoding transcript	Het
Adcy10	A	G	1: 165,342,875 (GRCm39)	N247S	probably benign	Het
Ago3	T	C	4: 126,248,862 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,797,223 (GRCm39)	V168A	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap26	T	A	18: 39,254,945 (GRCm39)	V274E	probably damaging	Het
Clec4d	T	C	6: 123,245,104 (GRCm39)		probably null	Het
Dennd4b	T	C	3: 90,185,090 (GRCm39)	Y1166H	probably damaging	Het
Egln3	T	C	12: 54,227,447 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fhad1	T	A	4: 141,690,768 (GRCm39)	M434L	probably benign	Het
Gfm1	T	G	3: 67,342,955 (GRCm39)	M163R	probably damaging	Het
Isg15	A	T	4: 156,284,279 (GRCm39)	L83Q	probably damaging	Het
Ly9	GCCTTTGGGGGACAATTCC	GCC	1: 171,432,755 (GRCm39)		probably null	Het
Med1	G	T	11: 98,047,206 (GRCm39)		probably benign	Het
Mrc2	T	A	11: 105,227,468 (GRCm39)	V567D	probably damaging	Het
Nnmt	G	T	9: 48,514,780 (GRCm39)	T79K	probably benign	Het
Opn1sw	G	A	6: 29,379,840 (GRCm39)		probably benign	Het
Optc	G	T	1: 133,828,714 (GRCm39)		probably benign	Het
Pcdhb15	T	C	18: 37,607,502 (GRCm39)	S245P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Sacs	T	C	14: 61,445,288 (GRCm39)	F2445L	probably benign	Het
Sel1l	T	C	12: 91,778,652 (GRCm39)	N721S	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Sulf2	C	A	2: 165,923,426 (GRCm39)	A598S	probably benign	Het
Tph2	A	T	10: 115,020,732 (GRCm39)	D21E	probably damaging	Het
Trf	T	C	9: 103,103,324 (GRCm39)	Y110C	possibly damaging	Het
Ttn	C	T	2: 76,628,202 (GRCm39)	E14653K	possibly damaging	Het
Vmn2r18	A	G	5: 151,485,724 (GRCm39)	I590T	possibly damaging	Het
Zfp607b	G	T	7: 27,402,889 (GRCm39)	K448N	probably benign	Het
Zfp689	T	C	7: 127,048,071 (GRCm39)		probably benign	Het
Zfp709	C	T	8: 72,643,999 (GRCm39)	P476L	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
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
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'- ACTTACAACTGCCGCATCGC -3'
(R):5'- CAAAGGTCTCAGGACAGCACAG -3'

Sequencing Primer
(F):5'- GTACAGCCACCCTCAGCTAGG -3'
(R):5'- GCAAAAGCTTTTATGTGAAGTCCCC -3'

Posted On

2016-11-09