Mutagenetix > Incidental Mutation

Incidental Mutation 'R9560:Pcdh17'

720975

Institutional Source

Beutler Lab

Gene Symbol

Pcdh17

Ensembl Gene

ENSMUSG00000035566

Gene Name

protocadherin 17

Synonyms

C030033F14Rik, LOC219228

Accession Numbers

Essential gene?

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

Stock #

R9560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84680626-84775005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84770898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1125 (D1125E)

Ref Sequence

ENSEMBL: ENSMUSP00000071325 (fasta)

Gene Model

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

AlphaFold

E9PXF0

Predicted Effect

probably benign
Transcript: ENSMUST00000071370
AA Change: D1125E

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

SMART Domains

Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: D1125E

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: 99.6%
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,082 (GRCm39)	R502G	probably damaging	Het
A930004D18Rik	G	A	2: 18,032,218 (GRCm39)		probably benign	Het
Abhd16b	T	A	2: 181,135,103 (GRCm39)	C2S	probably damaging	Het
Adam2	T	C	14: 66,275,102 (GRCm39)	M544V	probably benign	Het
Agbl3	T	A	6: 34,823,843 (GRCm39)	V841E	possibly damaging	Het
Aldh1l1	A	G	6: 90,536,825 (GRCm39)	D127G	probably damaging	Het
Ap1b1	G	A	11: 4,976,363 (GRCm39)	E464K	probably benign	Het
Cdh19	T	A	1: 110,821,004 (GRCm39)	E578V	possibly damaging	Het
Chat	G	A	14: 32,170,942 (GRCm39)	Q186*	probably null	Het
Cited4	A	G	4: 120,524,165 (GRCm39)	T56A	probably benign	Het
Cpt1a	T	C	19: 3,402,531 (GRCm39)	L63P	possibly damaging	Het
Havcr2	C	A	11: 46,347,164 (GRCm39)	A47E	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Klf5	A	T	14: 99,539,034 (GRCm39)	Q149L	probably benign	Het
Klk10	A	G	7: 43,433,746 (GRCm39)	Y186C	probably damaging	Het
Krt79	C	T	15: 101,846,277 (GRCm39)	E224K	probably damaging	Het
Llgl2	A	G	11: 115,725,682 (GRCm39)	D10G	probably damaging	Het
Lrrc37a	C	T	11: 103,347,420 (GRCm39)	V3092I	unknown	Het
Minar1	G	T	9: 89,484,531 (GRCm39)	Q289K	probably benign	Het
Nbeal1	A	G	1: 60,368,544 (GRCm39)	T2630A	probably damaging	Het
Ncor1	T	C	11: 62,263,948 (GRCm39)	T485A	possibly damaging	Het
Olfr908	G	A	9: 38,427,385 (GRCm39)	S19N	probably benign	Het
Or10h1b	C	T	17: 33,395,868 (GRCm39)	T164M	probably damaging	Het
Or10h5	G	A	17: 33,434,986 (GRCm39)	H111Y	probably damaging	Het
Or4c104	A	C	2: 88,586,290 (GRCm39)	I243S	possibly damaging	Het
Patj	G	A	4: 98,570,289 (GRCm39)	E1705K	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pnliprp2	T	C	19: 58,762,523 (GRCm39)	V376A	possibly damaging	Het
Pramel42	A	T	5: 94,685,640 (GRCm39)	R433S	possibly damaging	Het
Scn1a	A	T	2: 66,158,131 (GRCm39)	L414Q	probably damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	A	G	13: 34,381,851 (GRCm39)	V411A	possibly damaging	Het
Slco1c1	T	C	6: 141,515,076 (GRCm39)	V657A	probably benign	Het
Slco3a1	A	T	7: 74,153,931 (GRCm39)	Y214N	probably damaging	Het
Sned1	A	G	1: 93,202,110 (GRCm39)	T633A	probably damaging	Het
Tmem175	T	C	5: 108,789,693 (GRCm39)	F96S	probably damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Tsbp1	A	T	17: 34,663,016 (GRCm39)	Q103H	probably damaging	Het
Ubac2	G	A	14: 122,145,636 (GRCm39)	G98D	possibly damaging	Het
Unc50	T	A	1: 37,476,248 (GRCm39)	V136D	possibly damaging	Het
Vmn1r49	T	A	6: 90,049,382 (GRCm39)	M207L	probably benign	Het
Zfp853	T	C	5: 143,275,080 (GRCm39)	E195G	unknown	Het
Zfyve9	A	T	4: 108,575,334 (GRCm39)	N582K	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
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
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'- CTGTGAAGCAAAACCTGGGC -3'
(R):5'- TTTGCCATCCCTGTAAAGTGG -3'

Sequencing Primer
(F):5'- AACCTGGGCCCTTAGCAGAAG -3'
(R):5'- ATCCCTGTAAAGTGGGTTTTCAC -3'

Posted On

2022-08-09