Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00919:Pcdh1'

29405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh1

Ensembl Gene

ENSMUSG00000051375

Gene Name

protocadherin 1

Synonyms

2010005A06Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

IGL00919

Quality Score

Status

Chromosome

Chromosomal Location

38318967-38345023 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38335865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 118 (K118*)

Ref Sequence

ENSEMBL: ENSMUSP00000125576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057185] [ENSMUST00000159405] [ENSMUST00000160721] [ENSMUST00000161701] [ENSMUST00000193828] [ENSMUST00000194312]

AlphaFold

Q8CFX3

Predicted Effect

probably null
Transcript: ENSMUST00000057185
AA Change: K257*

SMART Domains

Protein: ENSMUSP00000055199
Gene: ENSMUSG00000051375
AA Change: K257*

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Cadherin_2	36	120	2e-8	PFAM
CA	168	256	5.18e-18	SMART
CA	280	363	5.68e-24	SMART
CA	395	482	1.84e-23	SMART
CA	506	588	2.99e-32	SMART
CA	612	691	9.36e-25	SMART
CA	717	798	9.9e-15	SMART
transmembrane domain	830	852	N/A	INTRINSIC
low complexity region	876	903	N/A	INTRINSIC
low complexity region	951	964	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159405
AA Change: K257*

SMART Domains

Protein: ENSMUSP00000125309
Gene: ENSMUSG00000051375
AA Change: K257*

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Cadherin_2	36	120	2e-8	PFAM
CA	168	256	5.18e-18	SMART
CA	280	363	5.68e-24	SMART
CA	395	482	1.84e-23	SMART
CA	506	588	2.99e-32	SMART
CA	612	691	9.36e-25	SMART
CA	717	798	9.9e-15	SMART
transmembrane domain	830	852	N/A	INTRINSIC
low complexity region	876	903	N/A	INTRINSIC
low complexity region	951	964	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160721
AA Change: K257*

SMART Domains

Protein: ENSMUSP00000124732
Gene: ENSMUSG00000051375
AA Change: K257*

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Cadherin_2	36	120	9.9e-10	PFAM
CA	168	256	5.18e-18	SMART
low complexity region	310	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161701
AA Change: K118*

SMART Domains

Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: K118*

Domain	Start	End	E-Value	Type
CA	29	117	5.18e-18	SMART
CA	141	224	5.68e-24	SMART
CA	256	343	1.84e-23	SMART
CA	367	449	2.99e-32	SMART
CA	473	552	9.36e-25	SMART
CA	578	659	9.9e-15	SMART
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	737	764	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	903	914	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC
low complexity region	1059	1071	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193828

SMART Domains

Protein: ENSMUSP00000142328
Gene: ENSMUSG00000051375

Domain	Start	End	E-Value	Type
low complexity region	18	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194312

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef1	A	G	1: 10,243,462 (GRCm39)	V1029A	probably damaging	Het
Arhgap9	T	C	10: 127,163,762 (GRCm39)		probably benign	Het
Ccdc63	T	C	5: 122,262,982 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Ctps1	A	G	4: 120,424,545 (GRCm39)	V23A	probably benign	Het
Ehd4	T	C	2: 119,927,535 (GRCm39)	E333G	possibly damaging	Het
Espl1	T	C	15: 102,207,064 (GRCm39)	V176A	probably benign	Het
Fbxo41	A	G	6: 85,455,552 (GRCm39)	I544T	probably damaging	Het
Fut9	A	G	4: 25,620,316 (GRCm39)	V166A	possibly damaging	Het
Kirrel3	A	G	9: 34,926,549 (GRCm39)		probably null	Het
Nell2	T	A	15: 95,281,608 (GRCm39)	D366V	possibly damaging	Het
Neurod4	A	T	10: 130,106,683 (GRCm39)	I197N	probably damaging	Het
Nlrp9c	A	T	7: 26,093,481 (GRCm39)	Y61*	probably null	Het
Or4c121	T	G	2: 89,023,848 (GRCm39)	M177L	probably benign	Het
Phf12	T	A	11: 77,874,166 (GRCm39)	I10N	probably damaging	Het
Ptprc	A	T	1: 138,041,380 (GRCm39)	C250S	probably damaging	Het
Rtl8c	A	G	X: 52,610,187 (GRCm39)	T59A	possibly damaging	Het
Serpine1	A	G	5: 137,092,376 (GRCm39)	I377T	probably benign	Het
Shank2	A	T	7: 143,965,008 (GRCm39)	D865V	probably damaging	Het
Ski	A	T	4: 155,306,799 (GRCm39)	V60E	possibly damaging	Het
St7l	T	A	3: 104,833,782 (GRCm39)	L481H	probably damaging	Het
Tmpo	A	G	10: 90,998,662 (GRCm39)	I375T	probably damaging	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het

Other mutations in Pcdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Pcdh1	APN	18	38,331,782 (GRCm39)	missense	possibly damaging	0.65
IGL01744:Pcdh1	APN	18	38,336,302 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Pcdh1	UTSW	18	38,336,419 (GRCm39)	missense	probably damaging	0.99
R0542:Pcdh1	UTSW	18	38,322,975 (GRCm39)	missense	probably damaging	0.99
R1449:Pcdh1	UTSW	18	38,322,929 (GRCm39)	missense	probably damaging	0.99
R1540:Pcdh1	UTSW	18	38,322,779 (GRCm39)	missense	probably benign	0.01
R1642:Pcdh1	UTSW	18	38,332,283 (GRCm39)	missense	possibly damaging	0.84
R1672:Pcdh1	UTSW	18	38,325,233 (GRCm39)	missense	probably damaging	1.00
R1695:Pcdh1	UTSW	18	38,335,921 (GRCm39)	missense	probably damaging	1.00
R1727:Pcdh1	UTSW	18	38,336,085 (GRCm39)	nonsense	probably null
R1781:Pcdh1	UTSW	18	38,322,977 (GRCm39)	missense	probably damaging	1.00
R1793:Pcdh1	UTSW	18	38,331,938 (GRCm39)	missense	probably damaging	0.99
R1839:Pcdh1	UTSW	18	38,332,538 (GRCm39)	missense	possibly damaging	0.82
R1843:Pcdh1	UTSW	18	38,325,278 (GRCm39)	splice site	probably null
R1882:Pcdh1	UTSW	18	38,335,895 (GRCm39)	missense	possibly damaging	0.49
R2261:Pcdh1	UTSW	18	38,331,710 (GRCm39)	missense	probably benign	0.01
R2262:Pcdh1	UTSW	18	38,331,710 (GRCm39)	missense	probably benign	0.01
R2263:Pcdh1	UTSW	18	38,331,710 (GRCm39)	missense	probably benign	0.01
R2511:Pcdh1	UTSW	18	38,332,532 (GRCm39)	missense	possibly damaging	0.95
R2937:Pcdh1	UTSW	18	38,322,815 (GRCm39)	missense	probably benign	0.40
R3941:Pcdh1	UTSW	18	38,332,511 (GRCm39)	missense	probably benign	0.02
R3942:Pcdh1	UTSW	18	38,332,511 (GRCm39)	missense	probably benign	0.02
R4057:Pcdh1	UTSW	18	38,331,950 (GRCm39)	missense	probably damaging	0.98
R4155:Pcdh1	UTSW	18	38,336,159 (GRCm39)	missense	probably damaging	0.99
R4169:Pcdh1	UTSW	18	38,331,358 (GRCm39)	missense	probably damaging	1.00
R4617:Pcdh1	UTSW	18	38,330,913 (GRCm39)	missense	probably benign	0.00
R4690:Pcdh1	UTSW	18	38,336,528 (GRCm39)	missense	probably benign	0.33
R4825:Pcdh1	UTSW	18	38,322,912 (GRCm39)	missense	possibly damaging	0.77
R5201:Pcdh1	UTSW	18	38,331,971 (GRCm39)	missense	probably damaging	0.98
R5266:Pcdh1	UTSW	18	38,325,252 (GRCm39)	missense	probably damaging	1.00
R5267:Pcdh1	UTSW	18	38,325,252 (GRCm39)	missense	probably damaging	1.00
R5351:Pcdh1	UTSW	18	38,330,819 (GRCm39)	missense	probably damaging	1.00
R5568:Pcdh1	UTSW	18	38,330,420 (GRCm39)	missense	probably damaging	1.00
R5729:Pcdh1	UTSW	18	38,335,999 (GRCm39)	missense	probably damaging	1.00
R5731:Pcdh1	UTSW	18	38,331,651 (GRCm39)	missense	probably damaging	1.00
R6043:Pcdh1	UTSW	18	38,336,327 (GRCm39)	missense	probably damaging	0.97
R6278:Pcdh1	UTSW	18	38,332,263 (GRCm39)	missense	probably benign	0.29
R6333:Pcdh1	UTSW	18	38,331,860 (GRCm39)	missense	probably benign	0.25
R6498:Pcdh1	UTSW	18	38,330,490 (GRCm39)	missense	probably benign	0.18
R6937:Pcdh1	UTSW	18	38,336,528 (GRCm39)	missense	possibly damaging	0.86
R6994:Pcdh1	UTSW	18	38,331,553 (GRCm39)	missense	probably damaging	1.00
R7242:Pcdh1	UTSW	18	38,336,270 (GRCm39)	missense	probably benign	0.06
R7289:Pcdh1	UTSW	18	38,322,966 (GRCm39)	missense	probably damaging	0.99
R7391:Pcdh1	UTSW	18	38,335,838 (GRCm39)	missense	possibly damaging	0.95
R7702:Pcdh1	UTSW	18	38,336,569 (GRCm39)	missense	unknown
R7738:Pcdh1	UTSW	18	38,330,529 (GRCm39)	missense	probably benign	0.02
R7849:Pcdh1	UTSW	18	38,322,662 (GRCm39)	missense	probably benign	0.01
R7941:Pcdh1	UTSW	18	38,332,133 (GRCm39)	missense	probably damaging	1.00
R8109:Pcdh1	UTSW	18	38,332,049 (GRCm39)	missense	probably damaging	1.00
R8675:Pcdh1	UTSW	18	38,332,229 (GRCm39)	missense	probably damaging	1.00
R8851:Pcdh1	UTSW	18	38,325,155 (GRCm39)	missense	probably damaging	1.00
R8947:Pcdh1	UTSW	18	38,332,073 (GRCm39)	missense	possibly damaging	0.89
R9443:Pcdh1	UTSW	18	38,330,633 (GRCm39)	missense	probably damaging	1.00
R9448:Pcdh1	UTSW	18	38,330,492 (GRCm39)	missense	probably damaging	1.00
R9608:Pcdh1	UTSW	18	38,330,904 (GRCm39)	missense	possibly damaging	0.91
X0027:Pcdh1	UTSW	18	38,322,841 (GRCm39)	nonsense	probably null
Z1088:Pcdh1	UTSW	18	38,331,120 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcdh1	UTSW	18	38,331,741 (GRCm39)	missense	possibly damaging	0.79

Posted On

2013-04-17