Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00863:Pcdh10'

12924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh10

Ensembl Gene

ENSMUSG00000049100

Gene Name

protocadherin 10

Synonyms

Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

IGL00863

Quality Score

Status

Chromosome

Chromosomal Location

45332833-45389014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45334737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 350 (D350E)

Ref Sequence

ENSEMBL: ENSMUSP00000141529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166126] [ENSMUST00000170695] [ENSMUST00000171554] [ENSMUST00000193252]

AlphaFold

E9PXQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000166126
AA Change: D350E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: D350E

Domain	Start	End	E-Value	Type
CA	34	120	1.64e-2	SMART
CA	144	248	1.46e-12	SMART
CA	272	356	2.88e-25	SMART
CA	380	461	1.9e-25	SMART
CA	485	572	1.8e-26	SMART
CA	603	686	8.29e-17	SMART
low complexity region	687	697	N/A	INTRINSIC
Pfam:Cadherin_C_2	713	838	5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170695
AA Change: D350E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: D350E

Domain	Start	End	E-Value	Type
CA	34	120	1.64e-2	SMART
CA	144	248	1.46e-12	SMART
CA	272	356	2.88e-25	SMART
CA	380	461	1.9e-25	SMART
CA	485	572	1.8e-26	SMART
CA	603	686	8.29e-17	SMART
low complexity region	687	697	N/A	INTRINSIC
transmembrane domain	716	738	N/A	INTRINSIC
low complexity region	751	772	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171554
AA Change: D350E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: D350E

Domain	Start	End	E-Value	Type
CA	34	120	1.64e-2	SMART
CA	144	248	1.46e-12	SMART
CA	272	356	2.88e-25	SMART
CA	380	461	1.9e-25	SMART
CA	485	572	1.8e-26	SMART
CA	603	686	8.29e-17	SMART
low complexity region	687	697	N/A	INTRINSIC
transmembrane domain	716	738	N/A	INTRINSIC
low complexity region	751	772	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191843

Predicted Effect

probably damaging
Transcript: ENSMUST00000193252
AA Change: D350E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: D350E

Domain	Start	End	E-Value	Type
CA	34	120	1.64e-2	SMART
CA	144	248	1.46e-12	SMART
CA	272	356	2.88e-25	SMART
CA	380	461	1.9e-25	SMART
CA	485	572	1.8e-26	SMART
CA	603	686	8.29e-17	SMART
low complexity region	687	697	N/A	INTRINSIC
transmembrane domain	716	738	N/A	INTRINSIC
low complexity region	751	772	N/A	INTRINSIC
low complexity region	887	896	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195655

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 gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsn	A	G	9: 107,992,521 (GRCm39)	I1077T	probably damaging	Het
Car8	A	G	4: 8,183,251 (GRCm39)		probably null	Het
Ccdc192	A	T	18: 57,727,158 (GRCm39)	E136V	probably damaging	Het
Ccny	A	T	18: 9,345,444 (GRCm39)	D143E	probably benign	Het
Cdh19	A	G	1: 110,876,874 (GRCm39)	V155A	probably damaging	Het
Cript	T	A	17: 87,335,151 (GRCm39)	I14N	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyria	A	T	12: 12,409,235 (GRCm39)	I72F	probably benign	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fbln5	A	G	12: 101,776,175 (GRCm39)	V60A	probably damaging	Het
Fbn1	T	A	2: 125,245,139 (GRCm39)	E249D	possibly damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Grik2	A	G	10: 49,232,024 (GRCm39)	V502A	possibly damaging	Het
Heatr1	T	C	13: 12,450,009 (GRCm39)	V2001A	probably benign	Het
Il4i1	T	A	7: 44,487,470 (GRCm39)	Y148*	probably null	Het
Jmjd4	T	C	11: 59,341,569 (GRCm39)	S113P	probably benign	Het
Nceh1	C	T	3: 27,295,462 (GRCm39)	P241L	probably damaging	Het
Pals1	A	G	12: 78,856,595 (GRCm39)	D146G	probably damaging	Het
Pdgfrl	A	G	8: 41,438,571 (GRCm39)	E169G	probably damaging	Het
Ppm1l	T	A	3: 69,225,283 (GRCm39)	D128E	probably damaging	Het
Rasa1	A	G	13: 85,436,548 (GRCm39)	V160A	probably benign	Het
Serf2	T	C	2: 121,288,184 (GRCm39)		probably null	Het
Slitrk1	T	A	14: 109,149,269 (GRCm39)	N481Y	probably damaging	Het
Tas2r139	T	G	6: 42,118,055 (GRCm39)	S62R	probably damaging	Het
Tdpoz4	A	T	3: 93,704,380 (GRCm39)	T226S	probably benign	Het
Tvp23b	C	A	11: 62,774,464 (GRCm39)	A36E	probably damaging	Het
Upp2	G	A	2: 58,680,076 (GRCm39)	E301K	probably benign	Het

Other mutations in Pcdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Pcdh10	APN	3	45,347,210 (GRCm39)	missense	probably damaging	1.00
IGL01535:Pcdh10	APN	3	45,334,078 (GRCm39)	missense	probably damaging	1.00
IGL01600:Pcdh10	APN	3	45,333,922 (GRCm39)	missense	probably damaging	0.98
IGL01625:Pcdh10	APN	3	45,333,832 (GRCm39)	missense	probably damaging	0.99
IGL01966:Pcdh10	APN	3	45,334,733 (GRCm39)	missense	probably benign	0.05
IGL02232:Pcdh10	APN	3	45,335,377 (GRCm39)	missense	probably benign	0.00
IGL02490:Pcdh10	APN	3	45,334,922 (GRCm39)	missense	probably damaging	1.00
IGL02890:Pcdh10	APN	3	45,347,052 (GRCm39)	missense	probably damaging	1.00
IGL02976:Pcdh10	APN	3	45,334,448 (GRCm39)	missense	possibly damaging	0.92
IGL02997:Pcdh10	APN	3	45,333,797 (GRCm39)	missense	probably damaging	1.00
IGL03006:Pcdh10	APN	3	45,333,937 (GRCm39)	missense	probably damaging	0.99
IGL03385:Pcdh10	APN	3	45,335,947 (GRCm39)	missense	possibly damaging	0.77
R0025:Pcdh10	UTSW	3	45,334,934 (GRCm39)	missense	possibly damaging	0.93
R0157:Pcdh10	UTSW	3	45,334,136 (GRCm39)	missense	probably damaging	1.00
R0372:Pcdh10	UTSW	3	45,333,932 (GRCm39)	missense	probably damaging	1.00
R0652:Pcdh10	UTSW	3	45,334,199 (GRCm39)	missense	probably damaging	1.00
R0760:Pcdh10	UTSW	3	45,335,005 (GRCm39)	missense	probably benign	0.19
R0976:Pcdh10	UTSW	3	45,335,236 (GRCm39)	missense	probably damaging	1.00
R1307:Pcdh10	UTSW	3	45,336,314 (GRCm39)	missense	probably benign	0.00
R1466:Pcdh10	UTSW	3	45,334,409 (GRCm39)	missense	probably damaging	1.00
R1466:Pcdh10	UTSW	3	45,334,409 (GRCm39)	missense	probably damaging	1.00
R1510:Pcdh10	UTSW	3	45,333,838 (GRCm39)	missense	probably damaging	1.00
R1619:Pcdh10	UTSW	3	45,334,747 (GRCm39)	missense	possibly damaging	0.94
R1678:Pcdh10	UTSW	3	45,336,316 (GRCm39)	nonsense	probably null
R1687:Pcdh10	UTSW	3	45,334,450 (GRCm39)	missense	probably damaging	1.00
R1750:Pcdh10	UTSW	3	45,336,316 (GRCm39)	nonsense	probably null
R1751:Pcdh10	UTSW	3	45,338,612 (GRCm39)	missense	probably damaging	1.00
R1767:Pcdh10	UTSW	3	45,338,612 (GRCm39)	missense	probably damaging	1.00
R1857:Pcdh10	UTSW	3	45,334,372 (GRCm39)	missense	possibly damaging	0.86
R2086:Pcdh10	UTSW	3	45,334,906 (GRCm39)	missense	probably damaging	0.98
R3960:Pcdh10	UTSW	3	45,333,749 (GRCm39)	missense	probably benign
R4083:Pcdh10	UTSW	3	45,347,142 (GRCm39)	missense	probably damaging	1.00
R4084:Pcdh10	UTSW	3	45,347,142 (GRCm39)	missense	probably damaging	1.00
R4112:Pcdh10	UTSW	3	45,336,055 (GRCm39)	missense	probably damaging	1.00
R4754:Pcdh10	UTSW	3	45,335,072 (GRCm39)	missense	probably damaging	0.99
R4946:Pcdh10	UTSW	3	45,333,917 (GRCm39)	missense	probably damaging	1.00
R5039:Pcdh10	UTSW	3	45,336,296 (GRCm39)	missense	probably damaging	1.00
R5224:Pcdh10	UTSW	3	45,347,249 (GRCm39)	missense	probably damaging	0.99
R5233:Pcdh10	UTSW	3	45,338,626 (GRCm39)	missense	probably damaging	1.00
R5261:Pcdh10	UTSW	3	45,336,247 (GRCm39)	missense	probably damaging	1.00
R5429:Pcdh10	UTSW	3	45,338,635 (GRCm39)	missense	probably benign	0.00
R5488:Pcdh10	UTSW	3	45,335,803 (GRCm39)	missense	probably damaging	1.00
R5558:Pcdh10	UTSW	3	45,338,603 (GRCm39)	missense	probably damaging	1.00
R5784:Pcdh10	UTSW	3	45,335,075 (GRCm39)	missense	probably damaging	1.00
R5815:Pcdh10	UTSW	3	45,347,156 (GRCm39)	missense	probably benign	0.04
R6283:Pcdh10	UTSW	3	45,335,989 (GRCm39)	missense	possibly damaging	0.46
R6396:Pcdh10	UTSW	3	45,334,495 (GRCm39)	missense	possibly damaging	0.46
R6703:Pcdh10	UTSW	3	45,335,734 (GRCm39)	missense	possibly damaging	0.87
R6756:Pcdh10	UTSW	3	45,334,541 (GRCm39)	missense	possibly damaging	0.80
R6968:Pcdh10	UTSW	3	45,333,977 (GRCm39)	missense	probably damaging	1.00
R7463:Pcdh10	UTSW	3	45,338,007 (GRCm39)	missense	possibly damaging	0.59
R7574:Pcdh10	UTSW	3	45,335,810 (GRCm39)	missense	possibly damaging	0.92
R7691:Pcdh10	UTSW	3	45,335,632 (GRCm39)	missense	probably damaging	1.00
R7795:Pcdh10	UTSW	3	45,334,657 (GRCm39)	missense	probably benign	0.09
R8057:Pcdh10	UTSW	3	45,333,694 (GRCm39)	missense	probably benign	0.00
R8082:Pcdh10	UTSW	3	45,336,179 (GRCm39)	missense	probably damaging	1.00
R8302:Pcdh10	UTSW	3	45,335,933 (GRCm39)	missense	probably damaging	0.99
R8411:Pcdh10	UTSW	3	45,333,974 (GRCm39)	missense	probably damaging	1.00
R8555:Pcdh10	UTSW	3	45,334,030 (GRCm39)	missense	probably benign	0.41
R8765:Pcdh10	UTSW	3	45,333,923 (GRCm39)	missense	probably damaging	1.00
R8940:Pcdh10	UTSW	3	45,338,620 (GRCm39)	missense	possibly damaging	0.83
R9146:Pcdh10	UTSW	3	45,334,351 (GRCm39)	missense	probably benign	0.08
R9306:Pcdh10	UTSW	3	45,335,804 (GRCm39)	missense	probably benign	0.30
R9330:Pcdh10	UTSW	3	45,335,618 (GRCm39)	missense	probably damaging	0.96
R9714:Pcdh10	UTSW	3	45,336,010 (GRCm39)	missense	probably damaging	0.98
X0013:Pcdh10	UTSW	3	45,334,001 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdh10	UTSW	3	45,336,164 (GRCm39)	missense	probably benign	0.06

Posted On

2012-12-06