Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01600:Pcdh10'

92142

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 #

IGL01600

Quality Score

Status

Chromosome

Chromosomal Location

45332833-45389014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45333922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 79 (I79L)

Ref Sequence

ENSEMBL: ENSMUSP00000131600 (fasta)

Gene Model

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

AlphaFold

E9PXQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000166126
AA Change: I79L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: I79L

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	C	A	8: 22,517,541 (GRCm39)		probably null	Het
Ccr7	A	G	11: 99,035,971 (GRCm39)	V317A	probably benign	Het
Dna2	T	A	10: 62,786,585 (GRCm39)	I111K	probably damaging	Het
Egflam	A	G	15: 7,249,245 (GRCm39)	S858P	probably damaging	Het
Glt28d2	T	C	3: 85,779,290 (GRCm39)	Y61C	probably damaging	Het
Kbtbd12	C	T	6: 88,595,540 (GRCm39)	A97T	probably benign	Het
Myh4	A	G	11: 67,151,015 (GRCm39)	E1890G	possibly damaging	Het
Notch3	C	A	17: 32,363,472 (GRCm39)	G1197V	probably damaging	Het
Or4c10b	A	T	2: 89,712,006 (GRCm39)	M279L	probably benign	Het
Runx1t1	T	A	4: 13,841,871 (GRCm39)	V181D	probably damaging	Het
Snx25	A	T	8: 46,569,347 (GRCm39)	D183E	probably benign	Het
Srsf11	G	A	3: 157,725,079 (GRCm39)		probably benign	Het
Tox	A	G	4: 6,697,585 (GRCm39)	V406A	probably damaging	Het
Vmn2r68	T	A	7: 84,871,468 (GRCm39)	H605L	probably benign	Het

Other mutations in Pcdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Pcdh10	APN	3	45,334,737 (GRCm39)	missense	probably damaging	1.00
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
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

2013-12-09