Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03385:Pcdh10'

420846

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 #

IGL03385

Quality Score

Status

Chromosome

Chromosomal Location

45332833-45389014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45335947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 754 (S754R)

Ref Sequence

ENSEMBL: ENSMUSP00000141529 (fasta)

Gene Model

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

AlphaFold

E9PXQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166126
AA Change: S754R

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: S754R

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 benign
Transcript: ENSMUST00000170695
AA Change: S754R

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: S754R

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

possibly damaging
Transcript: ENSMUST00000171554
AA Change: S754R

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: S754R

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

possibly damaging
Transcript: ENSMUST00000193252
AA Change: S754R

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: S754R

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs9	A	G	9: 22,555,044 (GRCm39)	T444A	probably benign	Het
Cdh20	A	G	1: 109,993,516 (GRCm39)	T324A	possibly damaging	Het
Col14a1	C	A	15: 55,273,600 (GRCm39)	T723K	unknown	Het
Col14a1	G	A	15: 55,335,104 (GRCm39)	G1513S	unknown	Het
Col1a2	C	A	6: 4,539,612 (GRCm39)	N1293K	unknown	Het
Ctdp1	T	C	18: 80,493,133 (GRCm39)	D454G	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	A	G	5: 92,216,254 (GRCm39)	V94A	probably damaging	Het
Gm973	A	G	1: 59,621,629 (GRCm39)	S590G	probably benign	Het
Gon4l	A	T	3: 88,814,850 (GRCm39)	T1940S	probably benign	Het
Itk	G	A	11: 46,222,688 (GRCm39)	Q594*	probably null	Het
Kcnc2	G	A	10: 112,291,691 (GRCm39)	C293Y	probably damaging	Het
Krit1	A	G	5: 3,857,452 (GRCm39)	I86V	possibly damaging	Het
Lyst	T	A	13: 13,831,565 (GRCm39)	L1663*	probably null	Het
Moxd2	T	C	6: 40,855,952 (GRCm39)	T546A	probably damaging	Het
Myo7b	G	T	18: 32,122,630 (GRCm39)	Q717K	probably benign	Het
Or2a51	T	C	6: 43,178,914 (GRCm39)	V112A	probably benign	Het
Or2ad1	A	G	13: 21,326,657 (GRCm39)	V190A	probably benign	Het
Ostm1	A	C	10: 42,574,140 (GRCm39)	N123H	probably damaging	Het
Pomt2	A	T	12: 87,163,330 (GRCm39)	L613Q	probably damaging	Het
Samd9l	T	A	6: 3,376,208 (GRCm39)	N351I	probably damaging	Het
Serpinb9	T	C	13: 33,191,979 (GRCm39)		probably benign	Het
Slc12a4	T	A	8: 106,677,496 (GRCm39)		probably benign	Het
Smgc	T	A	15: 91,726,181 (GRCm39)	H42Q	possibly damaging	Het
Tor1a	A	G	2: 30,853,739 (GRCm39)	V197A	possibly damaging	Het
Ttc4	A	G	4: 106,525,397 (GRCm39)	S246P	probably benign	Het
Tti1	G	A	2: 157,834,945 (GRCm39)	A1005V	possibly damaging	Het
Ugt3a1	A	T	15: 9,338,824 (GRCm39)	I63F	probably damaging	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
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
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

2016-08-02