Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01115:Pcdh10'

50757

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 #

IGL01115

Quality Score

Status

Chromosome

Chromosomal Location

45332833-45389014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45347210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1002 (T1002A)

Ref Sequence

ENSEMBL: ENSMUSP00000131600 (fasta)

Gene Model

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

AlphaFold

E9PXQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000166126
AA Change: T1002A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: T1002A

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: T1002A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: T1002A

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: T1002A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: T1002A

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: 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,352 (GRCm39)	T934A	probably benign	Het
Ankzf1	T	C	1: 75,169,259 (GRCm39)	L55P	probably damaging	Het
Aoc1	T	C	6: 48,883,131 (GRCm39)	S336P	probably damaging	Het
Bmper	T	C	9: 23,310,985 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,654,122 (GRCm39)	N58S	probably damaging	Het
Cdca2	A	G	14: 67,952,146 (GRCm39)	V75A	probably damaging	Het
Chmp7	A	G	14: 69,958,772 (GRCm39)	S181P	probably damaging	Het
Colq	A	G	14: 31,267,085 (GRCm39)		probably benign	Het
Dennd5b	A	G	6: 148,911,246 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,605,320 (GRCm39)	T509A	probably benign	Het
Hsh2d	T	C	8: 72,954,463 (GRCm39)	S282P	probably damaging	Het
Impg2	C	T	16: 56,079,803 (GRCm39)	P536S	possibly damaging	Het
Naip1	T	A	13: 100,580,228 (GRCm39)		probably null	Het
Napb	T	C	2: 148,549,089 (GRCm39)	Y111C	probably damaging	Het
Or8w1	T	C	2: 87,465,728 (GRCm39)	D121G	probably damaging	Het
Osmr	A	G	15: 6,876,682 (GRCm39)		probably benign	Het
Plcg2	T	C	8: 118,284,068 (GRCm39)	W122R	probably damaging	Het
Prpf19	C	T	19: 10,877,567 (GRCm39)	T204M	probably damaging	Het
Ptbp1	T	A	10: 79,695,796 (GRCm39)		probably benign	Het
Ptpre	T	A	7: 135,272,493 (GRCm39)	D402E	probably damaging	Het
Siglec1	T	C	2: 130,916,422 (GRCm39)	N1176S	probably benign	Het
Son	A	G	16: 91,456,346 (GRCm39)	T1698A	probably benign	Het
Spata6l	T	C	19: 28,921,842 (GRCm39)		probably null	Het
Speer2	C	T	16: 69,658,539 (GRCm39)	W42*	probably null	Het
Taf5	T	C	19: 47,063,521 (GRCm39)	V357A	probably benign	Het
Tctn1	A	G	5: 122,402,270 (GRCm39)	S55P	probably benign	Het
Tmem115	T	A	9: 107,411,781 (GRCm39)	L35Q	probably damaging	Het
Tmem30c	T	A	16: 57,096,480 (GRCm39)		probably benign	Het
Tmprss7	T	C	16: 45,481,152 (GRCm39)	D678G	probably damaging	Het
Ugt1a7c	A	T	1: 88,022,967 (GRCm39)	Q42L	probably damaging	Het
Unc13b	T	A	4: 43,258,492 (GRCm39)	V4099E	probably damaging	Het
Usp36	G	A	11: 118,176,786 (GRCm39)	L11F	probably damaging	Het
Zfp955a	T	A	17: 33,461,554 (GRCm39)	K193*	probably null	Het
Zranb2	T	C	3: 157,252,328 (GRCm39)		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
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

2013-06-21