Mutagenetix > Incidental Mutation

Incidental Mutation 'R4083:Pcdh10'

316972

Institutional Source

Beutler Lab

Gene Symbol

Pcdh10

Ensembl Gene

ENSMUSG00000049100

Gene Name

protocadherin 10

Synonyms

Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik

MMRRC Submission

040978-MU

Accession Numbers

Essential gene?

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

Stock #

R4083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45332833-45389014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45347142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 979 (D979A)

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: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: D979A

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: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: D979A

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: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: D979A

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

Meta Mutation Damage Score

0.0975

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (31/32)

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
Asah2	A	G	19: 31,964,184 (GRCm39)	S749P	probably benign	Het
Ccdc159	T	C	9: 21,840,699 (GRCm39)	S89P	possibly damaging	Het
Cnbd1	A	T	4: 18,886,042 (GRCm39)	S326T	possibly damaging	Het
Dpy19l1	G	A	9: 24,396,344 (GRCm39)	T124M	possibly damaging	Het
Fmod	A	T	1: 133,968,043 (GRCm39)	I28F	probably benign	Het
Gm8674	A	T	13: 50,055,047 (GRCm39)		noncoding transcript	Het
Grm3	T	G	5: 9,562,054 (GRCm39)	I599L	probably benign	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Hsd17b11	A	T	5: 104,138,434 (GRCm39)	V280D	possibly damaging	Het
Igkv8-26	G	T	6: 70,170,547 (GRCm39)	S46I	probably damaging	Het
Kdm7a	T	C	6: 39,129,748 (GRCm39)	E476G	probably damaging	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,681,320 (GRCm39)	N437K	probably benign	Het
Mterf4	A	C	1: 93,232,380 (GRCm39)	M157R	possibly damaging	Het
Nbas	T	C	12: 13,524,192 (GRCm39)	W1683R	probably damaging	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Or14j10	T	G	17: 37,935,316 (GRCm39)	D70A	probably damaging	Het
Or2ag2	G	T	7: 106,485,851 (GRCm39)	P58T	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab27a	G	T	9: 72,989,721 (GRCm39)	R64L	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a16	T	A	10: 40,450,065 (GRCm39)	L167Q	probably damaging	Het
Srgap1	A	G	10: 121,621,595 (GRCm39)	V989A	probably damaging	Het
Sstr2	T	C	11: 113,516,071 (GRCm39)	V330A	probably benign	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Trav7d-3	C	A	14: 52,982,212 (GRCm39)	H84Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGACCGTCGAATACATCTGG -3'
(R):5'- TATGCAGGCTTCTGTGTGATACTTAC -3'

Sequencing Primer
(F):5'- GACCGTCGAATACATCTGGAGTTC -3'
(R):5'- ACTCAAATATGGTGGTTTGTAAGGC -3'

Posted On

2015-05-15