Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Pcdh10'

578545

Institutional Source

Beutler Lab

Gene Symbol

Pcdh10

Ensembl Gene

ENSMUSG00000049100

Gene Name

protocadherin 10

Synonyms

6430521D13Rik, OL-pc, 6430703F07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R7463 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

45378398-45435623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45383572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 891 (R891S)

Ref Sequence

ENSEMBL: ENSMUSP00000131073 (fasta)

Gene Model

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

AlphaFold

E9PXQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166126
AA Change: R891S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: R891S

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: R891S

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: R891S

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: R891S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: R891S

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 benign
Transcript: ENSMUST00000193252

SMART Domains

Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100

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

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Pcdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Pcdh10	APN	3	45380302	missense	probably damaging	1.00
IGL01115:Pcdh10	APN	3	45392775	missense	probably damaging	1.00
IGL01535:Pcdh10	APN	3	45379643	missense	probably damaging	1.00
IGL01600:Pcdh10	APN	3	45379487	missense	probably damaging	0.98
IGL01625:Pcdh10	APN	3	45379397	missense	probably damaging	0.99
IGL01966:Pcdh10	APN	3	45380298	missense	probably benign	0.05
IGL02232:Pcdh10	APN	3	45380942	missense	probably benign	0.00
IGL02490:Pcdh10	APN	3	45380487	missense	probably damaging	1.00
IGL02890:Pcdh10	APN	3	45392617	missense	probably damaging	1.00
IGL02976:Pcdh10	APN	3	45380013	missense	possibly damaging	0.92
IGL02997:Pcdh10	APN	3	45379362	missense	probably damaging	1.00
IGL03006:Pcdh10	APN	3	45379502	missense	probably damaging	0.99
IGL03385:Pcdh10	APN	3	45381512	missense	possibly damaging	0.77
R0025:Pcdh10	UTSW	3	45380499	missense	possibly damaging	0.93
R0157:Pcdh10	UTSW	3	45379701	missense	probably damaging	1.00
R0372:Pcdh10	UTSW	3	45379497	missense	probably damaging	1.00
R0652:Pcdh10	UTSW	3	45379764	missense	probably damaging	1.00
R0760:Pcdh10	UTSW	3	45380570	missense	probably benign	0.19
R0976:Pcdh10	UTSW	3	45380801	missense	probably damaging	1.00
R1307:Pcdh10	UTSW	3	45381879	missense	probably benign	0.00
R1466:Pcdh10	UTSW	3	45379974	missense	probably damaging	1.00
R1466:Pcdh10	UTSW	3	45379974	missense	probably damaging	1.00
R1510:Pcdh10	UTSW	3	45379403	missense	probably damaging	1.00
R1619:Pcdh10	UTSW	3	45380312	missense	possibly damaging	0.94
R1678:Pcdh10	UTSW	3	45381881	nonsense	probably null
R1687:Pcdh10	UTSW	3	45380015	missense	probably damaging	1.00
R1750:Pcdh10	UTSW	3	45381881	nonsense	probably null
R1751:Pcdh10	UTSW	3	45384177	missense	probably damaging	1.00
R1767:Pcdh10	UTSW	3	45384177	missense	probably damaging	1.00
R1857:Pcdh10	UTSW	3	45379937	missense	possibly damaging	0.86
R2086:Pcdh10	UTSW	3	45380471	missense	probably damaging	0.98
R3960:Pcdh10	UTSW	3	45379314	missense	probably benign
R4083:Pcdh10	UTSW	3	45392707	missense	probably damaging	1.00
R4084:Pcdh10	UTSW	3	45392707	missense	probably damaging	1.00
R4112:Pcdh10	UTSW	3	45381620	missense	probably damaging	1.00
R4754:Pcdh10	UTSW	3	45380637	missense	probably damaging	0.99
R4946:Pcdh10	UTSW	3	45379482	missense	probably damaging	1.00
R5039:Pcdh10	UTSW	3	45381861	missense	probably damaging	1.00
R5224:Pcdh10	UTSW	3	45392814	missense	probably damaging	0.99
R5233:Pcdh10	UTSW	3	45384191	missense	probably damaging	1.00
R5261:Pcdh10	UTSW	3	45381812	missense	probably damaging	1.00
R5429:Pcdh10	UTSW	3	45384200	missense	probably benign	0.00
R5488:Pcdh10	UTSW	3	45381368	missense	probably damaging	1.00
R5558:Pcdh10	UTSW	3	45384168	missense	probably damaging	1.00
R5784:Pcdh10	UTSW	3	45380640	missense	probably damaging	1.00
R5815:Pcdh10	UTSW	3	45392721	missense	probably benign	0.04
R6283:Pcdh10	UTSW	3	45381554	missense	possibly damaging	0.46
R6396:Pcdh10	UTSW	3	45380060	missense	possibly damaging	0.46
R6703:Pcdh10	UTSW	3	45381299	missense	possibly damaging	0.87
R6756:Pcdh10	UTSW	3	45380106	missense	possibly damaging	0.80
R6968:Pcdh10	UTSW	3	45379542	missense	probably damaging	1.00
R7574:Pcdh10	UTSW	3	45381375	missense	possibly damaging	0.92
R7691:Pcdh10	UTSW	3	45381197	missense	probably damaging	1.00
R7795:Pcdh10	UTSW	3	45380222	missense	probably benign	0.09
R8057:Pcdh10	UTSW	3	45379259	missense	probably benign	0.00
R8082:Pcdh10	UTSW	3	45381744	missense	probably damaging	1.00
R8302:Pcdh10	UTSW	3	45381498	missense	probably damaging	0.99
R8411:Pcdh10	UTSW	3	45379539	missense	probably damaging	1.00
R8555:Pcdh10	UTSW	3	45379595	missense	probably benign	0.41
R8765:Pcdh10	UTSW	3	45379488	missense	probably damaging	1.00
R8940:Pcdh10	UTSW	3	45384185	missense	possibly damaging	0.83
R9146:Pcdh10	UTSW	3	45379916	missense	probably benign	0.08
R9306:Pcdh10	UTSW	3	45381369	missense	probably benign	0.30
R9330:Pcdh10	UTSW	3	45381183	missense	probably damaging	0.96
R9714:Pcdh10	UTSW	3	45381575	missense	probably damaging	0.98
X0013:Pcdh10	UTSW	3	45379566	missense	probably damaging	1.00
Z1177:Pcdh10	UTSW	3	45381729	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCTGTGACCCTATGAAAACC -3'
(R):5'- TCAGTGTGAATAAGTCATAGAAGCTGG -3'

Sequencing Primer
(F):5'- TGACCCTATGAAAACCTTAAAATTCC -3'
(R):5'- TGAATAAGTCATAGAAGCTGGAAAAG -3'

Posted On

2019-10-07