Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Pcdh10'

652662

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: 0.320) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45378398-45435623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45379539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 96 (E96G)

Ref Sequence

ENSEMBL: ENSMUSP00000131073 (fasta)

Gene Model

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

AlphaFold

E9PXQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000166126
AA Change: E96G

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

SMART Domains

Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: E96G

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: E96G

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

SMART Domains

Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: E96G

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: E96G

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

SMART Domains

Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: E96G

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: ENSMUST00000193252
AA Change: E96G

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

SMART Domains

Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: E96G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	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
R7463:Pcdh10	UTSW	3	45383572	missense	possibly damaging	0.59
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
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'- GAACATGGCACTTTCGTGGG -3'
(R):5'- TTATCTCGTAGTCTCGCAAGGAG -3'

Sequencing Primer
(F):5'- AATATCGCTGAAGACCTGGGC -3'
(R):5'- AGTCTCGCAAGGAGTTGGTC -3'

Posted On

2020-10-20