Mutagenetix > Incidental Mutations

Incidental Mutation 'R0558:Pcdh8'

45759

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

1700080P15Rik, Papc

MMRRC Submission

038750-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0558 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

79766775-79771312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79770076 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 349 (D349G)

Ref Sequence

ENSEMBL: ENSMUSP00000141417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039568] [ENSMUST00000195355]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039568
AA Change: D349G

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

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: D349G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	45	133	8.69e-2	SMART
CA	157	243	1.22e-14	SMART
CA	268	352	6.08e-24	SMART
low complexity region	360	392	N/A	INTRINSIC
CA	414	495	5.34e-20	SMART
CA	519	607	1.57e-26	SMART
CA	636	718	1.12e-4	SMART
transmembrane domain	748	770	N/A	INTRINSIC
low complexity region	782	802	N/A	INTRINSIC
low complexity region	828	860	N/A	INTRINSIC
low complexity region	910	933	N/A	INTRINSIC
low complexity region	974	980	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195034

Predicted Effect

probably damaging
Transcript: ENSMUST00000195355
AA Change: D349G

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

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: D349G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	45	133	8.69e-2	SMART
CA	157	243	1.22e-14	SMART
CA	268	352	6.08e-24	SMART
low complexity region	360	392	N/A	INTRINSIC
CA	414	495	5.34e-20	SMART
CA	519	607	1.57e-26	SMART
CA	636	718	1.12e-4	SMART
transmembrane domain	748	770	N/A	INTRINSIC
low complexity region	813	836	N/A	INTRINSIC
low complexity region	877	883	N/A	INTRINSIC

Meta Mutation Damage Score

0.9381

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	T	C	17: 25,947,549	N338S	probably benign	Het
Abcc2	G	A	19: 43,800,724	G273R	probably benign	Het
Adamts10	T	C	17: 33,550,609	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,673,121	D90G	probably damaging	Het
Atic	T	A	1: 71,563,788	V107E	probably benign	Het
Atp4b	T	C	8: 13,393,523	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,434,808	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,724,387		probably benign	Het
Cd226	T	A	18: 89,207,214	H78Q	probably benign	Het
Cers3	A	G	7: 66,783,418	D161G	probably damaging	Het
Ces1f	T	C	8: 93,275,389	H37R	probably benign	Het
Chek1	T	A	9: 36,712,115	N421I	possibly damaging	Het
Cma2	T	C	14: 55,972,792	Y45H	probably damaging	Het
Cmas	C	A	6: 142,775,244	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,444,634	S492T	probably benign	Het
Dnah12	T	C	14: 26,709,310	S358P	probably benign	Het
Dnajc13	T	C	9: 104,201,952		probably null	Het
Ep400	A	C	5: 110,685,067		probably benign	Het
Fam209	T	A	2: 172,472,838	N82K	probably benign	Het
Fam92a	T	C	4: 12,164,095	D248G	probably damaging	Het
G3bp2	A	T	5: 92,073,197	Y20N	probably damaging	Het
Gli2	T	C	1: 118,837,649	D924G	probably benign	Het
Gm10787	T	C	10: 77,022,016		noncoding transcript	Het
Gm11568	A	G	11: 99,858,046	R26G	unknown	Het
Gm4788	A	G	1: 139,739,492	V376A	probably damaging	Het
Hivep3	T	G	4: 120,096,566	L693R	probably damaging	Het
Hook1	A	G	4: 95,993,212		probably benign	Het
Ibtk	A	C	9: 85,737,538	D116E	probably damaging	Het
Insrr	C	T	3: 87,810,981	T927I	possibly damaging	Het
Irx1	T	G	13: 71,959,628	S312R	probably benign	Het
Itga11	T	C	9: 62,752,288	Y441H	probably benign	Het
Itsn1	A	G	16: 91,899,623	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,669,421	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,436,301	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,760,963		noncoding transcript	Het
Lars	T	G	18: 42,214,837	I974L	probably benign	Het
Limch1	A	G	5: 66,969,155	D42G	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,418,864	I393T	probably benign	Het
Mpl	A	C	4: 118,444,020	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,410,268	S754P	possibly damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1233	A	G	2: 89,340,236	L22P	probably benign	Het
Olfr1350	T	C	7: 6,570,653	Y221H	possibly damaging	Het
Olfr1537	T	A	9: 39,238,200	T75S	probably damaging	Het
P2rx7	A	T	5: 122,673,798	I391F	possibly damaging	Het
Pbrm1	T	A	14: 31,085,059		probably null	Het
Pias1	A	G	9: 62,882,009	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,484,424	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,837,935	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,774,087	S375T	probably benign	Het
Prkar1b	C	T	5: 139,020,092	V313M	probably benign	Het
Ptpn13	T	C	5: 103,529,717	S734P	probably damaging	Het
Rdh1	T	C	10: 127,759,941	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,949,338	I285L	probably benign	Het
Rubcnl	T	C	14: 75,047,547	F502S	probably damaging	Het
Ryr2	T	A	13: 11,638,443	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,799,861	Y675C	probably damaging	Het
Scaper	T	C	9: 55,685,923	T477A	probably benign	Het
Scn2a	G	T	2: 65,711,925	V791L	probably benign	Het
Sdk1	A	T	5: 142,132,065	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,714,415	H483L	probably benign	Het
Sema6c	T	C	3: 95,168,691	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,335,117	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,344,383	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,233,065		probably benign	Het
Slc38a9	A	T	13: 112,729,196		probably null	Het
Taok1	A	C	11: 77,559,844	S367R	possibly damaging	Het
Tlr6	G	A	5: 64,954,860	Q235*	probably null	Het
Top2a	A	G	11: 98,996,839	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,675,782	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,653,462	T288A	probably benign	Het
Ubr4	A	G	4: 139,426,902	E2140G	probably benign	Het
Uso1	A	G	5: 92,174,019	Q257R	probably benign	Het
Zfp106	A	G	2: 120,532,196	V48A	probably damaging	Het
Zfp174	T	A	16: 3,848,254	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,445,055	D426V	probably benign	Het

Other mutations in Pcdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pcdh8	APN	14	79769246	missense	probably damaging	0.99
IGL02611:Pcdh8	APN	14	79767667	missense	probably benign	0.00
R0094:Pcdh8	UTSW	14	79768148	missense	probably damaging	1.00
R0118:Pcdh8	UTSW	14	79767408	missense	probably damaging	1.00
R0681:Pcdh8	UTSW	14	79769960	missense	probably benign
R0718:Pcdh8	UTSW	14	79770691	missense	possibly damaging	0.49
R1281:Pcdh8	UTSW	14	79767726	missense	probably damaging	1.00
R1487:Pcdh8	UTSW	14	79769547	missense	probably damaging	1.00
R1511:Pcdh8	UTSW	14	79769389	missense	possibly damaging	0.46
R1552:Pcdh8	UTSW	14	79770607	missense	probably benign	0.20
R1556:Pcdh8	UTSW	14	79770403	missense	probably damaging	1.00
R1659:Pcdh8	UTSW	14	79768134	missense	probably damaging	1.00
R2062:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2063:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2068:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2920:Pcdh8	UTSW	14	79768714	missense	possibly damaging	0.88
R3970:Pcdh8	UTSW	14	79770266	missense	possibly damaging	0.78
R4113:Pcdh8	UTSW	14	79767513	missense	probably damaging	1.00
R4771:Pcdh8	UTSW	14	79768270	missense	possibly damaging	0.48
R4840:Pcdh8	UTSW	14	79770868	missense	possibly damaging	0.67
R5169:Pcdh8	UTSW	14	79767655	missense	probably benign	0.09
R5187:Pcdh8	UTSW	14	79770154	missense	probably damaging	0.99
R5415:Pcdh8	UTSW	14	79770248	nonsense	probably null
R5548:Pcdh8	UTSW	14	79767502	missense	probably damaging	1.00
R5749:Pcdh8	UTSW	14	79770085	missense	probably damaging	1.00
R5778:Pcdh8	UTSW	14	79770757	missense	probably damaging	1.00
R5795:Pcdh8	UTSW	14	79770980	missense	possibly damaging	0.95
R6313:Pcdh8	UTSW	14	79767651	missense	probably benign	0.02
R7472:Pcdh8	UTSW	14	79771251	splice site	probably null
R7540:Pcdh8	UTSW	14	79771103	missense	probably benign
R7653:Pcdh8	UTSW	14	79767646	missense	probably benign	0.01
R7751:Pcdh8	UTSW	14	79770703	missense	probably damaging	0.96
R7836:Pcdh8	UTSW	14	79768661	missense	possibly damaging	0.73
R8281:Pcdh8	UTSW	14	79769479	missense	probably damaging	0.98
R8365:Pcdh8	UTSW	14	79770986	missense	probably damaging	1.00
R8751:Pcdh8	UTSW	14	79768789	missense	not run
Z1176:Pcdh8	UTSW	14	79769077	missense	probably benign	0.01
Z1177:Pcdh8	UTSW	14	79769881	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGACCAGCGCCACTAGACTCTC -3'
(R):5'- TGTGCTAGATGCCAATGACCACAG -3'

Sequencing Primer
(F):5'- TGATACCGGCTTCCTGTGTC -3'
(R):5'- GACGTTGTGTTCACCTTCG -3'

Posted On

2013-06-11