Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Pcdh8'

168358

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

1700080P15Rik, Papc

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1511 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

79766775-79771312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79769389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 578 (R578H)

Ref Sequence

ENSEMBL: ENSMUSP00000141417 (fasta)

Gene Model

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

AlphaFold

Q7TSK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039568
AA Change: R578H

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: R578H

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

possibly damaging
Transcript: ENSMUST00000195355
AA Change: R578H

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: R578H

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977 (GRCm38)	N576K	probably benign	Het
Abca5	T	A	11: 110,299,986 (GRCm38)	H766L	possibly damaging	Het
Abca5	G	T	11: 110,299,978 (GRCm38)	L769M	probably damaging	Het
Acvr1c	A	G	2: 58,287,884 (GRCm38)	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779 (GRCm38)	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768 (GRCm38)	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746 (GRCm38)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277 (GRCm38)	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185 (GRCm38)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161 (GRCm38)	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097 (GRCm38)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782 (GRCm38)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958 (GRCm38)	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703 (GRCm38)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169 (GRCm38)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558 (GRCm38)	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552 (GRCm38)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788 (GRCm38)		probably benign	Het
Cr2	T	G	1: 195,155,272 (GRCm38)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112 (GRCm38)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250 (GRCm38)		probably benign	Het
Cxcr1	T	C	1: 74,192,770 (GRCm38)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936 (GRCm38)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727 (GRCm38)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278 (GRCm38)	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477 (GRCm38)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374 (GRCm38)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664 (GRCm38)	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281 (GRCm38)	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919 (GRCm38)	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076 (GRCm38)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285 (GRCm38)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469 (GRCm38)		noncoding transcript	Het
Galm	C	A	17: 80,183,267 (GRCm38)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102 (GRCm38)	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383 (GRCm38)	S207T	probably benign	Het
Il33	C	T	19: 29,955,215 (GRCm38)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm38)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324 (GRCm38)		probably null	Het
Kirrel2	A	G	7: 30,456,498 (GRCm38)	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555 (GRCm38)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484 (GRCm38)	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025 (GRCm38)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670 (GRCm38)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278 (GRCm38)	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529 (GRCm38)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664 (GRCm38)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822 (GRCm38)		probably null	Het
Nckap1	T	C	2: 80,553,415 (GRCm38)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170 (GRCm38)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347 (GRCm38)	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937 (GRCm38)	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248 (GRCm38)	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404 (GRCm38)	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025 (GRCm38)	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345 (GRCm38)	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404 (GRCm38)	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125 (GRCm38)	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818 (GRCm38)	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224 (GRCm38)	E791D	probably benign	Het
Phrf1	T	A	7: 141,259,801 (GRCm38)		probably benign	Het
Polr3b	C	A	10: 84,680,385 (GRCm38)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859 (GRCm38)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460 (GRCm38)	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982 (GRCm38)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005 (GRCm38)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130 (GRCm38)	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748 (GRCm38)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634 (GRCm38)	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536 (GRCm38)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050 (GRCm38)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347 (GRCm38)	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000 (GRCm38)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952 (GRCm38)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813 (GRCm38)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734 (GRCm38)		probably null	Het
Sidt2	A	G	9: 45,950,089 (GRCm38)	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364 (GRCm38)	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972 (GRCm38)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878 (GRCm38)	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975 (GRCm38)	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951 (GRCm38)	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452 (GRCm38)	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184 (GRCm38)		probably null	Het
Txk	A	C	5: 72,707,671 (GRCm38)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887 (GRCm38)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301 (GRCm38)		probably null	Het
Ubtfl1	T	G	9: 18,410,193 (GRCm38)	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505 (GRCm38)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653 (GRCm38)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786 (GRCm38)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270 (GRCm38)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496 (GRCm38)	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801 (GRCm38)	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975 (GRCm38)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573 (GRCm38)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675 (GRCm38)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433 (GRCm38)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972 (GRCm38)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771 (GRCm38)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731 (GRCm38)	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256 (GRCm38)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793 (GRCm38)	V430E	probably damaging	Het

Other mutations in Pcdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pcdh8	APN	14	79,769,246 (GRCm38)	missense	probably damaging	0.99
IGL02611:Pcdh8	APN	14	79,767,667 (GRCm38)	missense	probably benign	0.00
R0094:Pcdh8	UTSW	14	79,768,148 (GRCm38)	missense	probably damaging	1.00
R0118:Pcdh8	UTSW	14	79,767,408 (GRCm38)	missense	probably damaging	1.00
R0558:Pcdh8	UTSW	14	79,770,076 (GRCm38)	missense	probably damaging	1.00
R0681:Pcdh8	UTSW	14	79,769,960 (GRCm38)	missense	probably benign
R0718:Pcdh8	UTSW	14	79,770,691 (GRCm38)	missense	possibly damaging	0.49
R1281:Pcdh8	UTSW	14	79,767,726 (GRCm38)	missense	probably damaging	1.00
R1487:Pcdh8	UTSW	14	79,769,547 (GRCm38)	missense	probably damaging	1.00
R1552:Pcdh8	UTSW	14	79,770,607 (GRCm38)	missense	probably benign	0.20
R1556:Pcdh8	UTSW	14	79,770,403 (GRCm38)	missense	probably damaging	1.00
R1659:Pcdh8	UTSW	14	79,768,134 (GRCm38)	missense	probably damaging	1.00
R2062:Pcdh8	UTSW	14	79,768,211 (GRCm38)	missense	probably damaging	1.00
R2063:Pcdh8	UTSW	14	79,768,211 (GRCm38)	missense	probably damaging	1.00
R2068:Pcdh8	UTSW	14	79,768,211 (GRCm38)	missense	probably damaging	1.00
R2920:Pcdh8	UTSW	14	79,768,714 (GRCm38)	missense	possibly damaging	0.88
R3970:Pcdh8	UTSW	14	79,770,266 (GRCm38)	missense	possibly damaging	0.78
R4113:Pcdh8	UTSW	14	79,767,513 (GRCm38)	missense	probably damaging	1.00
R4771:Pcdh8	UTSW	14	79,768,270 (GRCm38)	missense	possibly damaging	0.48
R4840:Pcdh8	UTSW	14	79,770,868 (GRCm38)	missense	possibly damaging	0.67
R5169:Pcdh8	UTSW	14	79,767,655 (GRCm38)	missense	probably benign	0.09
R5187:Pcdh8	UTSW	14	79,770,154 (GRCm38)	missense	probably damaging	0.99
R5415:Pcdh8	UTSW	14	79,770,248 (GRCm38)	nonsense	probably null
R5548:Pcdh8	UTSW	14	79,767,502 (GRCm38)	missense	probably damaging	1.00
R5749:Pcdh8	UTSW	14	79,770,085 (GRCm38)	missense	probably damaging	1.00
R5778:Pcdh8	UTSW	14	79,770,757 (GRCm38)	missense	probably damaging	1.00
R5795:Pcdh8	UTSW	14	79,770,980 (GRCm38)	missense	possibly damaging	0.95
R6313:Pcdh8	UTSW	14	79,767,651 (GRCm38)	missense	probably benign	0.02
R7472:Pcdh8	UTSW	14	79,771,251 (GRCm38)	splice site	probably null
R7540:Pcdh8	UTSW	14	79,771,103 (GRCm38)	missense	probably benign
R7653:Pcdh8	UTSW	14	79,767,646 (GRCm38)	missense	probably benign	0.01
R7751:Pcdh8	UTSW	14	79,770,703 (GRCm38)	missense	probably damaging	0.96
R7836:Pcdh8	UTSW	14	79,768,661 (GRCm38)	missense	possibly damaging	0.73
R8281:Pcdh8	UTSW	14	79,769,479 (GRCm38)	missense	probably damaging	0.98
R8365:Pcdh8	UTSW	14	79,770,986 (GRCm38)	missense	probably damaging	1.00
R8751:Pcdh8	UTSW	14	79,768,789 (GRCm38)	missense	probably benign	0.01
R8814:Pcdh8	UTSW	14	79,768,897 (GRCm38)	missense	probably benign	0.00
R8931:Pcdh8	UTSW	14	79,769,531 (GRCm38)	nonsense	probably null
R9158:Pcdh8	UTSW	14	79,767,742 (GRCm38)	missense	probably damaging	1.00
R9485:Pcdh8	UTSW	14	79,768,249 (GRCm38)	missense	probably damaging	1.00
R9532:Pcdh8	UTSW	14	79,770,766 (GRCm38)	missense	possibly damaging	0.95
R9558:Pcdh8	UTSW	14	79,768,940 (GRCm38)	missense	probably damaging	0.99
Z1176:Pcdh8	UTSW	14	79,769,077 (GRCm38)	missense	probably benign	0.01
Z1177:Pcdh8	UTSW	14	79,769,881 (GRCm38)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGCAGCAGATCAAAGGCCAGTTC -3'
(R):5'- ACCAAGCCAGTCTATGAGGTGTCG -3'

Sequencing Primer
(F):5'- AAAGGCCAGTTCCCCGTTG -3'
(R):5'- TGTCGGTCCGCGAAAAC -3'

Posted On

2014-04-13