Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Pcdh8'

168358

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

Papc, 1700080P15Rik

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

80004224-80008752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80006829 bp (GRCm39)

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: 125,592,041 (GRCm39)	N576K	probably benign	Het
Abca5	G	T	11: 110,190,804 (GRCm39)	L769M	probably damaging	Het
Abca5	T	A	11: 110,190,812 (GRCm39)	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,177,896 (GRCm39)	I191T	probably damaging	Het
Agps	A	T	2: 75,697,123 (GRCm39)	E314D	probably damaging	Het
Agxt	G	A	1: 93,063,490 (GRCm39)	G131R	probably damaging	Het
Ak8	A	G	2: 28,632,758 (GRCm39)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,613,062 (GRCm39)	I329N	probably benign	Het
Apaf1	T	C	10: 90,896,047 (GRCm39)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,369,081 (GRCm39)	S68P	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AU022252	C	T	4: 119,085,294 (GRCm39)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,246,636 (GRCm39)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Cep76	T	C	18: 67,758,028 (GRCm39)	M421V	probably benign	Het
Clk2	A	G	3: 89,076,010 (GRCm39)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,439,128 (GRCm39)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,737,422 (GRCm39)	D180E	probably benign	Het
Col12a1	T	C	9: 79,606,834 (GRCm39)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,415,788 (GRCm39)		probably benign	Het
Cr2	T	G	1: 194,837,580 (GRCm39)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,374,475 (GRCm39)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,718,321 (GRCm39)		probably benign	Het
Cxcr1	T	C	1: 74,231,929 (GRCm39)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,535,361 (GRCm39)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,227,538 (GRCm39)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,186,278 (GRCm39)	V462A	probably benign	Het
Elmo1	A	G	13: 20,474,647 (GRCm39)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,768,374 (GRCm39)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,965,717 (GRCm39)	I370T	probably benign	Het
Esp36	A	T	17: 38,728,172 (GRCm39)	N79K	possibly damaging	Het
Fam229b	A	G	10: 38,994,915 (GRCm39)	*81Q	probably null	Het
Fat4	T	C	3: 39,037,225 (GRCm39)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,148,205 (GRCm39)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,281,331 (GRCm39)		noncoding transcript	Het
Galm	C	A	17: 80,490,696 (GRCm39)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,316,446 (GRCm39)	S735T	probably benign	Het
Hsph1	A	T	5: 149,553,848 (GRCm39)	S207T	probably benign	Het
Il33	C	T	19: 29,932,615 (GRCm39)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm39)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,097,062 (GRCm39)		probably null	Het
Kirrel2	A	G	7: 30,155,923 (GRCm39)	C42R	probably damaging	Het
Letm1	A	C	5: 33,909,899 (GRCm39)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,652,791 (GRCm39)	K160N	probably benign	Het
Lrrtm3	A	G	10: 63,924,804 (GRCm39)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,327,534 (GRCm39)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,279 (GRCm39)	D378E	probably damaging	Het
Mpzl3	A	G	9: 44,977,827 (GRCm39)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,359,676 (GRCm39)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,780,875 (GRCm39)		probably null	Het
Nckap1	T	C	2: 80,383,759 (GRCm39)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,830,242 (GRCm39)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,112,772 (GRCm39)	D143V	probably damaging	Het
Or14a260	T	C	7: 85,985,553 (GRCm39)	D17G	possibly damaging	Het
Or4a69	T	C	2: 89,312,592 (GRCm39)	M296V	probably null	Het
Or4b1d	A	G	2: 89,968,748 (GRCm39)	V245A	probably benign	Het
Or4c120	A	G	2: 89,001,281 (GRCm39)	S92P	probably damaging	Het
Or4f58	A	G	2: 111,851,749 (GRCm39)	V150A	probably benign	Het
Or52b4i	T	C	7: 102,191,332 (GRCm39)	L63P	probably damaging	Het
Or8b44	A	G	9: 38,410,114 (GRCm39)	I50V	probably benign	Het
Or8g17	T	C	9: 38,930,321 (GRCm39)	D172G	probably benign	Het
Parp14	T	G	16: 35,677,594 (GRCm39)	E791D	probably benign	Het
Phrf1	T	A	7: 140,839,714 (GRCm39)		probably benign	Het
Polr3b	C	A	10: 84,516,249 (GRCm39)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,087,720 (GRCm39)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,132,460 (GRCm39)	V33D	probably damaging	Het
Ppp5c	A	G	7: 16,743,907 (GRCm39)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,124,742 (GRCm39)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,671,555 (GRCm39)	V122M	probably damaging	Het
Rasef	G	T	4: 73,653,985 (GRCm39)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,037,554 (GRCm39)	S198P	probably damaging	Het
Rbm12	A	T	2: 155,939,456 (GRCm39)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,385,884 (GRCm39)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,622,173 (GRCm39)	S384P	probably benign	Het
Rpsa	A	T	9: 119,960,066 (GRCm39)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,247,016 (GRCm39)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,357,157 (GRCm39)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,577,482 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,387 (GRCm39)	V19A	probably damaging	Het
Snx14	G	A	9: 88,280,417 (GRCm39)	Q522*	probably null	Het
Stx1b	A	G	7: 127,414,144 (GRCm39)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,511,376 (GRCm39)	M371K	probably benign	Het
Tmem115	T	C	9: 107,412,174 (GRCm39)	V166A	probably benign	Het
Traf5	T	A	1: 191,731,912 (GRCm39)	T310S	probably benign	Het
Trdn	A	G	10: 33,342,448 (GRCm39)	K619E	probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Txk	A	C	5: 72,865,014 (GRCm39)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,389,344 (GRCm39)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,190,023 (GRCm39)		probably null	Het
Ubtfl1	T	G	9: 18,321,489 (GRCm39)	I339R	probably benign	Het
Upf1	A	G	8: 70,791,155 (GRCm39)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,512,823 (GRCm39)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,771 (GRCm39)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,055,197 (GRCm39)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vmn2r130	A	G	17: 23,282,775 (GRCm39)	T152A	probably benign	Het
Vps13b	T	C	15: 35,840,121 (GRCm39)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,719 (GRCm39)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,679,501 (GRCm39)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,561,259 (GRCm39)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,921,013 (GRCm39)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,819,771 (GRCm39)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 23,975,156 (GRCm39)	C380*	probably null	Het
Zfp960	T	A	17: 17,308,518 (GRCm39)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,355,619 (GRCm39)	V430E	probably damaging	Het

Other mutations in Pcdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pcdh8	APN	14	80,006,686 (GRCm39)	missense	probably damaging	0.99
IGL02611:Pcdh8	APN	14	80,005,107 (GRCm39)	missense	probably benign	0.00
R0094:Pcdh8	UTSW	14	80,005,588 (GRCm39)	missense	probably damaging	1.00
R0118:Pcdh8	UTSW	14	80,004,848 (GRCm39)	missense	probably damaging	1.00
R0558:Pcdh8	UTSW	14	80,007,516 (GRCm39)	missense	probably damaging	1.00
R0681:Pcdh8	UTSW	14	80,007,400 (GRCm39)	missense	probably benign
R0718:Pcdh8	UTSW	14	80,008,131 (GRCm39)	missense	possibly damaging	0.49
R1281:Pcdh8	UTSW	14	80,005,166 (GRCm39)	missense	probably damaging	1.00
R1487:Pcdh8	UTSW	14	80,006,987 (GRCm39)	missense	probably damaging	1.00
R1552:Pcdh8	UTSW	14	80,008,047 (GRCm39)	missense	probably benign	0.20
R1556:Pcdh8	UTSW	14	80,007,843 (GRCm39)	missense	probably damaging	1.00
R1659:Pcdh8	UTSW	14	80,005,574 (GRCm39)	missense	probably damaging	1.00
R2062:Pcdh8	UTSW	14	80,005,651 (GRCm39)	missense	probably damaging	1.00
R2063:Pcdh8	UTSW	14	80,005,651 (GRCm39)	missense	probably damaging	1.00
R2068:Pcdh8	UTSW	14	80,005,651 (GRCm39)	missense	probably damaging	1.00
R2920:Pcdh8	UTSW	14	80,006,154 (GRCm39)	missense	possibly damaging	0.88
R3970:Pcdh8	UTSW	14	80,007,706 (GRCm39)	missense	possibly damaging	0.78
R4113:Pcdh8	UTSW	14	80,004,953 (GRCm39)	missense	probably damaging	1.00
R4771:Pcdh8	UTSW	14	80,005,710 (GRCm39)	missense	possibly damaging	0.48
R4840:Pcdh8	UTSW	14	80,008,308 (GRCm39)	missense	possibly damaging	0.67
R5169:Pcdh8	UTSW	14	80,005,095 (GRCm39)	missense	probably benign	0.09
R5187:Pcdh8	UTSW	14	80,007,594 (GRCm39)	missense	probably damaging	0.99
R5415:Pcdh8	UTSW	14	80,007,688 (GRCm39)	nonsense	probably null
R5548:Pcdh8	UTSW	14	80,004,942 (GRCm39)	missense	probably damaging	1.00
R5749:Pcdh8	UTSW	14	80,007,525 (GRCm39)	missense	probably damaging	1.00
R5778:Pcdh8	UTSW	14	80,008,197 (GRCm39)	missense	probably damaging	1.00
R5795:Pcdh8	UTSW	14	80,008,420 (GRCm39)	missense	possibly damaging	0.95
R6313:Pcdh8	UTSW	14	80,005,091 (GRCm39)	missense	probably benign	0.02
R7472:Pcdh8	UTSW	14	80,008,691 (GRCm39)	splice site	probably null
R7540:Pcdh8	UTSW	14	80,008,543 (GRCm39)	missense	probably benign
R7653:Pcdh8	UTSW	14	80,005,086 (GRCm39)	missense	probably benign	0.01
R7751:Pcdh8	UTSW	14	80,008,143 (GRCm39)	missense	probably damaging	0.96
R7836:Pcdh8	UTSW	14	80,006,101 (GRCm39)	missense	possibly damaging	0.73
R8281:Pcdh8	UTSW	14	80,006,919 (GRCm39)	missense	probably damaging	0.98
R8365:Pcdh8	UTSW	14	80,008,426 (GRCm39)	missense	probably damaging	1.00
R8751:Pcdh8	UTSW	14	80,006,229 (GRCm39)	missense	probably benign	0.01
R8814:Pcdh8	UTSW	14	80,006,337 (GRCm39)	missense	probably benign	0.00
R8931:Pcdh8	UTSW	14	80,006,971 (GRCm39)	nonsense	probably null
R9158:Pcdh8	UTSW	14	80,005,182 (GRCm39)	missense	probably damaging	1.00
R9485:Pcdh8	UTSW	14	80,005,689 (GRCm39)	missense	probably damaging	1.00
R9532:Pcdh8	UTSW	14	80,008,206 (GRCm39)	missense	possibly damaging	0.95
R9558:Pcdh8	UTSW	14	80,006,380 (GRCm39)	missense	probably damaging	0.99
Z1176:Pcdh8	UTSW	14	80,006,517 (GRCm39)	missense	probably benign	0.01
Z1177:Pcdh8	UTSW	14	80,007,321 (GRCm39)	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