Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Pcdh8'

663871

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

Papc, 1700080P15Rik

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8751 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

80004224-80008752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80006229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 778 (E778G)

Ref Sequence

ENSEMBL: ENSMUSP00000045333 (fasta)

Gene Model

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

AlphaFold

Q7TSK3

Predicted Effect

probably benign
Transcript: ENSMUST00000039568
AA Change: E778G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: E778G

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

probably benign
Transcript: ENSMUST00000195355
AA Change: E778G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: E778G

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Ltf	A	T	9: 110,860,192 (GRCm39)	K538*	probably null	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Pms1	T	C	1: 53,231,269 (GRCm39)	N860S	probably benign	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Smg7	T	C	1: 152,719,129 (GRCm39)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm39)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,066,190 (GRCm39)	K54E	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
R1511:Pcdh8	UTSW	14	80,006,829 (GRCm39)	missense	possibly damaging	0.46
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
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'- TCGAAGTGACAGGCGCTTTC -3'
(R):5'- TGCAACCGTCAGTTTCGTG -3'

Sequencing Primer
(F):5'- TGACAGGCGCTTTCCCCAG -3'
(R):5'- AACCGTCAGTTTCGTGGTAACAG -3'

Posted On

2021-03-08