Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Pcdh8'

262044

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

Papc, 1700080P15Rik

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0718 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80004224-80008752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80008131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

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: V144A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: V144A

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: V144A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: V144A

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

0.6725

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly 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
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
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'- TCATTGGCATCTAGCACACGCAC -3'
(R):5'- AGCAATTCAACAGCTCTCTGCTCC -3'

Sequencing Primer
(F):5'- GTCCAACTCCTGTAGCAGC -3'
(R):5'- TCTCTGCTCCGGGTACG -3'

Posted On

2015-02-04