Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Pcdh8'

367540

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

Papc, 1700080P15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4771 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

80004224-80008752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80005710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 893 (A893T)

Ref Sequence

ENSEMBL: ENSMUSP00000045333 (fasta)

Gene Model

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

AlphaFold

Q7TSK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039568
AA Change: A893T

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: A893T

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 benign
Transcript: ENSMUST00000195355
AA Change: A796T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: A796T

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,300 (GRCm39)	T148A	probably benign	Het
Abcc4	G	T	14: 118,721,796 (GRCm39)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,249,516 (GRCm39)		probably null	Het
Aqp9	C	T	9: 71,030,152 (GRCm39)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,621 (GRCm39)	N533I	probably damaging	Het
Brwd1	A	G	16: 95,804,518 (GRCm39)	V1884A	probably benign	Het
Ccdc106	G	A	7: 5,060,521 (GRCm39)		probably null	Het
Cfap46	A	T	7: 139,210,524 (GRCm39)	L1774Q	probably null	Het
Cfap95	A	G	19: 23,536,337 (GRCm39)	L190P	probably damaging	Het
Cibar1	T	A	4: 12,155,689 (GRCm39)	Q311L	probably benign	Het
Clec2h	G	A	6: 128,651,118 (GRCm39)	E133K	probably damaging	Het
Cntn1	T	A	15: 92,202,972 (GRCm39)	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,630,917 (GRCm39)	M62L	probably benign	Het
Col7a1	T	C	9: 108,800,993 (GRCm39)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,684 (GRCm39)	L28*	probably null	Het
Crb1	T	A	1: 139,255,942 (GRCm39)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,311,512 (GRCm39)	S426T	probably benign	Het
Cspg5	T	A	9: 110,080,195 (GRCm39)	N373K	probably damaging	Het
Ctso	T	C	3: 81,840,047 (GRCm39)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,519,434 (GRCm39)	D348A	probably benign	Het
Diaph1	A	T	18: 37,986,604 (GRCm39)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,900,375 (GRCm39)	K397*	probably null	Het
Dock3	T	A	9: 106,829,557 (GRCm39)	H1119L	possibly damaging	Het
Dok4	G	T	8: 95,591,795 (GRCm39)		probably null	Het
Dram2	A	G	3: 106,480,361 (GRCm39)	T225A	probably damaging	Het
Dst	G	A	1: 34,288,565 (GRCm39)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,775,996 (GRCm39)	F18S	probably damaging	Het
Epha5	A	G	5: 84,298,278 (GRCm39)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,418,884 (GRCm39)		probably null	Het
Exph5	C	T	9: 53,284,965 (GRCm39)	T682I	possibly damaging	Het
Fnbp1l	A	T	3: 122,351,752 (GRCm39)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,725,314 (GRCm39)	D580E	probably benign	Het
Gm10277	G	A	11: 77,676,534 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,756,126 (GRCm39)	V352E	probably damaging	Het
Gtf2a1l	C	A	17: 88,997,448 (GRCm39)	P93Q	probably benign	Het
Hydin	A	T	8: 111,259,515 (GRCm39)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,876,087 (GRCm39)	I6S	probably benign	Het
Irs1	A	G	1: 82,265,696 (GRCm39)	V840A	probably benign	Het
Itgal	A	G	7: 126,927,405 (GRCm39)	E965G	probably damaging	Het
Izumo1	T	G	7: 45,272,233 (GRCm39)	F5V	probably benign	Het
Izumo1	T	A	7: 45,272,234 (GRCm39)	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,978,687 (GRCm39)	S175P	probably damaging	Het
Klf14	A	G	6: 30,934,960 (GRCm39)	F225L	probably damaging	Het
Kpna1	T	C	16: 35,853,773 (GRCm39)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,617,494 (GRCm39)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,665,986 (GRCm39)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,292,834 (GRCm39)	N229Y	probably damaging	Het
Marchf3	T	A	18: 56,916,170 (GRCm39)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,300,124 (GRCm39)		probably null	Het
Med27	T	A	2: 29,303,515 (GRCm39)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,518,273 (GRCm39)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,794,775 (GRCm39)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,179,087 (GRCm39)	L1104F	probably damaging	Het
Mta3	A	G	17: 84,063,103 (GRCm39)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 91,096,727 (GRCm39)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm39)	I155V	probably benign	Het
Myh7b	G	A	2: 155,468,314 (GRCm39)	W834*	probably null	Het
Myo18b	T	A	5: 112,840,093 (GRCm39)	R2567*	probably null	Het
Nars2	A	T	7: 96,684,452 (GRCm39)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,312,260 (GRCm39)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,268,878 (GRCm39)	S167R	probably damaging	Het
Nup133	T	A	8: 124,656,137 (GRCm39)	D448V	probably damaging	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or5p70	A	T	7: 107,995,229 (GRCm39)	K301*	probably null	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Per3	A	T	4: 151,093,716 (GRCm39)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm39)	S44P	probably damaging	Het
Pou4f2	T	A	8: 79,161,865 (GRCm39)	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,481,429 (GRCm39)	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,524,288 (GRCm39)	S482P	probably benign	Het
Rbm14	G	T	19: 4,852,671 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,254,698 (GRCm39)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 70,034,499 (GRCm39)	I242T	probably benign	Het
Runx1	C	A	16: 92,492,629 (GRCm39)	V5L	possibly damaging	Het
Shld2	G	A	14: 33,990,663 (GRCm39)	T81M	probably damaging	Het
Slc13a1	A	T	6: 24,100,339 (GRCm39)	Y381*	probably null	Het
Smyd3	A	T	1: 178,921,961 (GRCm39)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,326,658 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,934 (GRCm39)	V678I	probably damaging	Het
Spag5	G	A	11: 78,195,592 (GRCm39)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,704,154 (GRCm39)	R560W	probably damaging	Het
Spen	T	C	4: 141,199,907 (GRCm39)	T2884A	probably benign	Het
Spg11	G	A	2: 121,895,963 (GRCm39)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,613,234 (GRCm39)		probably null	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Sspo	A	G	6: 48,437,813 (GRCm39)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,288,982 (GRCm39)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,261,377 (GRCm39)	N76K	probably benign	Het
Trpm6	A	G	19: 18,790,857 (GRCm39)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,024,655 (GRCm39)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,569,296 (GRCm39)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,464,088 (GRCm39)		probably null	Het
Ubr5	A	C	15: 38,018,541 (GRCm39)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,550,406 (GRCm39)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,529,966 (GRCm39)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,219,377 (GRCm39)		probably null	Het
Vill	T	A	9: 118,897,502 (GRCm39)	M259K	probably damaging	Het
Vldlr	T	C	19: 27,217,290 (GRCm39)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,831,887 (GRCm39)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,946 (GRCm39)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,836,821 (GRCm39)	V1773A	probably benign	Het
Vtn	A	G	11: 78,392,400 (GRCm39)	D326G	probably benign	Het
Wdr93	A	T	7: 79,426,511 (GRCm39)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,317,953 (GRCm39)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,291,311 (GRCm39)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,420,312 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,268,309 (GRCm39)	D369G	probably damaging	Het
Zfp608	T	A	18: 55,121,372 (GRCm39)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,088,286 (GRCm39)	V705E	probably benign	Het
Zfp974	T	C	7: 27,625,733 (GRCm39)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,663,416 (GRCm39)	Q52*	probably null	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
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'- GGAGAAGCATCCTTACCACTC -3'
(R):5'- AAAGCGCCTGTCACTTCGAG -3'

Sequencing Primer
(F):5'- GAAGCATCCTTACCACTCTGCATG -3'
(R):5'- TGTCACTTCGAGGGGCAG -3'

Posted On

2015-12-29