Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Pcdh8'

255492

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

1700080P15Rik, Papc

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2920 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

79766775-79771312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79768714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 803 (P803Q)

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: P803Q

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: P803Q

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

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422

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

0.0608

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Pcdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pcdh8	APN	14	79769246	missense	probably damaging	0.99
IGL02611:Pcdh8	APN	14	79767667	missense	probably benign	0.00
R0094:Pcdh8	UTSW	14	79768148	missense	probably damaging	1.00
R0118:Pcdh8	UTSW	14	79767408	missense	probably damaging	1.00
R0558:Pcdh8	UTSW	14	79770076	missense	probably damaging	1.00
R0681:Pcdh8	UTSW	14	79769960	missense	probably benign
R0718:Pcdh8	UTSW	14	79770691	missense	possibly damaging	0.49
R1281:Pcdh8	UTSW	14	79767726	missense	probably damaging	1.00
R1487:Pcdh8	UTSW	14	79769547	missense	probably damaging	1.00
R1511:Pcdh8	UTSW	14	79769389	missense	possibly damaging	0.46
R1552:Pcdh8	UTSW	14	79770607	missense	probably benign	0.20
R1556:Pcdh8	UTSW	14	79770403	missense	probably damaging	1.00
R1659:Pcdh8	UTSW	14	79768134	missense	probably damaging	1.00
R2062:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2063:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2068:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R3970:Pcdh8	UTSW	14	79770266	missense	possibly damaging	0.78
R4113:Pcdh8	UTSW	14	79767513	missense	probably damaging	1.00
R4771:Pcdh8	UTSW	14	79768270	missense	possibly damaging	0.48
R4840:Pcdh8	UTSW	14	79770868	missense	possibly damaging	0.67
R5169:Pcdh8	UTSW	14	79767655	missense	probably benign	0.09
R5187:Pcdh8	UTSW	14	79770154	missense	probably damaging	0.99
R5415:Pcdh8	UTSW	14	79770248	nonsense	probably null
R5548:Pcdh8	UTSW	14	79767502	missense	probably damaging	1.00
R5749:Pcdh8	UTSW	14	79770085	missense	probably damaging	1.00
R5778:Pcdh8	UTSW	14	79770757	missense	probably damaging	1.00
R5795:Pcdh8	UTSW	14	79770980	missense	possibly damaging	0.95
R6313:Pcdh8	UTSW	14	79767651	missense	probably benign	0.02
R7472:Pcdh8	UTSW	14	79771251	splice site	probably null
R7540:Pcdh8	UTSW	14	79771103	missense	probably benign
R7653:Pcdh8	UTSW	14	79767646	missense	probably benign	0.01
R7751:Pcdh8	UTSW	14	79770703	missense	probably damaging	0.96
R7836:Pcdh8	UTSW	14	79768661	missense	possibly damaging	0.73
R8281:Pcdh8	UTSW	14	79769479	missense	probably damaging	0.98
R8365:Pcdh8	UTSW	14	79770986	missense	probably damaging	1.00
R8751:Pcdh8	UTSW	14	79768789	missense	probably benign	0.01
R8814:Pcdh8	UTSW	14	79768897	missense	probably benign	0.00
R8931:Pcdh8	UTSW	14	79769531	nonsense	probably null
R9158:Pcdh8	UTSW	14	79767742	missense	probably damaging	1.00
R9485:Pcdh8	UTSW	14	79768249	missense	probably damaging	1.00
R9532:Pcdh8	UTSW	14	79770766	missense	possibly damaging	0.95
R9558:Pcdh8	UTSW	14	79768940	missense	probably damaging	0.99
Z1176:Pcdh8	UTSW	14	79769077	missense	probably benign	0.01
Z1177:Pcdh8	UTSW	14	79769881	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACAGGTTAAACATCTCCCTGTG -3'
(R):5'- CGCTGATCGTCATCATCGTG -3'

Sequencing Primer
(F):5'- TCGAAGTGACAGGCGCTTTC -3'
(R):5'- GATCGTCATCATCGTGTTAGCCG -3'

Posted On

2014-12-29