Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Pcdh8'

606001

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

Papc, 1700080P15Rik

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7836 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

80004224-80008752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80006101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 821 (T821P)

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: T821P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: T821P

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	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
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'- GCGACAGGTTAAACATCTCCCTG -3'
(R):5'- TTGCAGCCATCATCGCCATC -3'

Sequencing Primer
(F):5'- TGTGAGAGCCCACCCTTAC -3'
(R):5'- ATCATCGCCATCGCCAC -3'

Posted On

2019-12-20