Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Pcdhb8'

169499

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb8

Ensembl Gene

ENSMUSG00000045876

Gene Name

protocadherin beta 8

Synonyms

Pcdhb5C, PcdhbH

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37355121-37358604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37356519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 76 (N76Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051163] [ENSMUST00000115661] [ENSMUST00000192867] [ENSMUST00000194544]

AlphaFold

Q91XZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051163
AA Change: N417Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: N417Y

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	6.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.14e-23	SMART
CA	472	558	9.51e-26	SMART
CA	588	669	5.65e-10	SMART
Pfam:Cadherin_C_2	685	768	1.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192867
AA Change: N76Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
AA Change: N76Y

Domain	Start	End	E-Value	Type
CA	26	104	7e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	possibly damaging	Het

Other mutations in Pcdhb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Pcdhb8	APN	18	37355473	missense	probably benign	0.00
IGL00574:Pcdhb8	APN	18	37356370	missense	probably damaging	1.00
IGL00960:Pcdhb8	APN	18	37355973	missense	probably benign	0.28
IGL01103:Pcdhb8	APN	18	37357200	missense	probably damaging	1.00
IGL01330:Pcdhb8	APN	18	37357578	missense	probably benign	0.12
IGL01413:Pcdhb8	APN	18	37355976	missense	probably damaging	1.00
IGL01418:Pcdhb8	APN	18	37355976	missense	probably damaging	1.00
IGL01608:Pcdhb8	APN	18	37356925	missense	probably damaging	1.00
IGL02212:Pcdhb8	APN	18	37356412	missense	possibly damaging	0.95
IGL02582:Pcdhb8	APN	18	37355374	missense	possibly damaging	0.79
IGL02607:Pcdhb8	APN	18	37357581	missense	probably benign	0.00
IGL02882:Pcdhb8	APN	18	37356223	missense	possibly damaging	0.95
IGL03005:Pcdhb8	APN	18	37357534	missense	probably damaging	1.00
IGL03108:Pcdhb8	APN	18	37357246	missense	probably damaging	1.00
PIT4468001:Pcdhb8	UTSW	18	37356633	missense	probably damaging	1.00
R0104:Pcdhb8	UTSW	18	37355665	missense	probably benign	0.01
R0490:Pcdhb8	UTSW	18	37356780	missense	probably damaging	1.00
R0617:Pcdhb8	UTSW	18	37357047	missense	probably benign	0.02
R1168:Pcdhb8	UTSW	18	37356727	missense	probably benign
R1189:Pcdhb8	UTSW	18	37356567	nonsense	probably null
R1232:Pcdhb8	UTSW	18	37355775	missense	probably benign	0.28
R1576:Pcdhb8	UTSW	18	37356703	missense	probably damaging	1.00
R1731:Pcdhb8	UTSW	18	37355838	missense	probably damaging	1.00
R1908:Pcdhb8	UTSW	18	37355962	missense	possibly damaging	0.84
R1909:Pcdhb8	UTSW	18	37355962	missense	possibly damaging	0.84
R2215:Pcdhb8	UTSW	18	37357074	missense	probably damaging	0.98
R3080:Pcdhb8	UTSW	18	37356166	missense	probably damaging	1.00
R4394:Pcdhb8	UTSW	18	37356882	missense	probably damaging	1.00
R4799:Pcdhb8	UTSW	18	37355653	missense	probably damaging	1.00
R4845:Pcdhb8	UTSW	18	37356718	missense	probably benign	0.43
R4879:Pcdhb8	UTSW	18	37356166	missense	probably damaging	1.00
R4941:Pcdhb8	UTSW	18	37356006	missense	probably benign	0.03
R5086:Pcdhb8	UTSW	18	37356106	missense	probably damaging	1.00
R5416:Pcdhb8	UTSW	18	37356955	missense	probably damaging	1.00
R5774:Pcdhb8	UTSW	18	37356685	missense	probably damaging	1.00
R5898:Pcdhb8	UTSW	18	37357484	missense	possibly damaging	0.92
R5935:Pcdhb8	UTSW	18	37356190	missense	probably damaging	1.00
R6191:Pcdhb8	UTSW	18	37356226	missense	probably benign
R6228:Pcdhb8	UTSW	18	37356984	missense	probably benign	0.05
R6245:Pcdhb8	UTSW	18	37357169	missense	possibly damaging	0.80
R6397:Pcdhb8	UTSW	18	37355463	nonsense	probably null
R7469:Pcdhb8	UTSW	18	37355958	missense	probably damaging	1.00
R7632:Pcdhb8	UTSW	18	37355595	missense	probably benign	0.00
R8323:Pcdhb8	UTSW	18	37355423	missense	probably benign	0.23
R8735:Pcdhb8	UTSW	18	37356922	missense	possibly damaging	0.91
R8841:Pcdhb8	UTSW	18	37355646	missense	probably benign	0.26
R8856:Pcdhb8	UTSW	18	37356723	missense	probably benign	0.01
R9020:Pcdhb8	UTSW	18	37356784	missense	probably damaging	1.00
R9055:Pcdhb8	UTSW	18	37357532	nonsense	probably null
R9077:Pcdhb8	UTSW	18	37356361	missense	probably damaging	0.99
R9387:Pcdhb8	UTSW	18	37355698	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATGTGAACGACAATGCCCC -3'
(R):5'- TCTGAGTTGATGGAGATCAGCGAGG -3'

Sequencing Primer
(F):5'- TAGTTCCATCCCAGAAAATGCTC -3'
(R):5'- CATTGGAGCCAGAGTCTGAGTC -3'

Posted On

2014-04-13