Mutagenetix > Incidental Mutation

Incidental Mutation 'R3625:Pcdhb6'

269397

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

MMRRC Submission

040679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R3625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37336140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 21 (V21L)

Ref Sequence

ENSEMBL: ENSMUSP00000141773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]

AlphaFold

Q91XZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000061717
AA Change: V705L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: V705L

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.7e-33	PFAM
CA	155	240	1.48e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.69e-22	SMART
CA	472	558	1.65e-25	SMART
CA	588	669	6.24e-12	SMART
Pfam:Cadherin_C_2	685	768	4.7e-26	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 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194655
AA Change: V21L

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

SMART Domains

Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
AA Change: V21L

Domain	Start	End	E-Value	Type
Blast:CA	1	60	2e-11	BLAST

Meta Mutation Damage Score

0.2137

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg3	T	A	16: 45,175,261	I119N	probably benign	Het
Cdh12	G	C	15: 21,358,756	V89L	probably damaging	Het
Cdh3	C	A	8: 106,543,678	H396N	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Dab2ip	C	A	2: 35,643,891	S43*	probably null	Het
Dmxl2	A	G	9: 54,393,643	S2394P	probably benign	Het
F13a1	T	G	13: 36,898,093	N546H	probably benign	Het
Fbn2	T	C	18: 58,061,742	N1449S	probably damaging	Het
Flywch1	T	C	17: 23,760,201		probably benign	Het
Gm10436	T	C	12: 88,175,961	S296G	probably benign	Het
Gm498	T	C	7: 143,871,854	V80A	possibly damaging	Het
Grxcr2	T	A	18: 41,998,818	D62V	probably damaging	Het
Hist1h2bg	T	C	13: 23,571,451		probably benign	Het
Ifnab	A	T	4: 88,690,779	I150N	probably damaging	Het
Igsf8	T	C	1: 172,317,769	V284A	probably benign	Het
Kdm1a	T	C	4: 136,561,108	E388G	possibly damaging	Het
Map3k8	G	A	18: 4,333,965	R376C	probably damaging	Het
Map6	A	T	7: 99,269,195	T189S	possibly damaging	Het
Mms22l	T	A	4: 24,505,357	S206T	probably damaging	Het
N4bp1	A	G	8: 86,851,709	L676S	probably damaging	Het
Nkx6-2	A	G	7: 139,582,190	F117S	possibly damaging	Het
Ociad2	C	T	5: 73,323,830	C72Y	probably damaging	Het
Olfr1490	T	A	19: 13,654,982	C184*	probably null	Het
Olfr672	A	T	7: 104,995,984	F307I	probably benign	Het
Pogk	G	A	1: 166,403,512	T82I	probably damaging	Het
Prkcsh	A	G	9: 22,011,252	E283G	probably null	Het
Prkd3	C	T	17: 78,985,304	R113H	probably damaging	Het
Rabgef1	T	C	5: 130,212,120		probably null	Het
Rec8	T	C	14: 55,622,497	I234T	possibly damaging	Het
Sim1	A	T	10: 50,981,336	H394L	probably benign	Het
Thy1	A	G	9: 44,046,731	E52G	probably damaging	Het
Trav14n-3	A	T	14: 53,370,086	I4F	probably damaging	Het
Trim15	T	C	17: 36,866,876	T76A	possibly damaging	Het
Ttn	A	G	2: 76,768,801	I19288T	probably damaging	Het
Vmn1r6	C	T	6: 57,002,935	T172I	probably damaging	Het
Vmn2r52	A	T	7: 10,159,178	L678Q	probably damaging	Het
Vpreb1	T	C	16: 16,868,804	H74R	probably benign	Het
Yeats4	T	C	10: 117,220,368	I100V	probably benign	Het
Zfp36	C	A	7: 28,378,256	A76S	probably benign	Het

Other mutations in Pcdhb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pcdhb6	APN	18	37334224	missense	probably damaging	1.00
IGL02123:Pcdhb6	APN	18	37335820	missense	probably damaging	1.00
IGL02491:Pcdhb6	APN	18	37335682	missense	probably damaging	1.00
IGL02496:Pcdhb6	APN	18	37335454	missense	probably damaging	1.00
IGL02608:Pcdhb6	APN	18	37334694	missense	probably damaging	0.99
IGL03130:Pcdhb6	APN	18	37335587	nonsense	probably null
IGL03144:Pcdhb6	APN	18	37334406	missense	probably damaging	1.00
IGL03189:Pcdhb6	APN	18	37336152	missense	probably damaging	0.98
IGL03203:Pcdhb6	APN	18	37334532	missense	possibly damaging	0.95
IGL03388:Pcdhb6	APN	18	37336137	missense	probably damaging	0.99
PIT4445001:Pcdhb6	UTSW	18	37335247	missense	possibly damaging	0.67
R0571:Pcdhb6	UTSW	18	37335114	missense	probably benign	0.01
R0734:Pcdhb6	UTSW	18	37335334	missense	probably damaging	0.99
R1727:Pcdhb6	UTSW	18	37334587	missense	probably damaging	1.00
R2206:Pcdhb6	UTSW	18	37335580	missense	probably benign	0.10
R2207:Pcdhb6	UTSW	18	37335580	missense	probably benign	0.10
R2303:Pcdhb6	UTSW	18	37336231	missense	probably damaging	1.00
R2401:Pcdhb6	UTSW	18	37335169	missense	probably benign	0.35
R3409:Pcdhb6	UTSW	18	37335892	missense	probably damaging	1.00
R3411:Pcdhb6	UTSW	18	37335892	missense	probably damaging	1.00
R3716:Pcdhb6	UTSW	18	37336206	missense	probably benign	0.01
R4745:Pcdhb6	UTSW	18	37335373	missense	possibly damaging	0.86
R4821:Pcdhb6	UTSW	18	37334328	missense	probably damaging	1.00
R5218:Pcdhb6	UTSW	18	37334335	missense	possibly damaging	0.95
R5465:Pcdhb6	UTSW	18	37334730	missense	probably damaging	0.97
R5522:Pcdhb6	UTSW	18	37334349	missense	probably benign
R5556:Pcdhb6	UTSW	18	37334389	missense	probably damaging	1.00
R5703:Pcdhb6	UTSW	18	37334700	missense	probably benign	0.15
R6154:Pcdhb6	UTSW	18	37334913	missense	probably benign	0.00
R6256:Pcdhb6	UTSW	18	37335925	missense	probably damaging	0.98
R6304:Pcdhb6	UTSW	18	37335921	nonsense	probably null
R6528:Pcdhb6	UTSW	18	37334503	missense	probably damaging	1.00
R6883:Pcdhb6	UTSW	18	37335145	missense	probably damaging	1.00
R7045:Pcdhb6	UTSW	18	37336276	missense	possibly damaging	0.88
R7307:Pcdhb6	UTSW	18	37335478	missense	probably benign
R7313:Pcdhb6	UTSW	18	37335208	missense	probably damaging	0.99
R7378:Pcdhb6	UTSW	18	37335172	missense	probably damaging	1.00
R7555:Pcdhb6	UTSW	18	37335279	missense	possibly damaging	0.60
R7606:Pcdhb6	UTSW	18	37335606	missense	probably damaging	0.99
R7701:Pcdhb6	UTSW	18	37334509	missense	probably damaging	1.00
R7830:Pcdhb6	UTSW	18	37336312	missense	probably benign	0.05
R7905:Pcdhb6	UTSW	18	37334554	missense	probably benign	0.00
R7982:Pcdhb6	UTSW	18	37334220	nonsense	probably null
R8818:Pcdhb6	UTSW	18	37335784	missense	probably benign	0.06
R8917:Pcdhb6	UTSW	18	37335378	missense	possibly damaging	0.92
R9397:Pcdhb6	UTSW	18	37336300	missense	probably benign	0.00
Z1088:Pcdhb6	UTSW	18	37335146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACGAGATGTACCCAAGCAC -3'
(R):5'- AATCTGTTGTCCCAGAGTCTCC -3'

Sequencing Primer
(F):5'- CTGTTGCTGGTCAAGGACAATG -3'
(R):5'- TCCCAGAGTCTCCGCTCAG -3'

Posted On

2015-02-19