Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03144:Pcdhb6'

410801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37334406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 127 (N127D)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

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

AlphaFold

Q91XZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061717
AA Change: N127D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: N127D

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 benign
Transcript: ENSMUST00000194655

SMART Domains

Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,381,964	Q451K	probably benign	Het
Acly	A	T	11: 100,515,083	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,946,482		probably benign	Het
Ascc3	T	C	10: 50,767,443	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,758,351	V467A	probably benign	Het
Ccdc171	A	T	4: 83,818,090	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,648,866	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,468,174	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,971,519	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,090,868	A2571S	probably damaging	Het
Cog2	T	C	8: 124,541,024	S360P	probably damaging	Het
Col26a1	G	T	5: 136,765,348	T132N	probably damaging	Het
Col6a2	T	A	10: 76,614,425	H224L	probably benign	Het
Cpm	C	T	10: 117,683,414	S409L	probably benign	Het
Dock4	G	T	12: 40,692,907		probably benign	Het
Dpy19l2	T	A	9: 24,646,307	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,554,135	G126D	probably damaging	Het
Eya3	T	C	4: 132,693,142	S256P	probably benign	Het
Fat3	T	C	9: 16,375,245	D994G	probably damaging	Het
Fat4	A	G	3: 38,956,859	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,101,455	Q662R	probably null	Het
Gm13271	A	G	4: 88,755,399	R178G	probably benign	Het
Gpr165	T	A	X: 96,716,954	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,631,945	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,709,888	L328P	probably damaging	Het
Klhl26	C	T	8: 70,452,564	R198H	probably damaging	Het
Nhsl2	A	G	X: 102,079,509	R973G	possibly damaging	Het
Nmi	A	T	2: 51,952,534	F182Y	probably damaging	Het
Nop2	T	A	6: 125,137,512		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr50	A	G	2: 36,794,081	T282A	probably benign	Het
Ooep	G	T	9: 78,378,007	A109E	possibly damaging	Het
Pan3	T	C	5: 147,450,781		probably benign	Het
Rabgap1	G	A	2: 37,540,532	R695H	probably damaging	Het
Rxrg	G	A	1: 167,598,758	G3R	possibly damaging	Het
Slc17a3	T	C	13: 23,846,440	M178T	probably benign	Het
Slc39a8	A	G	3: 135,884,210	E287G	probably benign	Het
Slc44a5	G	T	3: 154,243,540	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,250,466	V346L	probably benign	Het
Slc9a4	T	C	1: 40,612,202	Y547H	probably damaging	Het
St6galnac3	A	C	3: 153,205,527	Y266D	probably damaging	Het
Stard6	A	T	18: 70,476,111	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,629,136	L53F	probably damaging	Het
Tep1	A	T	14: 50,844,017		probably benign	Het
Tmem151a	T	A	19: 5,085,372	M1L	probably benign	Het
Trim10	T	C	17: 36,876,848	S319P	probably damaging	Het
Trmt44	G	T	5: 35,564,422	P466T	probably benign	Het
Unc79	T	C	12: 103,042,142	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,350,019	L33F	possibly damaging	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
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
R3625:Pcdhb6	UTSW	18	37336140	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

Posted On

2016-08-02