Mutagenetix > Incidental Mutations

Incidental Mutation 'R0734:Pcdhb6'

68184

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

MMRRC Submission

038915-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37335334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 436 (I436T)

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: I436T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: I436T

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

Meta Mutation Damage Score

0.4478

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,850,334	S530T	probably benign	Het
Acer2	G	T	4: 86,917,559	K223N	probably benign	Het
Adam19	T	G	11: 46,127,403	C431G	probably damaging	Het
Adamts16	T	G	13: 70,738,481		probably benign	Het
Aox2	A	T	1: 58,305,341	E531V	probably benign	Het
Apaf1	A	T	10: 91,037,021	N720K	probably benign	Het
Atrnl1	T	A	19: 57,654,861	W394R	probably damaging	Het
Bcl6	T	C	16: 23,968,139	E634G	probably damaging	Het
Cfap65	T	A	1: 74,918,887	Y954F	probably damaging	Het
Cobl	A	G	11: 12,375,971	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,041	P210S	probably damaging	Het
Crb1	C	T	1: 139,337,084	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,523,844		probably benign	Het
Dhrs3	C	G	4: 144,927,176	S289W	probably damaging	Het
Dido1	T	G	2: 180,660,042	Q2023P	probably benign	Het
Dlg4	G	A	11: 70,042,705	G550R	probably damaging	Het
Dnah12	C	A	14: 26,800,013	H1928N	probably benign	Het
Dthd1	A	C	5: 62,839,410		probably benign	Het
Erg	C	A	16: 95,370,025	G269C	possibly damaging	Het
Erich6	G	A	3: 58,629,388		probably benign	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fancc	T	C	13: 63,331,842	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,231,179	K47*	probably null	Het
Flt4	A	G	11: 49,626,717	T289A	possibly damaging	Het
Gcnt2	T	A	13: 40,860,521	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,481,400	S437R	unknown	Het
Grin2a	T	A	16: 9,579,611	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,170,777	V439A	possibly damaging	Het
Hykk	A	T	9: 54,946,432	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,683,335	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,758,195	V110A	probably damaging	Het
Irak3	A	T	10: 120,145,637		probably benign	Het
Lamp5	T	A	2: 136,059,030	V50E	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrch3	C	T	16: 32,997,483	R570*	probably null	Het
Map1lc3a	T	C	2: 155,276,976	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,227,000	K655N	probably benign	Het
Mark2	A	G	19: 7,285,981		probably benign	Het
Mbtd1	G	A	11: 93,923,146	G205D	probably damaging	Het
Med13	T	C	11: 86,301,237	T861A	probably benign	Het
Meltf	T	A	16: 31,881,958	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,381,532	T617I	possibly damaging	Het
Muc13	G	A	16: 33,803,082	V249I	probably damaging	Het
Myo18a	C	A	11: 77,847,404	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,112,874		probably null	Het
Ncoa3	T	A	2: 166,069,191		probably benign	Het
Nf2	T	C	11: 4,820,409	T67A	probably benign	Het
Nin	A	G	12: 70,030,113	V1056A	probably benign	Het
Olfr1426	T	A	19: 12,088,119	R224S	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr59	A	T	11: 74,288,946	Q100L	probably damaging	Het
P3h1	T	C	4: 119,238,688	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,446,973	K79E	possibly damaging	Het
Pam	T	A	1: 97,864,362	R445*	probably null	Het
Piezo2	A	G	18: 63,041,723	Y1987H	probably damaging	Het
Plch2	G	A	4: 154,996,283	T477I	probably damaging	Het
Postn	G	A	3: 54,362,715	G72R	probably damaging	Het
Proca1	G	A	11: 78,201,802		probably benign	Het
Psip1	T	A	4: 83,463,588		probably benign	Het
Ptprd	G	A	4: 76,140,597	P153L	probably damaging	Het
Rgl1	T	C	1: 152,554,300	D242G	probably damaging	Het
Ric1	T	A	19: 29,594,818	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,627,444	C199S	probably damaging	Het
Sec24c	A	C	14: 20,693,745	D1006A	probably damaging	Het
Sec63	A	G	10: 42,796,208	T173A	probably benign	Het
Sfxn5	T	C	6: 85,267,865		probably benign	Het
Spam1	A	G	6: 24,796,949	I300V	probably benign	Het
Spem1	A	G	11: 69,821,271	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,748,123	R1959*	probably null	Het
Timeless	C	T	10: 128,250,060	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trim24	T	C	6: 37,919,465	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,710,193		probably benign	Het
Zbtb21	C	T	16: 97,952,627	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,064,899	T298A	probably 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
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
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

Predicted Primers

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

Sequencing Primer
(F):5'- AGTGTCTCTGACCCAGATTCG -3'
(R):5'- AGCTGTCCGTTGTCTGC -3'

Posted On

2013-09-03