Mutagenetix > Incidental Mutations

Incidental Mutation 'R7905:Pcdhb6'

610244

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37334554 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 176 (L176P)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061717
AA Change: L176P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: L176P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,296,102	I358T	probably benign	Het
Actl9	T	C	17: 33,433,827	V287A	possibly damaging	Het
Adcy10	T	A	1: 165,513,168		probably null	Het
Aox1	G	A	1: 58,104,398	S1225N	possibly damaging	Het
B430306N03Rik	T	A	17: 48,316,960	S96R	probably benign	Het
Bpifa5	T	C	2: 154,165,588	I150T	probably damaging	Het
Ccdc28a	A	T	10: 18,218,328	V181D	probably benign	Het
Cd40	T	C	2: 165,062,325	Y31H	probably damaging	Het
Cep290	A	G	10: 100,554,490	T2032A	probably benign	Het
Cnbd1	T	C	4: 18,907,100	K158R	possibly damaging	Het
Degs1	A	C	1: 182,279,036	N255K	possibly damaging	Het
Dirc2	G	A	16: 35,768,950	P98S	probably benign	Het
Dll3	T	G	7: 28,301,535	I32L	possibly damaging	Het
Dsg4	A	T	18: 20,454,669	I278F	probably damaging	Het
Ets2	T	A	16: 95,706,437	I6N	probably damaging	Het
Gbp4	A	G	5: 105,121,087	F400S	probably damaging	Het
Golgb1	C	T	16: 36,913,685	A1139V	probably benign	Het
Hfm1	A	T	5: 106,898,553	L489H	probably damaging	Het
Kcna5	T	C	6: 126,534,868	D99G	probably benign	Het
Ldhc	A	G	7: 46,875,531		probably null	Het
Mief1	C	G	15: 80,249,398	P219A	probably damaging	Het
Myh11	A	T	16: 14,207,681	Y1408*	probably null	Het
Myo1b	A	G	1: 51,763,884		probably null	Het
Nedd4	A	T	9: 72,677,379	K121*	probably null	Het
Nek9	A	C	12: 85,305,596	M831R	probably damaging	Het
Nf1	G	A	11: 79,547,112	A83T	possibly damaging	Het
Olfr772	A	T	10: 129,174,187	I278N	probably damaging	Het
Osbpl10	T	C	9: 115,062,010		probably null	Het
Plxnb1	G	A	9: 109,109,232	V1285M	probably damaging	Het
Psg26	T	A	7: 18,475,317	M389L	probably benign	Het
Slc4a10	A	G	2: 62,268,151	E543G	probably damaging	Het
Spink7	G	T	18: 62,592,416	C85*	probably null	Het
Stard9	T	C	2: 120,696,081	W940R	not run	Het
Susd2	A	T	10: 75,639,657	L471*	probably null	Het
Taf2	A	T	15: 55,047,432	D615E	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tfdp2	T	C	9: 96,310,606	S14P		Het
Tha1	A	C	11: 117,871,067	V116G	possibly damaging	Het
Trim46	T	C	3: 89,244,326	H50R	probably damaging	Het
Trit1	A	G	4: 123,016,715	K36E	probably damaging	Het
Ttc13	A	T	8: 124,688,596	M268K	probably benign	Het
Ufc1	T	A	1: 171,289,935	K68N	probably damaging	Het
Zbbx	T	C	3: 75,085,513	T225A	probably benign	Het
Zfp768	T	C	7: 127,344,659	E102G	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
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
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
Z1088:Pcdhb6	UTSW	18	37335146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCTGCACTTCCAGATC -3'
(R):5'- GATGTCCACGACTTCAATTCGAAC -3'

Sequencing Primer
(F):5'- GTGCTGCACTTCCAGATCATACTAG -3'
(R):5'- TCAATTCGAACAGTGGTAGTCCCAG -3'

Posted On

2019-12-20