Mutagenetix > Incidental Mutation

Incidental Mutation 'R6154:Pcdhb6'

489486

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

MMRRC Submission

044301-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37466913-37470491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37467966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 296 (I296V)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

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

AlphaFold

Q91XZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000061717
AA Change: I296V

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

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: I296V

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,959,210 (GRCm39)	I79L	probably benign	Het
Adam6a	C	T	12: 113,509,292 (GRCm39)	T555I	probably benign	Het
Adap1	A	G	5: 139,293,531 (GRCm39)	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Angpt1	T	C	15: 42,387,051 (GRCm39)	E101G	probably damaging	Het
Asxl2	T	C	12: 3,546,593 (GRCm39)	V459A	possibly damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Camta2	G	A	11: 70,569,211 (GRCm39)	A578V	probably damaging	Het
Cdc16	A	G	8: 13,818,609 (GRCm39)	N316D	possibly damaging	Het
Chrm3	T	A	13: 9,928,476 (GRCm39)	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,294,481 (GRCm39)	T367A	probably benign	Het
Clcn7	T	C	17: 25,376,928 (GRCm39)	S654P	probably damaging	Het
Col6a3	T	A	1: 90,701,387 (GRCm39)	T2510S	unknown	Het
Crisp4	T	C	1: 18,193,012 (GRCm39)	E192G	possibly damaging	Het
Dmbt1	T	A	7: 130,711,370 (GRCm39)		probably null	Het
Dnah5	T	G	15: 28,204,177 (GRCm39)	L18R	probably benign	Het
Dnah9	T	G	11: 65,746,164 (GRCm39)	D3983A	probably benign	Het
Dock5	C	A	14: 68,097,361 (GRCm39)	V71L	probably benign	Het
Dync1h1	T	C	12: 110,584,427 (GRCm39)	V610A	probably damaging	Het
Dynlrb2	A	G	8: 117,242,428 (GRCm39)	Y86C	probably benign	Het
Ep400	T	C	5: 110,903,799 (GRCm39)	I267V	probably damaging	Het
Gaa	A	G	11: 119,169,178 (GRCm39)	Y575C	probably damaging	Het
Gm8094	T	A	14: 42,934,020 (GRCm39)	D24V	probably benign	Het
Grina	T	C	15: 76,133,087 (GRCm39)	I244T	possibly damaging	Het
Haus6	A	G	4: 86,501,993 (GRCm39)	L626P	possibly damaging	Het
Hexd	A	T	11: 121,112,097 (GRCm39)	H439L	probably benign	Het
Ifna12	A	T	4: 88,521,531 (GRCm39)	C5*	probably null	Het
Igf2bp2	G	T	16: 21,894,843 (GRCm39)	S300*	probably null	Het
Ighv6-5	T	C	12: 114,380,362 (GRCm39)	R71G	probably benign	Het
Lrrc37	A	G	11: 103,504,969 (GRCm39)	V2333A	probably benign	Het
Lrrn4cl	T	C	19: 8,829,252 (GRCm39)	S77P	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mink1	T	C	11: 70,500,927 (GRCm39)	V831A	possibly damaging	Het
Mme	T	A	3: 63,207,674 (GRCm39)	I40N	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Ncbp3	T	A	11: 72,940,700 (GRCm39)	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,534,104 (GRCm39)	I349F	possibly damaging	Het
Nek11	A	T	9: 105,200,368 (GRCm39)	*81K	probably null	Het
Nrip1	A	G	16: 76,090,718 (GRCm39)	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,476,788 (GRCm39)	D722G	probably benign	Het
Or10ag55-ps1	T	G	2: 87,139,902 (GRCm39)	S256R	probably benign	Het
Or2m12	A	T	16: 19,105,181 (GRCm39)	I104K	probably damaging	Het
Or4c29	A	G	2: 88,740,734 (GRCm39)	M1T	probably null	Het
Or5i1	A	G	2: 87,613,100 (GRCm39)	D72G	possibly damaging	Het
Or6c7	C	T	10: 129,323,545 (GRCm39)	T222I	probably damaging	Het
Pcnx2	G	T	8: 126,489,552 (GRCm39)	L1681M	probably damaging	Het
Pdlim5	T	C	3: 141,983,674 (GRCm39)	R360G	possibly damaging	Het
Peli2	C	T	14: 48,488,051 (GRCm39)	Q81*	probably null	Het
Pitpnb	C	T	5: 111,486,263 (GRCm39)	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,603 (GRCm39)	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,471,989 (GRCm39)	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,516,542 (GRCm39)	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,462,339 (GRCm39)	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981 (GRCm39)	R89S	probably benign	Het
Slc7a12	A	G	3: 14,546,094 (GRCm39)	R80G	probably damaging	Het
Smok3c	T	A	5: 138,062,747 (GRCm39)	M78K	probably benign	Het
Stk10	T	A	11: 32,553,654 (GRCm39)		probably null	Het
Tada2b	A	G	5: 36,634,008 (GRCm39)	V190A	probably damaging	Het
Tnk1	C	T	11: 69,747,780 (GRCm39)	V41I	probably damaging	Het
Tpr	T	A	1: 150,299,567 (GRCm39)	V1146E	probably benign	Het
Trappc9	T	C	15: 72,929,930 (GRCm39)	D142G	probably benign	Het
Trpm3	T	C	19: 22,965,178 (GRCm39)	Y1558H	probably damaging	Het
Unc5c	C	A	3: 141,383,914 (GRCm39)	S97R	probably damaging	Het
Vmn1r172	T	C	7: 23,359,583 (GRCm39)	I156T	probably damaging	Het
Vmn2r51	A	T	7: 9,821,921 (GRCm39)	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,304,119 (GRCm39)	E117D	probably damaging	Het
Zfp451	A	T	1: 33,842,627 (GRCm39)		probably benign	Het
Zfp534	C	A	4: 147,759,145 (GRCm39)	R508I	probably benign	Het
Zp3r	C	T	1: 130,526,642 (GRCm39)	C187Y	probably damaging	Het

Other mutations in Pcdhb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pcdhb6	APN	18	37,467,277 (GRCm39)	missense	probably damaging	1.00
IGL02123:Pcdhb6	APN	18	37,468,873 (GRCm39)	missense	probably damaging	1.00
IGL02491:Pcdhb6	APN	18	37,468,735 (GRCm39)	missense	probably damaging	1.00
IGL02496:Pcdhb6	APN	18	37,468,507 (GRCm39)	missense	probably damaging	1.00
IGL02608:Pcdhb6	APN	18	37,467,747 (GRCm39)	missense	probably damaging	0.99
IGL03130:Pcdhb6	APN	18	37,468,640 (GRCm39)	nonsense	probably null
IGL03144:Pcdhb6	APN	18	37,467,459 (GRCm39)	missense	probably damaging	1.00
IGL03189:Pcdhb6	APN	18	37,469,205 (GRCm39)	missense	probably damaging	0.98
IGL03203:Pcdhb6	APN	18	37,467,585 (GRCm39)	missense	possibly damaging	0.95
IGL03388:Pcdhb6	APN	18	37,469,190 (GRCm39)	missense	probably damaging	0.99
PIT4445001:Pcdhb6	UTSW	18	37,468,300 (GRCm39)	missense	possibly damaging	0.67
R0571:Pcdhb6	UTSW	18	37,468,167 (GRCm39)	missense	probably benign	0.01
R0734:Pcdhb6	UTSW	18	37,468,387 (GRCm39)	missense	probably damaging	0.99
R1727:Pcdhb6	UTSW	18	37,467,640 (GRCm39)	missense	probably damaging	1.00
R2206:Pcdhb6	UTSW	18	37,468,633 (GRCm39)	missense	probably benign	0.10
R2207:Pcdhb6	UTSW	18	37,468,633 (GRCm39)	missense	probably benign	0.10
R2303:Pcdhb6	UTSW	18	37,469,284 (GRCm39)	missense	probably damaging	1.00
R2401:Pcdhb6	UTSW	18	37,468,222 (GRCm39)	missense	probably benign	0.35
R3409:Pcdhb6	UTSW	18	37,468,945 (GRCm39)	missense	probably damaging	1.00
R3411:Pcdhb6	UTSW	18	37,468,945 (GRCm39)	missense	probably damaging	1.00
R3625:Pcdhb6	UTSW	18	37,469,193 (GRCm39)	missense	probably damaging	1.00
R3716:Pcdhb6	UTSW	18	37,469,259 (GRCm39)	missense	probably benign	0.01
R4745:Pcdhb6	UTSW	18	37,468,426 (GRCm39)	missense	possibly damaging	0.86
R4821:Pcdhb6	UTSW	18	37,467,381 (GRCm39)	missense	probably damaging	1.00
R5218:Pcdhb6	UTSW	18	37,467,388 (GRCm39)	missense	possibly damaging	0.95
R5465:Pcdhb6	UTSW	18	37,467,783 (GRCm39)	missense	probably damaging	0.97
R5522:Pcdhb6	UTSW	18	37,467,402 (GRCm39)	missense	probably benign
R5556:Pcdhb6	UTSW	18	37,467,442 (GRCm39)	missense	probably damaging	1.00
R5703:Pcdhb6	UTSW	18	37,467,753 (GRCm39)	missense	probably benign	0.15
R6256:Pcdhb6	UTSW	18	37,468,978 (GRCm39)	missense	probably damaging	0.98
R6304:Pcdhb6	UTSW	18	37,468,974 (GRCm39)	nonsense	probably null
R6528:Pcdhb6	UTSW	18	37,467,556 (GRCm39)	missense	probably damaging	1.00
R6883:Pcdhb6	UTSW	18	37,468,198 (GRCm39)	missense	probably damaging	1.00
R7045:Pcdhb6	UTSW	18	37,469,329 (GRCm39)	missense	possibly damaging	0.88
R7307:Pcdhb6	UTSW	18	37,468,531 (GRCm39)	missense	probably benign
R7313:Pcdhb6	UTSW	18	37,468,261 (GRCm39)	missense	probably damaging	0.99
R7378:Pcdhb6	UTSW	18	37,468,225 (GRCm39)	missense	probably damaging	1.00
R7555:Pcdhb6	UTSW	18	37,468,332 (GRCm39)	missense	possibly damaging	0.60
R7606:Pcdhb6	UTSW	18	37,468,659 (GRCm39)	missense	probably damaging	0.99
R7701:Pcdhb6	UTSW	18	37,467,562 (GRCm39)	missense	probably damaging	1.00
R7830:Pcdhb6	UTSW	18	37,469,365 (GRCm39)	missense	probably benign	0.05
R7905:Pcdhb6	UTSW	18	37,467,607 (GRCm39)	missense	probably benign	0.00
R7982:Pcdhb6	UTSW	18	37,467,273 (GRCm39)	nonsense	probably null
R8818:Pcdhb6	UTSW	18	37,468,837 (GRCm39)	missense	probably benign	0.06
R8917:Pcdhb6	UTSW	18	37,468,431 (GRCm39)	missense	possibly damaging	0.92
R9397:Pcdhb6	UTSW	18	37,469,353 (GRCm39)	missense	probably benign	0.00
Z1088:Pcdhb6	UTSW	18	37,468,199 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACTACCACTGTTCGAATTG -3'
(R):5'- TTCTGGGATGGAACTAGTGAGC -3'

Sequencing Primer
(F):5'- GTCGTGGACATCAATGATAATGCCC -3'
(R):5'- TGAGCGAAGAGATGGTGAGTTTAG -3'

Posted On

2017-10-10