Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Pcdhb6'

567354

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

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

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37466913-37470491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37468531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 484 (H484L)

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: H484L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: H484L

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: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,259 (GRCm39)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,899 (GRCm39)	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949 (GRCm39)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 79,865,016 (GRCm39)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
B4galnt3	T	C	6: 120,192,392 (GRCm39)	D448G	probably benign	Het
Capn1	C	G	19: 6,043,938 (GRCm39)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,349,384 (GRCm39)	S474P	probably benign	Het
Cdk12	T	A	11: 98,140,626 (GRCm39)	L1289*	probably null	Het
Cramp1	A	T	17: 25,193,719 (GRCm39)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,345,143 (GRCm39)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,273,960 (GRCm39)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,396,983 (GRCm39)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,381,601 (GRCm39)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,040,976 (GRCm39)	I932S	probably benign	Het
Frk	T	A	10: 34,467,934 (GRCm39)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,109,349 (GRCm39)	R25C	unknown	Het
Gpat2	T	A	2: 127,276,810 (GRCm39)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,229,672 (GRCm39)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm39)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,314,833 (GRCm39)	S69N	probably damaging	Het
Hid1	A	C	11: 115,239,308 (GRCm39)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,233,093 (GRCm39)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,527,085 (GRCm39)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,554,851 (GRCm39)	R649Q	probably benign	Het
Kif17	A	T	4: 137,989,954 (GRCm39)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,279,896 (GRCm39)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,747,299 (GRCm39)	S3342T	unknown	Het
Krt82	A	G	15: 101,451,342 (GRCm39)	C356R	probably damaging	Het
Lrit2	A	G	14: 36,794,156 (GRCm39)	K407E	probably benign	Het
Malt1	T	A	18: 65,584,640 (GRCm39)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 100,125,108 (GRCm39)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,791,103 (GRCm39)		probably null	Het
Mindy2	T	G	9: 70,518,241 (GRCm39)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,020,953 (GRCm39)	E480G	probably benign	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Or13a26	G	A	7: 140,285,060 (GRCm39)	V299I	probably benign	Het
Or1j4	G	A	2: 36,740,137 (GRCm39)	M26I	probably benign	Het
Or4g7	A	T	2: 111,309,105 (GRCm39)		probably benign	Het
Or52a20	G	T	7: 103,366,173 (GRCm39)	R124L	probably damaging	Het
Phldb1	T	C	9: 44,605,344 (GRCm39)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 71,961,790 (GRCm39)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,638,118 (GRCm39)		probably null	Het
Polr3a	A	G	14: 24,510,055 (GRCm39)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Pramel11	A	C	4: 143,623,345 (GRCm39)	Y276*	probably null	Het
Pramel51	A	C	12: 88,148,519 (GRCm39)	C32W	probably damaging	Het
Psmc4	A	G	7: 27,742,085 (GRCm39)	V303A	probably benign	Het
Ptdss2	A	G	7: 140,731,645 (GRCm39)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,465,004 (GRCm39)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,324,283 (GRCm39)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,331,993 (GRCm39)	Y183*	probably null	Het
Rnd1	T	C	15: 98,568,680 (GRCm39)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,464,953 (GRCm39)	C282S	probably damaging	Het
S100b	G	A	10: 76,092,926 (GRCm39)	G20R	probably benign	Het
Sae1	G	T	7: 16,102,469 (GRCm39)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm39)	G1554*	probably null	Het
Samhd1	T	C	2: 156,976,940 (GRCm39)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,421,512 (GRCm39)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,710,986 (GRCm39)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,024,151 (GRCm39)	N67K	probably benign	Het
Smarca4	T	A	9: 21,550,096 (GRCm39)	I402N	probably damaging	Het
St7l	T	C	3: 104,796,669 (GRCm39)	F261L	probably benign	Het
Syde2	T	A	3: 145,721,553 (GRCm39)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,494,788 (GRCm39)	I251N	probably damaging	Het
Taok2	T	C	7: 126,465,990 (GRCm39)	E916G	probably damaging	Het
Tecta	A	G	9: 42,289,288 (GRCm39)	S426P	probably damaging	Het
Thra	T	C	11: 98,655,134 (GRCm39)	I338T	probably damaging	Het
Trub1	A	T	19: 57,461,135 (GRCm39)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,691 (GRCm39)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,567,981 (GRCm39)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,301,682 (GRCm39)	Y100H	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
R6154:Pcdhb6	UTSW	18	37,467,966 (GRCm39)	missense	probably benign	0.00
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
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'- AGTCTCCGATTTGGGCACAC -3'
(R):5'- GTCATTGTCATCCAGCACCAC -3'

Sequencing Primer
(F):5'- GGCACACCCAGGCTCAC -3'
(R):5'- AGAGCCTGGCTGCTGAG -3'

Posted On

2019-06-26