Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:Pcdhb12'

506662

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, PcdhbL, Pcdhb5F

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37435621-37438654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37436839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 346 (V346A)

Ref Sequence

ENSEMBL: ENSMUSP00000050357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y07

Predicted Effect

probably benign
Transcript: ENSMUST00000055495
AA Change: V346A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: V346A

Domain	Start	End	E-Value	Type
CA	53	130	1.67e-1	SMART
CA	154	239	3.69e-23	SMART
CA	263	343	6.56e-29	SMART
CA	366	447	5.9e-22	SMART
CA	471	557	4.24e-23	SMART
CA	587	668	1.01e-11	SMART
Pfam:Cadherin_C_2	685	768	4.8e-26	PFAM
low complexity region	778	790	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000193015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193629

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,008,987	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,934,219	G650*	probably null	Het
Acsbg1	T	A	9: 54,628,467		probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
Ank2	C	T	3: 126,943,557	V2806I	probably benign	Het
Atxn10	A	T	15: 85,462,411	I457F	probably benign	Het
Cad	G	T	5: 31,066,800	M800I	probably null	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Ccz1	A	G	5: 144,004,041		probably null	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Cfap52	A	T	11: 67,938,954	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,694,848		probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddhd2	A	G	8: 25,752,117	F244L	probably benign	Het
Ddn	A	G	15: 98,805,854	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,162,702	V253L	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Foxd4	A	G	19: 24,899,604	S411P	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Galntl6	T	A	8: 57,884,481	D135V	probably damaging	Het
Gm1043	G	C	5: 37,174,472	G832A	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm21103	C	T	14: 6,303,847	E68K	probably damaging	Het
Gm340	A	T	19: 41,582,370	S1C	probably null	Het
Gm340	G	T	19: 41,582,371	S1I	possibly damaging	Het
Gpam	A	G	19: 55,083,406	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jak3	C	A	8: 71,679,310	Q177K	probably benign	Het
Kcnu1	G	A	8: 25,851,891	R88H	probably damaging	Het
Kng1	A	T	16: 23,058,621	I60F	possibly damaging	Het
Krt77	A	T	15: 101,864,372	Y257*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mefv	C	T	16: 3,713,034	R498H	probably benign	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,343,541	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,420,517	C126*	probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr694	A	T	7: 106,688,872	N286K	probably damaging	Het
Olfr808	C	A	10: 129,767,520	T8K	probably benign	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,165,291	I575N	probably benign	Het
Pnmal2	T	G	7: 16,946,233	W381G	probably benign	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,434,468	G266V	probably damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
St8sia2	T	A	7: 73,976,693	R42S	possibly damaging	Het
Syt9	G	T	7: 107,436,510	V245F	possibly damaging	Het
Tbpl2	T	A	2: 24,094,886	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Timm13	A	C	10: 80,900,301		probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ttc27	T	A	17: 74,858,091	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,216,647	S245*	probably null	Het
Ttc41	A	G	10: 86,731,159	E563G	probably benign	Het
Ttc41	A	T	10: 86,733,707	T650S	probably benign	Het
U2surp	A	C	9: 95,476,157	L723R	probably damaging	Het
Ubqln3	G	A	7: 104,142,317	Q189*	probably null	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Vmn2r79	T	A	7: 87,037,157	M582K	probably benign	Het
Zfp518a	A	G	19: 40,914,123	D832G	probably benign	Het
Zfyve28	T	C	5: 34,198,872	N762D	probably damaging	Het

Other mutations in Pcdhb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pcdhb12	APN	18	37436982	missense	probably benign	0.44
IGL01309:Pcdhb12	APN	18	37436154	missense	probably damaging	1.00
IGL01834:Pcdhb12	APN	18	37437639	missense	probably damaging	1.00
IGL01893:Pcdhb12	APN	18	37437210	missense	probably benign	0.01
IGL02617:Pcdhb12	APN	18	37437046	missense	probably benign	0.43
R0238:Pcdhb12	UTSW	18	37436727	missense	probably benign	0.00
R0238:Pcdhb12	UTSW	18	37436727	missense	probably benign	0.00
R0309:Pcdhb12	UTSW	18	37436121	missense	probably benign
R0392:Pcdhb12	UTSW	18	37436958	missense	possibly damaging	0.60
R0494:Pcdhb12	UTSW	18	37438095	missense	probably benign
R0531:Pcdhb12	UTSW	18	37437318	missense	probably damaging	1.00
R0571:Pcdhb12	UTSW	18	37437208	missense	probably damaging	1.00
R0737:Pcdhb12	UTSW	18	37437709	missense	probably damaging	1.00
R0882:Pcdhb12	UTSW	18	37437322	missense	probably damaging	1.00
R1253:Pcdhb12	UTSW	18	37435821	missense	possibly damaging	0.65
R1300:Pcdhb12	UTSW	18	37437397	missense	possibly damaging	0.45
R1334:Pcdhb12	UTSW	18	37436671	missense	probably damaging	0.98
R1424:Pcdhb12	UTSW	18	37438079	missense	probably benign
R1513:Pcdhb12	UTSW	18	37437058	missense	probably damaging	1.00
R1654:Pcdhb12	UTSW	18	37436701	missense	probably damaging	1.00
R1717:Pcdhb12	UTSW	18	37436788	missense	probably damaging	1.00
R1753:Pcdhb12	UTSW	18	37436671	missense	probably damaging	0.98
R1774:Pcdhb12	UTSW	18	37436442	missense	possibly damaging	0.52
R1893:Pcdhb12	UTSW	18	37437083	missense	probably benign	0.24
R1901:Pcdhb12	UTSW	18	37437630	missense	possibly damaging	0.67
R2114:Pcdhb12	UTSW	18	37436212	missense	probably damaging	1.00
R2264:Pcdhb12	UTSW	18	37436805	missense	probably damaging	0.99
R2915:Pcdhb12	UTSW	18	37437640	missense	probably damaging	1.00
R3689:Pcdhb12	UTSW	18	37436074	missense	probably benign	0.01
R3918:Pcdhb12	UTSW	18	37437048	missense	probably benign
R4621:Pcdhb12	UTSW	18	37437160	missense	probably benign
R4679:Pcdhb12	UTSW	18	37436949	missense	probably damaging	1.00
R4709:Pcdhb12	UTSW	18	37437495	missense	probably benign	0.08
R4904:Pcdhb12	UTSW	18	37437856	missense	possibly damaging	0.80
R4953:Pcdhb12	UTSW	18	37436156	missense	probably damaging	1.00
R5091:Pcdhb12	UTSW	18	37435854	nonsense	probably null
R5130:Pcdhb12	UTSW	18	37435824	missense	probably benign
R5204:Pcdhb12	UTSW	18	37436089	missense	probably damaging	0.99
R5361:Pcdhb12	UTSW	18	37437046	missense	probably damaging	1.00
R5417:Pcdhb12	UTSW	18	37436034	missense	probably benign	0.00
R5979:Pcdhb12	UTSW	18	37437991	missense	possibly damaging	0.94
R6117:Pcdhb12	UTSW	18	37435642	intron	probably benign
R6258:Pcdhb12	UTSW	18	37436839	missense	probably benign	0.00
R6270:Pcdhb12	UTSW	18	37436785	missense	possibly damaging	0.68
R6623:Pcdhb12	UTSW	18	37437658	missense	possibly damaging	0.54
R7288:Pcdhb12	UTSW	18	37436015	missense	probably benign	0.07
R7733:Pcdhb12	UTSW	18	37437036	missense	probably damaging	1.00
R7762:Pcdhb12	UTSW	18	37435924	missense	probably damaging	0.98
R8131:Pcdhb12	UTSW	18	37437282	missense	possibly damaging	0.91
R8331:Pcdhb12	UTSW	18	37437289	missense	probably damaging	1.00
R8483:Pcdhb12	UTSW	18	37437537	missense	possibly damaging	0.86
R8553:Pcdhb12	UTSW	18	37437634	missense	probably damaging	0.99
R8693:Pcdhb12	UTSW	18	37437421	missense	probably benign	0.31
R8821:Pcdhb12	UTSW	18	37437333	missense	probably benign	0.07
R8831:Pcdhb12	UTSW	18	37437333	missense	probably benign	0.07
R8950:Pcdhb12	UTSW	18	37437537	missense	probably benign	0.39
R9037:Pcdhb12	UTSW	18	37436176	missense	probably benign	0.00
R9272:Pcdhb12	UTSW	18	37437622	missense	probably damaging	1.00
R9782:Pcdhb12	UTSW	18	37437340	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGGGATGGATTATCTCAACC -3'
(R):5'- TGCCCAAATCCCAGACAGTG -3'

Sequencing Primer
(F):5'- AGGGGATGGATTATCTCAACCATTTG -3'
(R):5'- CCAAATCCCAGACAGTGATGGTG -3'

Posted On

2018-03-15