Mutagenetix > Incidental Mutation

Incidental Mutation 'R0737:Pcdhb12'

70548

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, PcdhbL, Pcdhb5F

MMRRC Submission

038918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37435621-37438654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37437709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 636 (V636D)

Ref Sequence

ENSEMBL: ENSMUSP00000050357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y07

Predicted Effect

probably damaging
Transcript: ENSMUST00000055495
AA Change: V636D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: V636D

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: ENSMUST00000056915

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	58	130	5.5e-1	SMART
CA	154	239	8.55e-19	SMART
CA	263	343	3.36e-26	SMART
CA	366	447	2.24e-22	SMART
CA	471	557	1.08e-24	SMART
CA	587	668	1.25e-11	SMART
Pfam:Cadherin_C_2	685	768	2.4e-23	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

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	T	A	X: 70,394,207		probably benign	Het
4932429P05Rik	A	G	X: 89,754,320	H586R	probably benign	Het
9130409I23Rik	G	A	1: 181,055,379	M235I	probably benign	Het
Aff4	T	A	11: 53,410,953	L1043*	probably null	Het
Ankrd11	G	T	8: 122,895,836	R426S	probably damaging	Het
Atm	T	A	9: 53,456,566	N2422I	probably damaging	Het
Bahcc1	C	A	11: 120,272,841	P655Q	probably damaging	Het
Baz2a	A	G	10: 128,116,080	I556V	possibly damaging	Het
BC017643	C	T	11: 121,227,242		probably null	Het
Ccdc33	T	C	9: 58,082,048	D114G	probably damaging	Het
Cdk5rap2	T	C	4: 70,337,375	H424R	probably benign	Het
Cfap57	T	C	4: 118,581,102	E864G	possibly damaging	Het
Cit	T	A	5: 115,946,919	S836R	probably damaging	Het
Clip4	C	T	17: 71,837,699	Q95*	probably null	Het
Col17a1	C	T	19: 47,669,433	G433S	possibly damaging	Het
Col6a3	A	G	1: 90,828,298	F90L	probably damaging	Het
Dnah9	T	C	11: 66,107,898	H1108R	probably damaging	Het
Elac1	A	T	18: 73,739,039	M295K	probably damaging	Het
Epas1	G	T	17: 86,829,456	G816C	possibly damaging	Het
Ermap	C	A	4: 119,178,510	C427F	probably damaging	Het
Fbxo44	T	C	4: 148,158,809		probably benign	Het
Fmo4	T	A	1: 162,808,392	K14*	probably null	Het
Gadl1	G	A	9: 116,073,987	M461I	probably damaging	Het
Garnl3	T	A	2: 32,990,642	I868F	probably damaging	Het
Gm6614	G	T	6: 142,003,428	A74E	possibly damaging	Het
Gm7168	A	G	17: 13,948,983	D204G	probably damaging	Het
Hs6st3	T	C	14: 119,869,383	F401S	possibly damaging	Het
Kcnmb1	A	T	11: 33,964,701	M1L	probably benign	Het
Krt35	T	C	11: 100,093,794	T292A	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lamb2	T	A	9: 108,483,794	W572R	probably benign	Het
Letmd1	A	G	15: 100,469,821	T87A	probably damaging	Het
Lrp2	A	G	2: 69,448,169	Y3947H	probably damaging	Het
Mocos	T	C	18: 24,688,987	F685L	probably damaging	Het
Nsun6	A	T	2: 14,996,474	F424I	probably damaging	Het
Nup88	A	G	11: 70,969,950	M1T	probably null	Het
Olfr1209	T	C	2: 88,910,273	N40S	probably damaging	Het
Olfr1339	C	T	4: 118,735,224	R232C	probably benign	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Pclo	C	A	5: 14,515,439	A73E	probably damaging	Het
Pdlim7	A	T	13: 55,504,880		probably null	Het
Phldb1	G	A	9: 44,699,636	P67S	possibly damaging	Het
Ppp2r2b	T	C	18: 43,059,192	T17A	probably benign	Het
Rab11fip4	T	C	11: 79,683,502	V241A	probably benign	Het
Slc41a1	T	C	1: 131,840,952	L216P	probably damaging	Het
Smg6	T	A	11: 75,159,836	D1352E	probably damaging	Het
Tbc1d9	A	T	8: 83,259,313	I816F	probably damaging	Het
Tex264	T	C	9: 106,659,299	T220A	probably benign	Het
Tmco6	G	A	18: 36,741,776	V439I	probably damaging	Het
Tmem64	A	G	4: 15,266,717	I256V	probably damaging	Het
Tnks1bp1	A	G	2: 85,052,536	S236G	possibly damaging	Het
Tsc1	A	G	2: 28,670,930	T267A	possibly damaging	Het
Txndc2	A	G	17: 65,639,553		probably null	Het
Vmn2r94	G	A	17: 18,277,433	Q26*	probably null	Het
Zan	T	C	5: 137,389,249	D4900G	unknown	Het
Zkscan3	T	C	13: 21,388,596	T122A	probably benign	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
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
R6260: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'- TTTCGTGCTCTACCCGATGCAG -3'
(R):5'- TGCCAAGGCAACGACTAGGTACAG -3'

Sequencing Primer
(F):5'- TGGATACCTGATCACCAAAGTG -3'
(R):5'- GCGTGAGCACGTCATAATC -3'

Posted On

2013-09-30