Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Pcdhb12'

254870

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, PcdhbL, Pcdhb5F

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

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

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37435621-37438654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37437640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 613 (N613I)

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: N613I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: N613I

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

Meta Mutation Damage Score

0.1919

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
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'- CAATGACAATTCACCTTTCGTGC -3'
(R):5'- CACGTCATAATCGTCCTGCG -3'

Sequencing Primer
(F):5'- TGCTCTACCCGATGCAGAATG -3'
(R):5'- TCCTGCGTGGAATCCCG -3'

Posted On

2014-12-29