Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02617:Pcdhb12'

300693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, Pcdhb5F, PcdhbL

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

37568674-37571707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37570099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 415 (V415A)

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: V415A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: V415A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,394,807 (GRCm39)	Q172*	probably null	Het
Adgrg5	A	G	8: 95,660,610 (GRCm39)	D79G	probably benign	Het
Aga	G	A	8: 53,973,348 (GRCm39)	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,318,397 (GRCm39)	Q170R	probably null	Het
Cdh2	T	A	18: 16,760,661 (GRCm39)	N512Y	probably damaging	Het
Chd8	A	G	14: 52,472,648 (GRCm39)	I385T	probably benign	Het
Clic6	A	G	16: 92,296,206 (GRCm39)	K289E	probably benign	Het
Ctcf	G	T	8: 106,403,842 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,488,628 (GRCm39)	Y3447H	probably benign	Het
Fhip1a	A	T	3: 85,580,344 (GRCm39)	D620E	probably benign	Het
Fmo2	T	A	1: 162,704,490 (GRCm39)	Q472L	probably damaging	Het
Gcnt3	C	A	9: 69,941,444 (GRCm39)	G375W	probably damaging	Het
Golga3	T	A	5: 110,336,612 (GRCm39)	V417E	probably benign	Het
Hivep3	T	C	4: 119,952,641 (GRCm39)	L319P	probably benign	Het
Kctd13	A	G	7: 126,541,504 (GRCm39)	K248R	possibly damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Niban1	T	A	1: 151,447,296 (GRCm39)	S6T	probably benign	Het
Nmt2	A	G	2: 3,315,750 (GRCm39)	I247V	probably benign	Het
Or14a256	T	G	7: 86,264,872 (GRCm39)	H327P	probably benign	Het
Or1e30	T	A	11: 73,678,560 (GRCm39)	N265K	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prr27	T	A	5: 87,990,518 (GRCm39)	N43K	probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sec24a	A	T	11: 51,603,014 (GRCm39)		probably null	Het
Srek1ip1	C	A	13: 104,973,984 (GRCm39)	H130Q	possibly damaging	Het
Trio	C	T	15: 27,841,935 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,608,614 (GRCm39)		probably benign	Het
Vmn2r65	C	A	7: 84,589,549 (GRCm39)	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,192,399 (GRCm39)	Q448R	probably damaging	Het

Other mutations in Pcdhb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pcdhb12	APN	18	37,570,035 (GRCm39)	missense	probably benign	0.44
IGL01309:Pcdhb12	APN	18	37,569,207 (GRCm39)	missense	probably damaging	1.00
IGL01834:Pcdhb12	APN	18	37,570,692 (GRCm39)	missense	probably damaging	1.00
IGL01893:Pcdhb12	APN	18	37,570,263 (GRCm39)	missense	probably benign	0.01
R0238:Pcdhb12	UTSW	18	37,569,780 (GRCm39)	missense	probably benign	0.00
R0238:Pcdhb12	UTSW	18	37,569,780 (GRCm39)	missense	probably benign	0.00
R0309:Pcdhb12	UTSW	18	37,569,174 (GRCm39)	missense	probably benign
R0392:Pcdhb12	UTSW	18	37,570,011 (GRCm39)	missense	possibly damaging	0.60
R0494:Pcdhb12	UTSW	18	37,571,148 (GRCm39)	missense	probably benign
R0531:Pcdhb12	UTSW	18	37,570,371 (GRCm39)	missense	probably damaging	1.00
R0571:Pcdhb12	UTSW	18	37,570,261 (GRCm39)	missense	probably damaging	1.00
R0737:Pcdhb12	UTSW	18	37,570,762 (GRCm39)	missense	probably damaging	1.00
R0882:Pcdhb12	UTSW	18	37,570,375 (GRCm39)	missense	probably damaging	1.00
R1253:Pcdhb12	UTSW	18	37,568,874 (GRCm39)	missense	possibly damaging	0.65
R1300:Pcdhb12	UTSW	18	37,570,450 (GRCm39)	missense	possibly damaging	0.45
R1334:Pcdhb12	UTSW	18	37,569,724 (GRCm39)	missense	probably damaging	0.98
R1424:Pcdhb12	UTSW	18	37,571,132 (GRCm39)	missense	probably benign
R1513:Pcdhb12	UTSW	18	37,570,111 (GRCm39)	missense	probably damaging	1.00
R1654:Pcdhb12	UTSW	18	37,569,754 (GRCm39)	missense	probably damaging	1.00
R1717:Pcdhb12	UTSW	18	37,569,841 (GRCm39)	missense	probably damaging	1.00
R1753:Pcdhb12	UTSW	18	37,569,724 (GRCm39)	missense	probably damaging	0.98
R1774:Pcdhb12	UTSW	18	37,569,495 (GRCm39)	missense	possibly damaging	0.52
R1893:Pcdhb12	UTSW	18	37,570,136 (GRCm39)	missense	probably benign	0.24
R1901:Pcdhb12	UTSW	18	37,570,683 (GRCm39)	missense	possibly damaging	0.67
R2114:Pcdhb12	UTSW	18	37,569,265 (GRCm39)	missense	probably damaging	1.00
R2264:Pcdhb12	UTSW	18	37,569,858 (GRCm39)	missense	probably damaging	0.99
R2915:Pcdhb12	UTSW	18	37,570,693 (GRCm39)	missense	probably damaging	1.00
R3689:Pcdhb12	UTSW	18	37,569,127 (GRCm39)	missense	probably benign	0.01
R3918:Pcdhb12	UTSW	18	37,570,101 (GRCm39)	missense	probably benign
R4621:Pcdhb12	UTSW	18	37,570,213 (GRCm39)	missense	probably benign
R4679:Pcdhb12	UTSW	18	37,570,002 (GRCm39)	missense	probably damaging	1.00
R4709:Pcdhb12	UTSW	18	37,570,548 (GRCm39)	missense	probably benign	0.08
R4904:Pcdhb12	UTSW	18	37,570,909 (GRCm39)	missense	possibly damaging	0.80
R4953:Pcdhb12	UTSW	18	37,569,209 (GRCm39)	missense	probably damaging	1.00
R5091:Pcdhb12	UTSW	18	37,568,907 (GRCm39)	nonsense	probably null
R5130:Pcdhb12	UTSW	18	37,568,877 (GRCm39)	missense	probably benign
R5204:Pcdhb12	UTSW	18	37,569,142 (GRCm39)	missense	probably damaging	0.99
R5361:Pcdhb12	UTSW	18	37,570,099 (GRCm39)	missense	probably damaging	1.00
R5417:Pcdhb12	UTSW	18	37,569,087 (GRCm39)	missense	probably benign	0.00
R5979:Pcdhb12	UTSW	18	37,571,044 (GRCm39)	missense	possibly damaging	0.94
R6117:Pcdhb12	UTSW	18	37,568,695 (GRCm39)	intron	probably benign
R6258:Pcdhb12	UTSW	18	37,569,892 (GRCm39)	missense	probably benign	0.00
R6260:Pcdhb12	UTSW	18	37,569,892 (GRCm39)	missense	probably benign	0.00
R6270:Pcdhb12	UTSW	18	37,569,838 (GRCm39)	missense	possibly damaging	0.68
R6623:Pcdhb12	UTSW	18	37,570,711 (GRCm39)	missense	possibly damaging	0.54
R7288:Pcdhb12	UTSW	18	37,569,068 (GRCm39)	missense	probably benign	0.07
R7733:Pcdhb12	UTSW	18	37,570,089 (GRCm39)	missense	probably damaging	1.00
R7762:Pcdhb12	UTSW	18	37,568,977 (GRCm39)	missense	probably damaging	0.98
R8131:Pcdhb12	UTSW	18	37,570,335 (GRCm39)	missense	possibly damaging	0.91
R8331:Pcdhb12	UTSW	18	37,570,342 (GRCm39)	missense	probably damaging	1.00
R8483:Pcdhb12	UTSW	18	37,570,590 (GRCm39)	missense	possibly damaging	0.86
R8553:Pcdhb12	UTSW	18	37,570,687 (GRCm39)	missense	probably damaging	0.99
R8693:Pcdhb12	UTSW	18	37,570,474 (GRCm39)	missense	probably benign	0.31
R8821:Pcdhb12	UTSW	18	37,570,386 (GRCm39)	missense	probably benign	0.07
R8831:Pcdhb12	UTSW	18	37,570,386 (GRCm39)	missense	probably benign	0.07
R8950:Pcdhb12	UTSW	18	37,570,590 (GRCm39)	missense	probably benign	0.39
R9037:Pcdhb12	UTSW	18	37,569,229 (GRCm39)	missense	probably benign	0.00
R9272:Pcdhb12	UTSW	18	37,570,675 (GRCm39)	missense	probably damaging	1.00
R9782:Pcdhb12	UTSW	18	37,570,393 (GRCm39)	frame shift	probably null

Posted On

2015-04-16