Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Pcdhb12'

349964

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, Pcdhb5F, PcdhbL

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

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

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37568674-37571707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37570002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 383 (F383L)

Ref Sequence

ENSEMBL: ENSMUSP00000050357 (fasta)

Gene Model

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

AlphaFold

Q91Y07

Predicted Effect

probably damaging
Transcript: ENSMUST00000055495
AA Change: F383L

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

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: F383L

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

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	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
IGL02617:Pcdhb12	APN	18	37,570,099 (GRCm39)	missense	probably benign	0.43
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCAGGAAAATGCACTGTGG -3'
(R):5'- TTGTTCTCTTGCACAAACAGGG -3'

Sequencing Primer
(F):5'- CAGGAAAATGCACTGTGGTTATAC -3'
(R):5'- GTTCTCTTGCACAAACAGGGTATAGG -3'

Posted On

2015-10-08