Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Pcdhb12'

66152

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, Pcdhb5F, PcdhbL

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

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

Stock #

R0238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37568674-37571707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37569780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 309 (I309V)

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: I309V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: I309V

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

0.0824

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 76.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gm20422	T	C	8: 70,219,365 (GRCm39)	Y53C	probably damaging	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	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
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

Predicted Primers

Posted On

2013-08-19