Mutagenetix > Incidental Mutation

Incidental Mutation 'R1774:Pcdhb12'

196978

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, Pcdhb5F, PcdhbL

MMRRC Submission

039805-MU

Accession Numbers

Essential gene?

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

Stock #

R1774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37568674-37571707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37569495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 214 (P214S)

Ref Sequence

ENSEMBL: ENSMUSP00000050357 (fasta)

Gene Model

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

AlphaFold

Q91Y07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055495
AA Change: P214S

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: P214S

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

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,982,351 (GRCm39)	V312A	probably damaging	Het
2810408A11Rik	A	G	11: 69,791,453 (GRCm39)	V42A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt1	T	A	15: 42,387,012 (GRCm39)	Q114L	probably damaging	Het
Apc2	T	C	10: 80,144,964 (GRCm39)	I625T	probably damaging	Het
Atg2a	T	C	19: 6,300,628 (GRCm39)	V735A	probably benign	Het
Birc6	T	A	17: 74,947,008 (GRCm39)	I2909N	probably damaging	Het
C7	C	G	15: 5,041,557 (GRCm39)	D450H	probably damaging	Het
Cachd1	C	T	4: 100,821,632 (GRCm39)	T403I	probably damaging	Het
Cachd1	T	A	4: 100,824,240 (GRCm39)	F560L	probably benign	Het
Cacna2d2	A	T	9: 107,403,350 (GRCm39)	Y944F	probably benign	Het
Cdkal1	C	T	13: 30,034,031 (GRCm39)	D21N	probably damaging	Het
Col18a1	T	C	10: 76,895,815 (GRCm39)	R901G	probably damaging	Het
Col27a1	C	T	4: 63,143,950 (GRCm39)	P546L	probably damaging	Het
Cps1	C	T	1: 67,210,041 (GRCm39)	R624W	possibly damaging	Het
Cyp11a1	A	T	9: 57,925,643 (GRCm39)	I93F	probably benign	Het
Cyp2c40	G	C	19: 39,775,250 (GRCm39)	T334R	probably damaging	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
D630003M21Rik	A	T	2: 158,062,390 (GRCm39)	D43E	probably damaging	Het
Ep400	C	A	5: 110,833,357 (GRCm39)	C1955F	unknown	Het
Ethe1	G	A	7: 24,293,371 (GRCm39)	V6I	probably benign	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fasn	T	C	11: 120,707,997 (GRCm39)	Y685C	probably damaging	Het
Gga2	T	G	7: 121,611,444 (GRCm39)	D38A	probably damaging	Het
Gm43302	T	A	5: 105,423,660 (GRCm39)	I438F	probably benign	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Hic2	G	T	16: 17,076,511 (GRCm39)	V447L	probably damaging	Het
Hsf2	G	A	10: 57,388,242 (GRCm39)	C462Y	probably damaging	Het
Ice1	T	C	13: 70,752,672 (GRCm39)	D1138G	probably damaging	Het
Il6	A	G	5: 30,224,433 (GRCm39)	T158A	probably benign	Het
Inpp5d	T	A	1: 87,595,611 (GRCm39)	V120E	probably benign	Het
Iqca1	T	C	1: 90,008,625 (GRCm39)	N456S	probably benign	Het
Itgal	T	A	7: 126,908,794 (GRCm39)		probably null	Het
Lrrc66	G	C	5: 73,768,198 (GRCm39)	Q248E	probably benign	Het
Lrrc7	T	A	3: 157,865,929 (GRCm39)	M1271L	possibly damaging	Het
Lrrc74a	T	C	12: 86,795,827 (GRCm39)	S267P	probably damaging	Het
Map2	T	C	1: 66,453,233 (GRCm39)	S550P	probably damaging	Het
Mapk8ip3	A	T	17: 25,143,119 (GRCm39)		probably null	Het
Mdm4	A	C	1: 132,924,384 (GRCm39)	S246A	probably damaging	Het
Med23	A	G	10: 24,779,584 (GRCm39)	E887G	probably damaging	Het
Mta1	C	T	12: 113,091,659 (GRCm39)	A254V	probably damaging	Het
Myh2	A	G	11: 67,064,300 (GRCm39)	Y85C	possibly damaging	Het
Myo1g	A	G	11: 6,465,988 (GRCm39)	Y366H	probably damaging	Het
Nalcn	G	A	14: 123,515,678 (GRCm39)	P1708S	probably benign	Het
Nlrp9c	A	T	7: 26,093,543 (GRCm39)	S41T	probably benign	Het
Nptx2	T	A	5: 144,490,248 (GRCm39)	S226T	possibly damaging	Het
Nup85	T	A	11: 115,473,771 (GRCm39)	S562T	probably benign	Het
Nxpe5	T	C	5: 138,237,797 (GRCm39)	V107A	probably benign	Het
Obi1	A	G	14: 104,717,098 (GRCm39)	V425A	possibly damaging	Het
Oga	T	C	19: 45,765,423 (GRCm39)	E128G	probably benign	Het
Or10ac1	A	T	6: 42,515,453 (GRCm39)	F168I	probably damaging	Het
Or10al7	A	G	17: 38,366,328 (GRCm39)	V43A	probably benign	Het
Or13c3	T	A	4: 52,855,674 (GRCm39)	I280F	probably benign	Het
Or6p1	A	G	1: 174,258,905 (GRCm39)	T304A	probably benign	Het
Pcdhb5	T	A	18: 37,455,725 (GRCm39)	F702I	probably damaging	Het
Pcnx1	T	C	12: 82,022,094 (GRCm39)	F1475S	probably damaging	Het
Pde5a	C	A	3: 122,523,013 (GRCm39)	T40N	probably benign	Het
Pnpla2	T	A	7: 141,039,481 (GRCm39)	V398E	probably damaging	Het
Pramel19	G	A	4: 101,797,655 (GRCm39)	V18M	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab20	T	C	8: 11,504,223 (GRCm39)	K159R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs12	T	A	5: 35,123,747 (GRCm39)	V510D	probably benign	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc27a5	A	T	7: 12,731,534 (GRCm39)	C23*	probably null	Het
Slc35e2	T	C	4: 155,694,621 (GRCm39)	V56A	possibly damaging	Het
Slx4ip	T	C	2: 136,909,643 (GRCm39)	S143P	probably damaging	Het
Stat5a	C	T	11: 100,770,112 (GRCm39)	S463F	probably damaging	Het
Svep1	T	C	4: 58,146,562 (GRCm39)	D360G	possibly damaging	Het
Tas2r143	A	T	6: 42,377,305 (GRCm39)	D45V	probably damaging	Het
Tdrd5	G	T	1: 156,105,079 (GRCm39)	R516S	probably damaging	Het
Thy1	A	G	9: 43,958,636 (GRCm39)	D126G	probably benign	Het
Tspear	C	T	10: 77,709,019 (GRCm39)	T415I	probably benign	Het
Ttll5	C	A	12: 85,980,176 (GRCm39)	T920K	probably benign	Het
Tut4	T	C	4: 108,365,152 (GRCm39)	F542L	probably damaging	Het
Umod	T	C	7: 119,076,574 (GRCm39)	E64G	possibly damaging	Het
Usf3	A	G	16: 44,036,033 (GRCm39)	N171S	probably damaging	Het
Vmn1r23	T	A	6: 57,903,675 (GRCm39)	R34S	probably damaging	Het
Wasf1	C	G	10: 40,810,475 (GRCm39)	P239R	possibly damaging	Het
Wdr95	C	T	5: 149,487,857 (GRCm39)	R164*	probably null	Het
Zan	C	A	5: 137,418,251 (GRCm39)	C2949F	unknown	Het
Zbed4	T	C	15: 88,665,080 (GRCm39)	S383P	probably benign	Het
Zfand5	T	A	19: 21,253,895 (GRCm39)	C33S	probably damaging	Het
Zfp12	A	G	5: 143,230,984 (GRCm39)	Y437C	probably damaging	Het
Zfp451	A	C	1: 33,852,849 (GRCm39)	S22A	probably benign	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
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

PCR Primer
(F):5'- ACTGTGTTTCCTCTGAAGGCAGC -3'
(R):5'- CCCCTTGAAACAGAGAATAGGCGAC -3'

Sequencing Primer
(F):5'- GGCAGCTCATGACTCTGACATAG -3'
(R):5'- TAGGCGACATTGCCATATATCC -3'

Posted On

2014-05-23