Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Pcdhb12'

597981

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb12

Ensembl Gene

ENSMUSG00000043458

Gene Name

protocadherin beta 12

Synonyms

Pcdh3, PcdhbL, Pcdhb5F

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37435621-37438654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37435924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 41 (V41G)

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: V41G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: V41G

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

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	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
R2915:Pcdhb12	UTSW	18	37437640	missense	probably damaging	1.00
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
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'- ATATTTGCACGGACCCTCACG -3'
(R):5'- CAGTATGATCTGGAAGTGCAGC -3'

Sequencing Primer
(F):5'- GGTTGCAATCCACTTGAAGC -3'
(R):5'- TGCAGCACACAGGGTTCTG -3'

Posted On

2019-11-26