Mutagenetix > Incidental Mutations

Incidental Mutation 'R1950:Cdh12'

217244

Institutional Source

Beutler Lab

Gene Symbol

Cdh12

Ensembl Gene

ENSMUSG00000040452

Gene Name

cadherin 12

Synonyms

Br-cadherin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20449265-21589533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21237879 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 67 (Y67H)

Ref Sequence

ENSEMBL: ENSMUSP00000153750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075132] [ENSMUST00000227496]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075132
AA Change: Y67H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: Y67H

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
CA	77	158	5.18e-18	SMART
CA	182	267	4.4e-30	SMART
CA	291	383	2.42e-18	SMART
CA	406	487	7.55e-20	SMART
CA	510	597	9.3e-2	SMART
transmembrane domain	615	637	N/A	INTRINSIC
Pfam:Cadherin_C	640	784	1.7e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227496
AA Change: Y67H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is expressed in both the excitatory and inhibitory neurons in various areas of the adult central nervous system including the cerebellum, neocortex, hippocampus and in different subcortical nuclei. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 3,960,677	N478S	probably damaging	Het
Als2	T	A	1: 59,185,601		probably null	Het
Ankfy1	A	G	11: 72,760,329	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 122,889,869	T2394A	probably damaging	Het
Axin1	G	C	17: 26,193,964	G780R	possibly damaging	Het
Carm1	A	T	9: 21,574,516	T127S	probably benign	Het
Ccdc73	T	C	2: 104,926,935	I81T	probably benign	Het
Cfap65	C	A	1: 74,907,660	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,427,430		probably null	Het
Chit1	A	G	1: 134,151,230	Y426C	probably damaging	Het
Clpp	A	G	17: 56,996,039		probably benign	Het
Clrn3	T	G	7: 135,514,084	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,769	M635R	probably damaging	Het
Col12a1	A	T	9: 79,630,549	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 60,896,049	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674	I154F	probably benign	Het
Cyhr1	A	G	15: 76,659,217		probably null	Het
Dffa	C	A	4: 149,104,382	S44R	probably benign	Het
Ehbp1	T	A	11: 22,059,228	K930M	probably damaging	Het
Erc2	T	A	14: 27,912,900	S473T	probably damaging	Het
Fam71f1	C	T	6: 29,335,816		probably null	Het
Fbxw24	A	T	9: 109,605,413	L373H	probably benign	Het
Fer1l4	T	C	2: 156,048,274	I244V	probably damaging	Het
Fgfr2	G	A	7: 130,198,481	T245M	probably damaging	Het
Gbp9	T	A	5: 105,081,246	M512L	probably benign	Het
Glg1	T	A	8: 111,165,639	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,100,420	D86G	possibly damaging	Het
Gm10767	A	G	13: 66,907,205		probably benign	Het
Gm5622	T	C	14: 51,655,772	V52A	probably benign	Het
Gucy1b1	A	G	3: 82,045,409	V239A	probably benign	Het
Gzma	A	G	13: 113,093,929	L246P	probably damaging	Het
Hibadh	C	A	6: 52,556,463	A223S	probably benign	Het
Hydin	C	A	8: 110,609,987	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,814,513	N1198S	probably damaging	Het
Ivl	T	C	3: 92,572,113	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,239,922	D2037G	possibly damaging	Het
Kcna3	G	A	3: 107,037,672	C417Y	probably damaging	Het
Klra2	T	C	6: 131,230,115	N177S	probably benign	Het
Llgl2	T	C	11: 115,851,066	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,273,831	E230G	probably benign	Het
Magel2	C	A	7: 62,378,415	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,345,989	V368A	probably benign	Het
Myh8	G	A	11: 67,279,004	V50M	possibly damaging	Het
Myrf	A	T	19: 10,218,190	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Olfr1330	G	A	4: 118,893,340	V86M	probably benign	Het
Olfr556	A	G	7: 102,670,477	M186V	probably benign	Het
Otud4	G	A	8: 79,646,332	R93H	probably damaging	Het
Pank4	T	A	4: 154,972,520	M390K	probably benign	Het
Pecam1	A	G	11: 106,685,203	V401A	probably damaging	Het
Prdm6	C	A	18: 53,536,724	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Prpf8	A	G	11: 75,496,511	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,197,941	I395N	probably benign	Het
Rab27a	G	A	9: 73,075,469	G19R	probably damaging	Het
Rrp12	A	G	19: 41,892,590	V134A	probably damaging	Het
Scly	A	G	1: 91,305,394	T76A	probably benign	Het
Scube3	T	C	17: 28,164,300	S439P	possibly damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,341,459	F153S	probably damaging	Het
Slc25a30	T	G	14: 75,769,567	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,644,640	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Smr2	C	CT	5: 88,108,826		probably null	Het
Sp6	T	G	11: 97,022,114	S218A	probably benign	Het
Spata21	T	C	4: 141,111,405	V589A	probably damaging	Het
Sycp2	T	C	2: 178,402,800	I71V	probably benign	Het
Syne2	G	T	12: 75,952,870	G2347C	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,769,571	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,807,626	D216G	probably damaging	Het
Tprg	T	A	16: 25,317,348	S30T	possibly damaging	Het
Trip12	A	T	1: 84,760,801	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633	L65P	probably damaging	Het
Ush2a	A	T	1: 188,755,185	N3050I	probably damaging	Het
Xpot	T	C	10: 121,619,148	I30V	probably benign	Het
Zfp944	A	G	17: 22,339,700	S189P	probably benign	Het

Other mutations in Cdh12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Cdh12	APN	15	21237903	missense	probably damaging	0.98
IGL01414:Cdh12	APN	15	21492689	missense	probably damaging	1.00
IGL02088:Cdh12	APN	15	21480339	nonsense	probably null
IGL02894:Cdh12	APN	15	21586294	missense	probably damaging	1.00
IGL03008:Cdh12	APN	15	21480330	missense	probably damaging	0.98
IGL03271:Cdh12	APN	15	21586453	missense	probably benign	0.19
IGL03402:Cdh12	APN	15	21583740	missense	probably benign	0.08
R0042:Cdh12	UTSW	15	21537677	splice site	probably benign
R0126:Cdh12	UTSW	15	21583945	missense	probably benign
R0239:Cdh12	UTSW	15	21586407	missense	probably damaging	1.00
R0239:Cdh12	UTSW	15	21586407	missense	probably damaging	1.00
R0335:Cdh12	UTSW	15	21578549	critical splice donor site	probably null
R0421:Cdh12	UTSW	15	21480224	critical splice acceptor site	probably null
R0918:Cdh12	UTSW	15	21492599	missense	probably damaging	0.99
R0972:Cdh12	UTSW	15	21237764	missense	probably benign	0.27
R1014:Cdh12	UTSW	15	21492620	missense	probably damaging	0.97
R1304:Cdh12	UTSW	15	21583937	missense	probably benign	0.10
R1677:Cdh12	UTSW	15	21520405	missense	probably damaging	0.99
R1735:Cdh12	UTSW	15	21520366	missense	probably damaging	1.00
R1916:Cdh12	UTSW	15	21520250	splice site	probably null
R2059:Cdh12	UTSW	15	21583740	missense	probably benign	0.08
R2157:Cdh12	UTSW	15	21583787	missense	possibly damaging	0.84
R2404:Cdh12	UTSW	15	21537634	missense	probably damaging	1.00
R3625:Cdh12	UTSW	15	21358756	missense	probably damaging	1.00
R3703:Cdh12	UTSW	15	21583826	missense	probably damaging	0.97
R3704:Cdh12	UTSW	15	21583826	missense	probably damaging	0.97
R3743:Cdh12	UTSW	15	21537659	missense	probably damaging	0.98
R3771:Cdh12	UTSW	15	21578554	splice site	probably benign
R3780:Cdh12	UTSW	15	21585977	splice site	probably null
R4750:Cdh12	UTSW	15	21583808	missense	possibly damaging	0.59
R5373:Cdh12	UTSW	15	21583912	missense	probably damaging	1.00
R5374:Cdh12	UTSW	15	21583912	missense	probably damaging	1.00
R5443:Cdh12	UTSW	15	21237849	missense	probably benign	0.01
R5548:Cdh12	UTSW	15	21492654	missense	probably damaging	1.00
R5746:Cdh12	UTSW	15	21358724	missense	probably null	1.00
R5960:Cdh12	UTSW	15	21492476	intron	probably null
R6248:Cdh12	UTSW	15	21237714	missense	possibly damaging	0.82
R6379:Cdh12	UTSW	15	21492657	missense	probably benign	0.02
R6419:Cdh12	UTSW	15	21520397	missense	probably damaging	0.99
R6561:Cdh12	UTSW	15	21492594	missense	probably damaging	1.00
R6901:Cdh12	UTSW	15	21583786	missense	probably benign	0.01
R7025:Cdh12	UTSW	15	21358814	missense	probably damaging	1.00
R7070:Cdh12	UTSW	15	21583829	missense	probably benign	0.38
R7508:Cdh12	UTSW	15	21583765	missense	probably benign
X0065:Cdh12	UTSW	15	21358765	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCCAATGCTTACAAGGAAC -3'
(R):5'- CTTACCAAGGCCAGAGTCAG -3'

Sequencing Primer
(F):5'- GCTTACAAGGAACTCTTTATACCTGC -3'
(R):5'- TCAGGAAGAGAAACCAAGTCTGTTG -3'

Posted On

2014-08-01