Mutagenetix > Incidental Mutation

Incidental Mutation 'R5374:Cdh12'

428964

Institutional Source

Beutler Lab

Gene Symbol

Cdh12

Ensembl Gene

ENSMUSG00000040452

Gene Name

cadherin 12

Synonyms

Br-cadherin

MMRRC Submission

042950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20449351-21589619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21583998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 613 (S613R)

Ref Sequence

ENSEMBL: ENSMUSP00000153750 (fasta)

Gene Model

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

AlphaFold

Q5RJH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000075132
AA Change: S613R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: S613R

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: S613R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3062

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (81/84)

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
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Astn2	A	C	4: 65,315,242 (GRCm39)	V1145G	probably damaging	Het
Babam2	C	T	5: 32,164,574 (GRCm39)		probably benign	Het
Blvrb	A	G	7: 27,165,271 (GRCm39)	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,596,228 (GRCm39)	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Clcn2	C	A	16: 20,528,419 (GRCm39)	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cox7c	T	C	13: 86,194,739 (GRCm39)	Y19C	probably benign	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,043,205 (GRCm39)	V864A	possibly damaging	Het
Dock7	A	G	4: 98,877,275 (GRCm39)	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Entpd2	C	T	2: 25,289,738 (GRCm39)	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Ginm1	A	G	10: 7,655,078 (GRCm39)	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,734,148 (GRCm39)		probably null	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm8221	A	G	15: 77,510,352 (GRCm39)		noncoding transcript	Het
Gramd1c	A	G	16: 43,803,604 (GRCm39)	V603A	probably benign	Het
Grm1	A	G	10: 10,956,186 (GRCm39)	S33P	probably benign	Het
Gstp3	T	C	19: 4,107,922 (GRCm39)	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Nom1	C	G	5: 29,646,377 (GRCm39)	R555G	probably damaging	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or52e18	G	T	7: 104,609,203 (GRCm39)	H245Q	probably damaging	Het
Or5p52	T	C	7: 107,502,698 (GRCm39)	I258T	possibly damaging	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,590,695 (GRCm39)	S466T	probably benign	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rhobtb3	T	C	13: 76,027,014 (GRCm39)	Y453C	probably damaging	Het
Rspry1	T	C	8: 95,349,636 (GRCm39)	V8A	probably benign	Het
Rspry1	C	A	8: 95,380,892 (GRCm39)	R399S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Sap18b	G	A	8: 96,551,998 (GRCm39)	A3T	unknown	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Skint3	T	A	4: 112,155,386 (GRCm39)	D381E	possibly damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,736,158 (GRCm39)	N1764K	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Ticrr	T	G	7: 79,340,690 (GRCm39)	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Trpm3	C	T	19: 22,903,548 (GRCm39)	R945*	probably null	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Ush2a	C	T	1: 188,487,403 (GRCm39)	T3057M	probably benign	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Cdh12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Cdh12	APN	15	21,237,989 (GRCm39)	missense	probably damaging	0.98
IGL01414:Cdh12	APN	15	21,492,775 (GRCm39)	missense	probably damaging	1.00
IGL02088:Cdh12	APN	15	21,480,425 (GRCm39)	nonsense	probably null
IGL02894:Cdh12	APN	15	21,586,380 (GRCm39)	missense	probably damaging	1.00
IGL03008:Cdh12	APN	15	21,480,416 (GRCm39)	missense	probably damaging	0.98
IGL03271:Cdh12	APN	15	21,586,539 (GRCm39)	missense	probably benign	0.19
IGL03402:Cdh12	APN	15	21,583,826 (GRCm39)	missense	probably benign	0.08
R0042:Cdh12	UTSW	15	21,537,763 (GRCm39)	splice site	probably benign
R0126:Cdh12	UTSW	15	21,584,031 (GRCm39)	missense	probably benign
R0239:Cdh12	UTSW	15	21,586,493 (GRCm39)	missense	probably damaging	1.00
R0239:Cdh12	UTSW	15	21,586,493 (GRCm39)	missense	probably damaging	1.00
R0335:Cdh12	UTSW	15	21,578,635 (GRCm39)	critical splice donor site	probably null
R0421:Cdh12	UTSW	15	21,480,310 (GRCm39)	critical splice acceptor site	probably null
R0918:Cdh12	UTSW	15	21,492,685 (GRCm39)	missense	probably damaging	0.99
R0972:Cdh12	UTSW	15	21,237,850 (GRCm39)	missense	probably benign	0.27
R1014:Cdh12	UTSW	15	21,492,706 (GRCm39)	missense	probably damaging	0.97
R1304:Cdh12	UTSW	15	21,584,023 (GRCm39)	missense	probably benign	0.10
R1677:Cdh12	UTSW	15	21,520,491 (GRCm39)	missense	probably damaging	0.99
R1735:Cdh12	UTSW	15	21,520,452 (GRCm39)	missense	probably damaging	1.00
R1916:Cdh12	UTSW	15	21,520,336 (GRCm39)	splice site	probably null
R1950:Cdh12	UTSW	15	21,237,965 (GRCm39)	missense	probably damaging	1.00
R2059:Cdh12	UTSW	15	21,583,826 (GRCm39)	missense	probably benign	0.08
R2157:Cdh12	UTSW	15	21,583,873 (GRCm39)	missense	possibly damaging	0.84
R2404:Cdh12	UTSW	15	21,537,720 (GRCm39)	missense	probably damaging	1.00
R3625:Cdh12	UTSW	15	21,358,842 (GRCm39)	missense	probably damaging	1.00
R3703:Cdh12	UTSW	15	21,583,912 (GRCm39)	missense	probably damaging	0.97
R3704:Cdh12	UTSW	15	21,583,912 (GRCm39)	missense	probably damaging	0.97
R3743:Cdh12	UTSW	15	21,537,745 (GRCm39)	missense	probably damaging	0.98
R3771:Cdh12	UTSW	15	21,578,640 (GRCm39)	splice site	probably benign
R3780:Cdh12	UTSW	15	21,586,063 (GRCm39)	splice site	probably null
R4750:Cdh12	UTSW	15	21,583,894 (GRCm39)	missense	possibly damaging	0.59
R5373:Cdh12	UTSW	15	21,583,998 (GRCm39)	missense	probably damaging	1.00
R5443:Cdh12	UTSW	15	21,237,935 (GRCm39)	missense	probably benign	0.01
R5548:Cdh12	UTSW	15	21,492,740 (GRCm39)	missense	probably damaging	1.00
R5746:Cdh12	UTSW	15	21,358,810 (GRCm39)	missense	probably null	1.00
R5960:Cdh12	UTSW	15	21,492,562 (GRCm39)	splice site	probably null
R6248:Cdh12	UTSW	15	21,237,800 (GRCm39)	missense	possibly damaging	0.82
R6379:Cdh12	UTSW	15	21,492,743 (GRCm39)	missense	probably benign	0.02
R6419:Cdh12	UTSW	15	21,520,483 (GRCm39)	missense	probably damaging	0.99
R6561:Cdh12	UTSW	15	21,492,680 (GRCm39)	missense	probably damaging	1.00
R6901:Cdh12	UTSW	15	21,583,872 (GRCm39)	missense	probably benign	0.01
R7025:Cdh12	UTSW	15	21,358,900 (GRCm39)	missense	probably damaging	1.00
R7070:Cdh12	UTSW	15	21,583,915 (GRCm39)	missense	probably benign	0.38
R7508:Cdh12	UTSW	15	21,583,851 (GRCm39)	missense	probably benign
R8126:Cdh12	UTSW	15	21,558,393 (GRCm39)	missense	probably benign	0.02
R8307:Cdh12	UTSW	15	21,358,950 (GRCm39)	missense	probably damaging	1.00
R8307:Cdh12	UTSW	15	21,358,949 (GRCm39)	missense	probably benign
R8969:Cdh12	UTSW	15	21,492,739 (GRCm39)	missense	probably damaging	1.00
R9201:Cdh12	UTSW	15	21,237,825 (GRCm39)	missense	possibly damaging	0.96
R9272:Cdh12	UTSW	15	21,492,801 (GRCm39)	splice site	probably benign
X0065:Cdh12	UTSW	15	21,358,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCGAAGAAATGGCTATAGC -3'
(R):5'- CAAGGGGTTGCTTTACTCTCC -3'

Sequencing Primer
(F):5'- GCAGTTATCCTGTCCAGA -3'
(R):5'- GGAGAAGATGGCCAATGTAT -3'

Posted On

2016-09-06