Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Cdh12'

736040

Institutional Source

Beutler Lab

Gene Symbol

Cdh12

Ensembl Gene

ENSMUSG00000040452

Gene Name

cadherin 12

Synonyms

Br-cadherin

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20449351-21589619 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 21492801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153750 (fasta)

Gene Model

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

AlphaFold

Q5RJH3

Predicted Effect

probably benign
Transcript: ENSMUST00000075132

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452

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 benign
Transcript: ENSMUST00000227496

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Col11a1	G	T	3: 113,901,948 (GRCm39)	G548*	probably null	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
Dok7	G	A	5: 35,214,239 (GRCm39)		probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or4k51	G	A	2: 111,584,965 (GRCm39)	V124M	probably damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,335,691 (GRCm39)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Snx32	T	A	19: 5,548,485 (GRCm39)	H65L	probably damaging	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	probably 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
R5374: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
X0065:Cdh12	UTSW	15	21,358,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATTAGAACAGCATTGCCAAAC -3'
(R):5'- AAAATATTGCAGGGTGTGTACG -3'

Sequencing Primer
(F):5'- GCATTGCCAAACATGGACAG -3'
(R):5'- GTCATCTCTTAGAAGCTTGTGTTTTC -3'

Posted On

2022-11-16