Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Cdh12'

505635

Institutional Source

Beutler Lab

Gene Symbol

Cdh12

Ensembl Gene

ENSMUSG00000040452

Gene Name

cadherin 12

Synonyms

Br-cadherin

Accession Numbers

Essential gene?

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

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20449351-21589619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21237800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 12 (W12G)

Ref Sequence

ENSEMBL: ENSMUSP00000153750 (fasta)

Gene Model

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

AlphaFold

Q5RJH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075132
AA Change: W12G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: W12G

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

possibly damaging
Transcript: ENSMUST00000227496
AA Change: W12G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,978 (GRCm39)	S83P	possibly damaging	Het
Actr10	A	T	12: 70,999,733 (GRCm39)	E176D	probably benign	Het
Adcy3	G	A	12: 4,258,662 (GRCm39)		probably null	Het
AI429214	T	A	8: 37,461,278 (GRCm39)	I142N	probably damaging	Het
Alox12	A	G	11: 70,143,936 (GRCm39)	L148S	probably damaging	Het
Ank3	A	G	10: 69,809,680 (GRCm39)	I1147V	probably benign	Het
Apoc2	C	T	7: 19,407,493 (GRCm39)	V12I	probably benign	Het
Arap3	T	C	18: 38,124,407 (GRCm39)	S311G	probably benign	Het
Arih2	G	T	9: 108,488,841 (GRCm39)	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,101,843 (GRCm39)	D312E	probably benign	Het
Cisd2	A	T	3: 135,114,616 (GRCm39)	N118K	probably damaging	Het
Cntnap5b	A	G	1: 99,999,827 (GRCm39)	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,161,966 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	T	A	2: 180,302,048 (GRCm39)	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,871,283 (GRCm39)		probably null	Het
Dnal4	T	A	15: 79,646,714 (GRCm39)	M56L	probably damaging	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Eps8l2	A	G	7: 140,922,015 (GRCm39)	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479 (GRCm39)	L112*	probably null	Het
Etl4	C	T	2: 20,813,900 (GRCm39)	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,330,400 (GRCm39)	F510L	probably benign	Het
Fam114a2	G	T	11: 57,383,942 (GRCm39)	T324K	possibly damaging	Het
Fer1l4	G	A	2: 155,888,091 (GRCm39)	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,436,173 (GRCm39)	S2R	probably benign	Het
Fscn1	A	T	5: 142,946,778 (GRCm39)	D192V	possibly damaging	Het
Gm3486	T	A	14: 41,206,472 (GRCm39)	*200C	probably null	Het
Gusb	A	T	5: 130,029,366 (GRCm39)	H138Q	probably benign	Het
Hdac9	A	T	12: 34,578,293 (GRCm39)	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,284,964 (GRCm39)	R439L	probably benign	Het
Hoxd9	A	G	2: 74,528,980 (GRCm39)	E194G	probably benign	Het
Itgb1	A	G	8: 129,448,902 (GRCm39)	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,437,216 (GRCm39)	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,123,983 (GRCm39)	S727L	possibly damaging	Het
Klhdc4	A	G	8: 122,540,507 (GRCm39)	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,596,137 (GRCm39)	V62A	probably damaging	Het
Krit1	A	G	5: 3,863,032 (GRCm39)		probably null	Het
Krt40	A	G	11: 99,432,566 (GRCm39)	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,208,738 (GRCm39)	T464A	probably benign	Het
Lrrc52	T	G	1: 167,293,964 (GRCm39)	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,408,692 (GRCm39)	V35F	probably damaging	Het
Mccc1	A	G	3: 36,044,313 (GRCm39)	V171A	probably damaging	Het
Metap1d	A	T	2: 71,346,104 (GRCm39)	R222*	probably null	Het
Mrgpre	G	A	7: 143,334,603 (GRCm39)	A300V	probably benign	Het
Mterf1b	C	A	5: 4,246,606 (GRCm39)	N82K	probably benign	Het
Myh9	C	T	15: 77,669,422 (GRCm39)	W533*	probably null	Het
Myom2	A	G	8: 15,148,472 (GRCm39)		probably null	Het
Ncor1	G	A	11: 62,257,808 (GRCm39)	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,344,611 (GRCm39)		probably benign	Het
Or10x1	T	G	1: 174,197,236 (GRCm39)	V251G	probably benign	Het
Or11a4	T	A	17: 37,536,451 (GRCm39)	L145*	probably null	Het
Or2a57	C	T	6: 43,212,838 (GRCm39)	Q99*	probably null	Het
Or2w6	A	T	13: 21,843,244 (GRCm39)	I83N	possibly damaging	Het
Or52p2	T	C	7: 102,237,237 (GRCm39)	T238A	probably benign	Het
Or6c210	A	G	10: 129,496,532 (GRCm39)	I286V	probably benign	Het
Or6z1	A	T	7: 6,504,675 (GRCm39)	C183*	probably null	Het
Pcdha11	T	C	18: 37,138,950 (GRCm39)	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,639,285 (GRCm39)	F604I	probably damaging	Het
Pde1a	T	C	2: 79,708,545 (GRCm39)	H291R	probably damaging	Het
Pfkm	G	A	15: 98,024,260 (GRCm39)	V423M	probably damaging	Het
Pira1	C	A	7: 3,739,337 (GRCm39)	E510D	probably benign	Het
Pkd2l1	G	T	19: 44,146,108 (GRCm39)	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,392,955 (GRCm39)	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Prpf39	A	C	12: 65,089,528 (GRCm39)	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,587,537 (GRCm39)	F743L	probably damaging	Het
Raver2	A	G	4: 100,991,320 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,783,709 (GRCm39)	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,495,957 (GRCm39)	F13L	probably benign	Het
Scd2	T	C	19: 44,291,448 (GRCm39)	F296L	probably damaging	Het
Scg2	G	T	1: 79,414,023 (GRCm39)	D233E	probably benign	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,636,286 (GRCm39)	V644E	unknown	Het
Slc44a5	G	T	3: 153,969,678 (GRCm39)	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,234 (GRCm39)	R107*	probably null	Het
Sun5	G	T	2: 153,702,589 (GRCm39)	T189K	probably damaging	Het
Tap1	A	T	17: 34,412,151 (GRCm39)	E452V	probably damaging	Het
Tcam1	A	G	11: 106,173,652 (GRCm39)	N32S	probably benign	Het
Tep1	T	C	14: 51,067,715 (GRCm39)	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmem175	T	C	5: 108,793,821 (GRCm39)	V317A	probably damaging	Het
Tsga13	A	G	6: 30,874,139 (GRCm39)	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,970 (GRCm39)	S126P	probably damaging	Het
Uvrag	G	T	7: 98,637,398 (GRCm39)	D143E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,036 (GRCm39)	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,852,287 (GRCm39)	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,049,284 (GRCm39)	T822A	probably benign	Het
Vmn2r67	T	C	7: 84,799,768 (GRCm39)	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,667,386 (GRCm39)	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962 (GRCm39)	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp831	A	T	2: 174,486,308 (GRCm39)	T328S	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
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
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'- GGTCTCCTTAGATGGAATGTCATAAAC -3'
(R):5'- CACATATTGAGGTTCGGAGCC -3'

Sequencing Primer
(F):5'- TGGAATGTCATAAACCAGAAACTTCC -3'
(R):5'- ATATTGAGGTTCGGAGCCCATGTAC -3'

Posted On

2018-02-28