Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Cdh12'

188214

Institutional Source

Beutler Lab

Gene Symbol

Cdh12

Ensembl Gene

ENSMUSG00000040452

Gene Name

cadherin 12

Synonyms

Br-cadherin

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20449351-21589619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21520491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 319 (I319V)

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: I319V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: I319V

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: I319V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.1624

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	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
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
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'- AGTTCTACATCAGGACATTCTGAAGGGA -3'
(R):5'- AGATGTCATTTGGCAAACTAAGAAGCCT -3'

Sequencing Primer
(F):5'- CATTCTGAAGGGAATTGTAAGGC -3'
(R):5'- GAGAAAGATAGCTATCACTGTCTGCT -3'

Posted On

2014-05-09