Mutagenetix > Incidental Mutation

Incidental Mutation 'R1406:Cdh7'

188721

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110061132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 255 (V255I)

Ref Sequence

ENSEMBL: ENSMUSP00000129715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027542] [ENSMUST00000112701] [ENSMUST00000131464] [ENSMUST00000172005]

AlphaFold

Q8BM92

Predicted Effect

probably benign
Transcript: ENSMUST00000027542
AA Change: V255I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: V255I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	70	151	5.77e-16	SMART
CA	175	260	2.9e-30	SMART
CA	284	376	1.96e-18	SMART
CA	399	480	1.19e-26	SMART
CA	503	590	2.26e-9	SMART
transmembrane domain	606	628	N/A	INTRINSIC
Pfam:Cadherin_C	633	778	6e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112701
AA Change: V255I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: V255I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	70	151	5.77e-16	SMART
CA	175	260	2.9e-30	SMART
CA	284	376	1.96e-18	SMART
CA	399	480	1.19e-26	SMART
CA	503	590	2.26e-9	SMART
transmembrane domain	606	628	N/A	INTRINSIC
Pfam:Cadherin_C	631	779	4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131464

SMART Domains

Protein: ENSMUSP00000138046
Gene: ENSMUSG00000026312

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
PDB:1ZVN\|B	49	70	1e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172005
AA Change: V255I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: V255I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	70	151	5.77e-16	SMART
CA	175	260	2.9e-30	SMART
CA	284	376	1.96e-18	SMART
CA	399	480	1.19e-26	SMART
CA	503	590	2.26e-9	SMART
transmembrane domain	606	628	N/A	INTRINSIC
Pfam:Cadherin_C	631	779	4e-58	PFAM

Meta Mutation Damage Score

0.1784

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

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. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related cadherin gene on chromosome 1. [provided by RefSeq, Oct 2015]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,512,749 (GRCm38)	T733A	probably benign	Het
Antxrl	A	G	14: 34,073,042 (GRCm38)	N476D	possibly damaging	Het
Armc8	G	T	9: 99,523,248 (GRCm38)	P268Q	probably benign	Het
Asb8	C	A	15: 98,136,423 (GRCm38)	G84C	probably damaging	Het
BC027072	T	C	17: 71,749,161 (GRCm38)	N1174D	probably benign	Het
BC035044	A	T	6: 128,885,084 (GRCm38)		probably null	Het
Caprin1	A	G	2: 103,775,987 (GRCm38)	F303L	probably benign	Het
Ctdspl2	G	A	2: 122,006,868 (GRCm38)	R371Q	probably damaging	Het
Dctn4	T	A	18: 60,556,330 (GRCm38)	D431E	probably benign	Het
Dhx40	T	C	11: 86,797,745 (GRCm38)	E284G	probably benign	Het
Dhx9	A	G	1: 153,464,938 (GRCm38)	V652A	probably damaging	Het
Fnip2	G	T	3: 79,508,091 (GRCm38)	N213K	possibly damaging	Het
Itch	A	G	2: 155,206,354 (GRCm38)	E546G	possibly damaging	Het
Map3k20	A	T	2: 72,389,494 (GRCm38)	I257F	probably damaging	Het
Mdc1	C	T	17: 35,853,532 (GRCm38)	T1324I	probably benign	Het
Mertk	T	C	2: 128,771,486 (GRCm38)	I474T	probably benign	Het
Nav3	A	G	10: 109,883,634 (GRCm38)	V156A	possibly damaging	Het
Nbea	A	G	3: 56,037,281 (GRCm38)	V554A	probably benign	Het
Olfr1308	A	G	2: 111,960,581 (GRCm38)	V164A	probably benign	Het
Olfr157	C	T	4: 43,835,582 (GRCm38)	V303M	possibly damaging	Het
Olfr419	T	A	1: 174,250,861 (GRCm38)	E22V	possibly damaging	Het
Pask	A	G	1: 93,321,651 (GRCm38)	Y676H	probably benign	Het
Plpp2	G	A	10: 79,530,777 (GRCm38)		probably benign	Het
Rab32	A	G	10: 10,550,893 (GRCm38)	V103A	probably damaging	Het
Rp1	T	C	1: 4,351,921 (GRCm38)	E262G	possibly damaging	Het
Rtn4	A	G	11: 29,708,236 (GRCm38)	T797A	probably benign	Het
Sall1	A	T	8: 89,032,444 (GRCm38)	I344K	probably benign	Het
Scnn1b	T	C	7: 121,902,544 (GRCm38)		probably null	Het
Sik3	G	T	9: 46,123,345 (GRCm38)		probably benign	Het
Slc7a2	G	T	8: 40,905,585 (GRCm38)	G322W	probably damaging	Het
Snx29	A	G	16: 11,399,793 (GRCm38)	M153V	probably benign	Het
Stk25	A	G	1: 93,625,153 (GRCm38)		probably benign	Het
Stk4	C	T	2: 164,100,528 (GRCm38)	T360M	probably benign	Het
Ush1c	A	C	7: 46,225,541 (GRCm38)		probably null	Het
Vmn2r8	C	T	5: 108,802,368 (GRCm38)	M204I	probably benign	Het
Zfp839	C	T	12: 110,866,310 (GRCm38)	T554M	probably damaging	Het

Other mutations in Cdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Cdh7	APN	1	110,065,626 (GRCm38)	missense	probably benign	0.22
IGL00861:Cdh7	APN	1	110,060,988 (GRCm38)	splice site	probably benign
IGL01016:Cdh7	APN	1	110,108,956 (GRCm38)	critical splice donor site	probably null
IGL01538:Cdh7	APN	1	110,061,140 (GRCm38)	missense	probably damaging	1.00
IGL01763:Cdh7	APN	1	110,065,790 (GRCm38)	missense	probably benign	0.00
IGL01765:Cdh7	APN	1	110,061,106 (GRCm38)	missense	probably damaging	1.00
IGL01937:Cdh7	APN	1	110,138,096 (GRCm38)	missense	probably benign
IGL02020:Cdh7	APN	1	110,138,348 (GRCm38)	missense	probably damaging	1.00
IGL02135:Cdh7	APN	1	110,138,274 (GRCm38)	nonsense	probably null
IGL02285:Cdh7	APN	1	110,138,191 (GRCm38)	missense	probably damaging	1.00
IGL03237:Cdh7	APN	1	110,138,307 (GRCm38)	missense	possibly damaging	0.89
IGL03280:Cdh7	APN	1	110,108,768 (GRCm38)	nonsense	probably null
IGL03347:Cdh7	APN	1	110,138,243 (GRCm38)	missense	possibly damaging	0.53
IGL03385:Cdh7	APN	1	110,065,786 (GRCm38)	missense	possibly damaging	0.90
IGL02802:Cdh7	UTSW	1	110,137,925 (GRCm38)	missense	probably damaging	1.00
R0030:Cdh7	UTSW	1	110,138,068 (GRCm38)	nonsense	probably null
R0070:Cdh7	UTSW	1	110,098,372 (GRCm38)	missense	probably benign	0.37
R0070:Cdh7	UTSW	1	110,098,372 (GRCm38)	missense	probably benign	0.37
R0255:Cdh7	UTSW	1	109,994,306 (GRCm38)	missense	probably benign	0.09
R0365:Cdh7	UTSW	1	110,108,756 (GRCm38)	missense	probably damaging	1.00
R0506:Cdh7	UTSW	1	110,100,114 (GRCm38)	missense	probably damaging	1.00
R0549:Cdh7	UTSW	1	110,108,944 (GRCm38)	missense	probably damaging	1.00
R0599:Cdh7	UTSW	1	110,052,966 (GRCm38)	missense	probably damaging	1.00
R0648:Cdh7	UTSW	1	110,065,607 (GRCm38)	splice site	probably benign
R1033:Cdh7	UTSW	1	110,085,053 (GRCm38)	missense	probably damaging	0.96
R1173:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1174:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1175:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1403:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1403:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1406:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1587:Cdh7	UTSW	1	110,100,027 (GRCm38)	missense	probably damaging	0.98
R1728:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1729:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1730:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1739:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1762:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1769:Cdh7	UTSW	1	110,052,876 (GRCm38)	missense	probably damaging	1.00
R1783:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1785:Cdh7	UTSW	1	110,065,735 (GRCm38)	missense	possibly damaging	0.53
R1940:Cdh7	UTSW	1	110,049,024 (GRCm38)	missense	probably benign	0.09
R1972:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1973:Cdh7	UTSW	1	110,061,132 (GRCm38)	missense	probably benign	0.10
R1997:Cdh7	UTSW	1	110,048,938 (GRCm38)	missense	probably damaging	1.00
R2060:Cdh7	UTSW	1	110,048,877 (GRCm38)	missense	probably damaging	1.00
R2068:Cdh7	UTSW	1	110,137,936 (GRCm38)	nonsense	probably null
R2069:Cdh7	UTSW	1	110,138,159 (GRCm38)	missense	probably damaging	1.00
R2137:Cdh7	UTSW	1	110,100,106 (GRCm38)	missense	probably damaging	0.97
R2155:Cdh7	UTSW	1	110,048,864 (GRCm38)	missense	probably damaging	1.00
R3780:Cdh7	UTSW	1	110,049,004 (GRCm38)	missense	probably benign	0.45
R3781:Cdh7	UTSW	1	110,049,004 (GRCm38)	missense	probably benign	0.45
R3782:Cdh7	UTSW	1	110,049,004 (GRCm38)	missense	probably benign	0.45
R4115:Cdh7	UTSW	1	110,138,309 (GRCm38)	missense	probably benign	0.37
R4277:Cdh7	UTSW	1	110,065,688 (GRCm38)	missense	probably benign	0.00
R4299:Cdh7	UTSW	1	110,061,001 (GRCm38)	missense	probably damaging	0.99
R4777:Cdh7	UTSW	1	109,994,325 (GRCm38)	nonsense	probably null
R4907:Cdh7	UTSW	1	110,138,323 (GRCm38)	missense	probably damaging	1.00
R5045:Cdh7	UTSW	1	110,098,350 (GRCm38)	missense	probably benign	0.01
R5059:Cdh7	UTSW	1	110,065,700 (GRCm38)	missense	probably damaging	0.98
R5146:Cdh7	UTSW	1	109,994,312 (GRCm38)	missense	probably damaging	0.97
R5196:Cdh7	UTSW	1	110,138,000 (GRCm38)	missense	probably damaging	0.99
R5304:Cdh7	UTSW	1	110,108,839 (GRCm38)	missense	probably damaging	1.00
R5496:Cdh7	UTSW	1	110,048,917 (GRCm38)	missense	probably damaging	1.00
R5743:Cdh7	UTSW	1	110,108,845 (GRCm38)	missense	probably damaging	1.00
R5867:Cdh7	UTSW	1	110,048,851 (GRCm38)	missense	probably damaging	1.00
R6042:Cdh7	UTSW	1	110,138,267 (GRCm38)	missense	probably damaging	0.97
R6092:Cdh7	UTSW	1	110,098,306 (GRCm38)	missense	probably benign	0.00
R6497:Cdh7	UTSW	1	110,065,798 (GRCm38)	critical splice donor site	probably null
R7111:Cdh7	UTSW	1	110,137,908 (GRCm38)	missense
R7511:Cdh7	UTSW	1	109,997,853 (GRCm38)	intron	probably benign
R7532:Cdh7	UTSW	1	110,138,159 (GRCm38)	missense	probably damaging	1.00
R7879:Cdh7	UTSW	1	110,048,947 (GRCm38)	missense	probably benign	0.01
R7978:Cdh7	UTSW	1	109,994,105 (GRCm38)	start gained	probably benign
R8022:Cdh7	UTSW	1	110,061,108 (GRCm38)	missense	probably benign	0.02
R8207:Cdh7	UTSW	1	109,994,346 (GRCm38)	missense	probably damaging	1.00
R8224:Cdh7	UTSW	1	109,994,203 (GRCm38)	missense	probably benign
R8239:Cdh7	UTSW	1	110,100,102 (GRCm38)	missense	probably benign	0.11
R8749:Cdh7	UTSW	1	110,099,279 (GRCm38)	missense	probably damaging	1.00
R8884:Cdh7	UTSW	1	110,100,130 (GRCm38)	missense	probably damaging	1.00
R9030:Cdh7	UTSW	1	110,100,113 (GRCm38)	missense	probably benign	0.21
R9498:Cdh7	UTSW	1	110,048,905 (GRCm38)	missense	probably benign	0.03
R9658:Cdh7	UTSW	1	110,061,055 (GRCm38)	missense	probably damaging	0.99
Z1088:Cdh7	UTSW	1	110,085,123 (GRCm38)	missense	probably benign	0.01
Z1176:Cdh7	UTSW	1	110,108,736 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACCAGTTAAGATAGGCATGACTCAGA -3'
(R):5'- AGGCCCTTGATGAAATGCAAAATTAGGA -3'

Sequencing Primer
(F):5'- agataggcatgactcagagtaac -3'
(R):5'- ATGAAATGCAAAATTAGGAGAAAGTC -3'

Posted On

2014-05-09