Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Cdh7'

160425

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

039465-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1403 (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: 99.3%
3x: 97.5%
10x: 88.5%
20x: 65.0%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	G	T	11: 94,562,874	N420K	probably benign	Het
Adam26a	A	T	8: 43,569,192	C420*	probably null	Het
Afap1l1	T	C	18: 61,741,838	Y424C	probably damaging	Het
Agl	A	G	3: 116,782,597	V553A	probably benign	Het
Akr7a5	T	A	4: 139,318,123	M325K	probably damaging	Het
Aldh7a1	C	A	18: 56,559,269	E87*	probably null	Het
Arhgap29	A	G	3: 121,973,929	K7E	probably damaging	Het
Brca2	T	A	5: 150,542,649	D1959E	probably benign	Het
Chil5	G	T	3: 106,018,093	Q171K	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,811,650	I155F	probably damaging	Het
Dip2c	A	G	13: 9,553,264		probably null	Het
Fam124b	T	C	1: 80,213,339	Y109C	possibly damaging	Het
Gak	T	A	5: 108,591,145	K156M	probably damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Got1l1	C	G	8: 27,200,717		probably null	Het
Grm1	T	C	10: 11,080,135	D135G	probably benign	Het
Hrh3	T	G	2: 180,102,754	D131A	probably damaging	Het
Hspg2	C	T	4: 137,540,100	L2042F	possibly damaging	Het
Itpr1	A	T	6: 108,389,553	Q979L	probably null	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,581,891		probably null	Het
Ltbp4	T	C	7: 27,329,039	N266S	unknown	Het
Mgam	G	A	6: 40,666,881	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 47,235,638	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023	I115F	probably benign	Het
Nrxn1	A	C	17: 90,643,053	L566R	probably benign	Het
Olfr483	T	A	7: 108,103,615	I102N	probably benign	Het
Prl7d1	A	T	13: 27,709,197	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,317,681	S509P	probably damaging	Het
Rnf44	C	T	13: 54,682,008	E306K	probably damaging	Het
Rp1	T	C	1: 4,346,297	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,173,637		probably null	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Sp110	T	G	1: 85,579,079	E421A	probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Vcan	T	A	13: 89,688,484	E2980D	probably benign	Het
Vwa2	C	T	19: 56,881,138	P2S	unknown	Het
Wdr77	G	A	3: 105,967,257	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,244,780	Y287*	probably null	Het
Zfp937	T	A	2: 150,238,948	Y299*	probably null	Het

Other mutations in Cdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Cdh7	APN	1	110065626	missense	probably benign	0.22
IGL00861:Cdh7	APN	1	110060988	splice site	probably benign
IGL01016:Cdh7	APN	1	110108956	critical splice donor site	probably null
IGL01538:Cdh7	APN	1	110061140	missense	probably damaging	1.00
IGL01763:Cdh7	APN	1	110065790	missense	probably benign	0.00
IGL01765:Cdh7	APN	1	110061106	missense	probably damaging	1.00
IGL01937:Cdh7	APN	1	110138096	missense	probably benign
IGL02020:Cdh7	APN	1	110138348	missense	probably damaging	1.00
IGL02135:Cdh7	APN	1	110138274	nonsense	probably null
IGL02285:Cdh7	APN	1	110138191	missense	probably damaging	1.00
IGL03237:Cdh7	APN	1	110138307	missense	possibly damaging	0.89
IGL03280:Cdh7	APN	1	110108768	nonsense	probably null
IGL03347:Cdh7	APN	1	110138243	missense	possibly damaging	0.53
IGL03385:Cdh7	APN	1	110065786	missense	possibly damaging	0.90
IGL02802:Cdh7	UTSW	1	110137925	missense	probably damaging	1.00
R0030:Cdh7	UTSW	1	110138068	nonsense	probably null
R0070:Cdh7	UTSW	1	110098372	missense	probably benign	0.37
R0070:Cdh7	UTSW	1	110098372	missense	probably benign	0.37
R0255:Cdh7	UTSW	1	109994306	missense	probably benign	0.09
R0365:Cdh7	UTSW	1	110108756	missense	probably damaging	1.00
R0506:Cdh7	UTSW	1	110100114	missense	probably damaging	1.00
R0549:Cdh7	UTSW	1	110108944	missense	probably damaging	1.00
R0599:Cdh7	UTSW	1	110052966	missense	probably damaging	1.00
R0648:Cdh7	UTSW	1	110065607	splice site	probably benign
R1033:Cdh7	UTSW	1	110085053	missense	probably damaging	0.96
R1173:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1174:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1175:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1403:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1406:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1406:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1587:Cdh7	UTSW	1	110100027	missense	probably damaging	0.98
R1728:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1729:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1730:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1739:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1762:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1769:Cdh7	UTSW	1	110052876	missense	probably damaging	1.00
R1783:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1785:Cdh7	UTSW	1	110065735	missense	possibly damaging	0.53
R1940:Cdh7	UTSW	1	110049024	missense	probably benign	0.09
R1972:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1973:Cdh7	UTSW	1	110061132	missense	probably benign	0.10
R1997:Cdh7	UTSW	1	110048938	missense	probably damaging	1.00
R2060:Cdh7	UTSW	1	110048877	missense	probably damaging	1.00
R2068:Cdh7	UTSW	1	110137936	nonsense	probably null
R2069:Cdh7	UTSW	1	110138159	missense	probably damaging	1.00
R2137:Cdh7	UTSW	1	110100106	missense	probably damaging	0.97
R2155:Cdh7	UTSW	1	110048864	missense	probably damaging	1.00
R3780:Cdh7	UTSW	1	110049004	missense	probably benign	0.45
R3781:Cdh7	UTSW	1	110049004	missense	probably benign	0.45
R3782:Cdh7	UTSW	1	110049004	missense	probably benign	0.45
R4115:Cdh7	UTSW	1	110138309	missense	probably benign	0.37
R4277:Cdh7	UTSW	1	110065688	missense	probably benign	0.00
R4299:Cdh7	UTSW	1	110061001	missense	probably damaging	0.99
R4777:Cdh7	UTSW	1	109994325	nonsense	probably null
R4907:Cdh7	UTSW	1	110138323	missense	probably damaging	1.00
R5045:Cdh7	UTSW	1	110098350	missense	probably benign	0.01
R5059:Cdh7	UTSW	1	110065700	missense	probably damaging	0.98
R5146:Cdh7	UTSW	1	109994312	missense	probably damaging	0.97
R5196:Cdh7	UTSW	1	110138000	missense	probably damaging	0.99
R5304:Cdh7	UTSW	1	110108839	missense	probably damaging	1.00
R5496:Cdh7	UTSW	1	110048917	missense	probably damaging	1.00
R5743:Cdh7	UTSW	1	110108845	missense	probably damaging	1.00
R5867:Cdh7	UTSW	1	110048851	missense	probably damaging	1.00
R6042:Cdh7	UTSW	1	110138267	missense	probably damaging	0.97
R6092:Cdh7	UTSW	1	110098306	missense	probably benign	0.00
R6497:Cdh7	UTSW	1	110065798	critical splice donor site	probably null
R7111:Cdh7	UTSW	1	110137908	missense
R7511:Cdh7	UTSW	1	109997853	intron	probably benign
R7532:Cdh7	UTSW	1	110138159	missense	probably damaging	1.00
R7879:Cdh7	UTSW	1	110048947	missense	probably benign	0.01
R7978:Cdh7	UTSW	1	109994105	start gained	probably benign
R8022:Cdh7	UTSW	1	110061108	missense	probably benign	0.02
R8207:Cdh7	UTSW	1	109994346	missense	probably damaging	1.00
R8224:Cdh7	UTSW	1	109994203	missense	probably benign
R8239:Cdh7	UTSW	1	110100102	missense	probably benign	0.11
R8749:Cdh7	UTSW	1	110099279	missense	probably damaging	1.00
R8884:Cdh7	UTSW	1	110100130	missense	probably damaging	1.00
R9030:Cdh7	UTSW	1	110100113	missense	probably benign	0.21
R9498:Cdh7	UTSW	1	110048905	missense	probably benign	0.03
R9658:Cdh7	UTSW	1	110061055	missense	probably damaging	0.99
Z1088:Cdh7	UTSW	1	110085123	missense	probably benign	0.01
Z1176:Cdh7	UTSW	1	110108736	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

2014-03-14