Mutagenetix > Incidental Mutations

Incidental Mutation 'R5496:Cdh7'

432318

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

043057-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110048917 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 104 (I104N)

Ref Sequence

ENSEMBL: ENSMUSP00000129715 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027542
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: I104N

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 damaging
Transcript: ENSMUST00000112701
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: I104N

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 damaging
Transcript: ENSMUST00000172005
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: I104N

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,674,818	V84I	probably benign	Het
Adam10	T	G	9: 70,722,739	F151C	probably damaging	Het
Akap6	A	G	12: 53,140,653	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,967,614		probably null	Het
Atmin	A	G	8: 116,957,172	T524A	probably benign	Het
Bicra	C	T	7: 15,987,841	V584I	probably benign	Het
Carmil1	G	A	13: 24,155,450	R54C	probably damaging	Het
Cbln1	A	G	8: 87,471,696	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,563,363	V40A	probably benign	Het
Cdt1	C	T	8: 122,570,500	R311W	probably damaging	Het
Col12a1	A	G	9: 79,602,185		probably benign	Het
Csf2rb	A	G	15: 78,340,561	E173G	probably damaging	Het
Cyb561	A	G	11: 105,937,719	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,467,531	K34M	probably damaging	Het
Diras2	C	T	13: 52,507,750	V174M	probably benign	Het
Dnah7a	T	G	1: 53,457,768	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,860,051	E434G	probably damaging	Het
Ebag9	T	G	15: 44,640,420	*214E	probably null	Het
Egln3	A	T	12: 54,203,324	W80R	probably damaging	Het
Eps15l1	A	G	8: 72,382,775	Y336H	probably benign	Het
Gak	A	G	5: 108,576,617	S1076P	probably benign	Het
Glra1	T	C	11: 55,527,415	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,745,207	M108K	probably damaging	Het
Gm3604	A	T	13: 62,371,579	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,201,157		probably benign	Het
Gmcl1	G	T	6: 86,697,525	A457D	probably damaging	Het
H2-M11	T	C	17: 36,547,979	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,208,520	W3S	probably damaging	Het
Il22	T	G	10: 118,205,097	V36G	possibly damaging	Het
Ints1	G	A	5: 139,755,198	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,630,053	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,609,490	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,913,742	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,730,190	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,784,182	D948G	probably benign	Het
Krba1	A	G	6: 48,406,356	T229A	possibly damaging	Het
Leprot	T	A	4: 101,657,896	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,927,973	D2415G	probably benign	Het
Maats1	A	G	16: 38,321,493	I359T	probably damaging	Het
Mnd1	T	A	3: 84,088,174	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,098,814	Y339*	probably null	Het
Nfatc2	G	A	2: 168,536,278	T268M	probably damaging	Het
Olfr1097	G	T	2: 86,890,314	P287Q	probably damaging	Het
Olfr1097	G	C	2: 86,890,315	P287A	probably damaging	Het
Olfr116	T	C	17: 37,624,578	D19G	probably benign	Het
Olfr653	G	C	7: 104,580,494	A283P	probably damaging	Het
Pan3	G	A	5: 147,527,128		probably null	Het
Pde6a	A	T	18: 61,253,665		probably null	Het
Prss39	T	C	1: 34,500,261	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,670,347	S507G	probably benign	Het
Rif1	T	C	2: 52,098,916	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Smurf1	C	A	5: 144,882,593	E601*	probably null	Het
Stau2	T	C	1: 16,390,021	S231G	probably damaging	Het
Timp2	T	G	11: 118,303,881	M161L	probably benign	Het
Tlr5	T	C	1: 182,973,632	L167P	probably damaging	Het
Trhr	G	A	15: 44,197,536	A151T	probably benign	Het
Unc13d	A	G	11: 116,066,708	V807A	probably damaging	Het
Usp2	T	C	9: 44,085,208	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,209,779	T447A	probably damaging	Het
Zan	A	G	5: 137,436,345	I2232T	unknown	Het
Zfp12	C	A	5: 143,244,795	C292*	probably null	Het
Zfp850	A	C	7: 28,007,346	M43R	probably damaging	Het
Zic5	G	A	14: 122,459,343	T620M	unknown	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
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
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
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'- TTCTTACAGCTGTGACATGAAAGTG -3'
(R):5'- ATGCTCCTTACTTACCTACAGGAG -3'

Sequencing Primer
(F):5'- GCTGTGACATGAAAGTGATTTTTAC -3'
(R):5'- TTACCTACAGGAGACATCTCAGG -3'

Posted On

2016-10-05