Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Cdh7'

47543

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

038701-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110100114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 530 (N530D)

Ref Sequence

ENSEMBL: ENSMUSP00000129715 (fasta)

Gene Model

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

AlphaFold

Q8BM92

Predicted Effect

probably damaging
Transcript: ENSMUST00000027542
AA Change: N530D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: N530D

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: N530D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: N530D

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

unknown
Transcript: ENSMUST00000134301
AA Change: N50D

SMART Domains

Protein: ENSMUSP00000123394
Gene: ENSMUSG00000026312
AA Change: N50D

Domain	Start	End	E-Value	Type
CA	24	111	2.26e-9	SMART
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172005
AA Change: N530D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: N530D

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

0.7026

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	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
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
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'- ACAGTGGCTTTGGCTTGTCCATC -3'
(R):5'- ACCTAACACTTCTAATTTGGCTCTGTGC -3'

Sequencing Primer
(F):5'- CTTCAAACGTGCTTTAAAAGGGAC -3'
(R):5'- CTAATTTGGCTCTGTGCTAAAATG -3'

Posted On

2013-06-12