Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Cdh7'

224258

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

040007-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110048938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 111 (D111V)

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: D111V

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

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: D111V

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: D111V

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

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: D111V

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: D111V

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

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: D111V

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	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
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'- TCTTACAGCTGTGACATGAAAGTG -3'
(R):5'- ATGCTCCTTACTTACCTACAGGAG -3'

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

Posted On

2014-08-25