Mutagenetix > Incidental Mutations

Incidental Mutation 'R2069:Cdh7'

226905

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

040074-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110138159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 721 (D721V)

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: D721V

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

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: D721V

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: D721V

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

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: D721V

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: ENSMUST00000134301

SMART Domains

Protein: ENSMUSP00000123394
Gene: ENSMUSG00000026312

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: D721V

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

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: D721V

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

0.9124

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 114,874,280	V86A	probably benign	Het
Abcc3	A	T	11: 94,364,417	I601N	probably damaging	Het
Abl2	T	A	1: 156,620,827		probably null	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,959,996	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,600	G247D	probably damaging	Het
Arid2	C	T	15: 96,362,590	L407F	probably damaging	Het
Atp13a1	T	C	8: 69,799,773	F606L	probably benign	Het
Avl9	T	A	6: 56,736,435		probably benign	Het
B3glct	C	T	5: 149,709,380	A65V	probably damaging	Het
Bcorl1	T	C	X: 48,401,917		probably benign	Het
Bdp1	T	C	13: 100,050,988	T1624A	probably benign	Het
Bmp15	A	G	X: 6,316,021	M263T	probably benign	Het
Brd8	T	C	18: 34,614,479	K110E	probably damaging	Het
Cachd1	A	G	4: 100,990,844	D1052G	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc113	G	A	8: 95,557,296	E333K	probably benign	Het
Ccnl2	A	T	4: 155,812,481		probably null	Het
Ccr9	T	C	9: 123,779,364	F37S	probably benign	Het
Ceacam10	A	T	7: 24,778,372	N104I	probably damaging	Het
Cenpk	T	A	13: 104,236,176		probably benign	Het
Cfi	A	G	3: 129,858,804		probably null	Het
Chd1	T	C	17: 15,742,294	F771S	probably damaging	Het
Chil4	G	A	3: 106,219,455	L4F	probably benign	Het
Cilp	G	A	9: 65,278,090	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725	G402R	probably benign	Het
Coq8b	A	G	7: 27,257,377	E485G	probably damaging	Het
Cse1l	A	G	2: 166,941,492	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,388		probably null	Het
Dnmt3l	T	C	10: 78,052,732	V156A	probably damaging	Het
Duox1	A	T	2: 122,333,062	T792S	probably benign	Het
Duox2	T	C	2: 122,287,108	D915G	probably benign	Het
Efcab5	A	T	11: 77,172,321	M115K	probably benign	Het
Eif2s1	G	A	12: 78,877,185	D139N	probably benign	Het
Erg	A	G	16: 95,361,078	F390L	probably damaging	Het
Fam193b	A	T	13: 55,542,998	S650R	probably damaging	Het
Fbp2	T	A	13: 62,854,061	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,758,372	S496A	probably damaging	Het
Gab3	C	A	X: 75,000,095	R475L	probably damaging	Het
Gm7534	T	G	4: 134,201,941	N351T	possibly damaging	Het
Gsap	T	C	5: 21,226,839		probably benign	Het
Gucy1a2	C	T	9: 3,582,697	L160F	probably damaging	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Hrasls5	T	C	19: 7,612,638	S10P	possibly damaging	Het
Insc	G	T	7: 114,804,593		probably null	Het
Jph2	A	G	2: 163,339,685	S520P	possibly damaging	Het
Kidins220	T	A	12: 24,987,006		probably benign	Het
Krtap29-1	A	G	11: 99,978,612	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,793,733	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,950,027	F294S	probably damaging	Het
Map4k2	C	A	19: 6,342,738		probably benign	Het
Mboat2	T	C	12: 24,951,443	V281A	probably benign	Het
Mdga2	G	A	12: 66,568,917	R570*	probably null	Het
Mlxipl	A	G	5: 135,107,005	D28G	probably damaging	Het
Morc2b	T	C	17: 33,136,760	I679M	probably benign	Het
Myh4	T	C	11: 67,246,366		probably benign	Het
Nfib	A	C	4: 82,498,615	L61R	probably damaging	Het
Noc2l	C	A	4: 156,241,450	Y227*	probably null	Het
Nrde2	A	G	12: 100,142,232	S367P	probably damaging	Het
Nup93	C	A	8: 94,243,739	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1283	A	G	2: 111,369,095	I154M	probably benign	Het
Olfr6	A	T	7: 106,956,287	Y216*	probably null	Het
Olfr714	A	T	7: 107,074,619	K264*	probably null	Het
Olfr749	T	A	14: 50,736,576	E195D	possibly damaging	Het
Olfr824	A	G	10: 130,126,205	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,092,525	A319S	probably null	Het
P2ry10	A	G	X: 107,103,253	S265G	probably benign	Het
Peak1	A	T	9: 56,258,759	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,821,231	Q168L	probably benign	Het
Plec	A	G	15: 76,188,926	M604T	probably benign	Het
Pmfbp1	A	T	8: 109,532,103	N680I	possibly damaging	Het
Pnmal2	T	C	7: 16,945,789	W233R	probably damaging	Het
Pxn	A	G	5: 115,545,667	N186S	probably benign	Het
Rsad1	A	C	11: 94,549,125		probably benign	Het
Runx2	A	G	17: 44,735,342	I112T	probably benign	Het
S1pr2	A	T	9: 20,967,494	L346Q	probably damaging	Het
Skint6	A	G	4: 113,238,132	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,726,980	F234Y	probably damaging	Het
Slitrk2	T	A	X: 66,654,629	V242D	probably damaging	Het
Sp100	A	G	1: 85,681,142		probably null	Het
Spryd3	A	C	15: 102,118,181	L352V	probably benign	Het
Ssc4d	A	C	5: 135,970,317	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870	D83E	probably damaging	Het
Tlk2	A	T	11: 105,240,440	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,037,938	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,766,087	D1154E	unknown	Het
Trap1	A	G	16: 4,068,336	S86P	probably benign	Het
Trim32	T	A	4: 65,614,776	C523*	probably null	Het
Ttc38	G	T	15: 85,838,788	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,631,796	L131Q	probably damaging	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ttn	T	C	2: 76,726,848		probably benign	Het
Ubash3b	G	A	9: 41,043,573	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,948,099	N367S	probably damaging	Het
Ubr4	T	A	4: 139,479,540	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,224,483	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,556,098	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 42,300,001	D615G	probably benign	Het
Wdr24	T	A	17: 25,826,282	D330E	probably damaging	Het
Zbbx	A	T	3: 75,078,412	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,792,328	Q757L	probably 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
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
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
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'- AGAAGACACAGAAGCCTTTGAC -3'
(R):5'- TTCCAAAGTAAGGGTCCAAGG -3'

Sequencing Primer
(F):5'- ACAGAAGCCTTTGACATGGC -3'
(R):5'- TTCCAAAGTAAGGGTCCAAGGCTATG -3'

Posted On

2014-09-17