Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Cdh7'

617413

Institutional Source

Beutler Lab

Gene Symbol

Cdh7

Ensembl Gene

ENSMUSG00000026312

Gene Name

cadherin 7, type 2

Synonyms

CDH7L1

MMRRC Submission

067461-MU

Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109982431-110140157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110061108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 247 (S247T)

Ref Sequence

ENSEMBL: ENSMUSP00000027542 (fasta)

Gene Model

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

AlphaFold

Q8BM92

Predicted Effect

probably benign
Transcript: ENSMUST00000027542
AA Change: S247T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: S247T

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: S247T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: S247T

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: S247T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: S247T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		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
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
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'- CAGTTAAGATAGGCATGACTCAGAG -3'
(R):5'- GTTAGGCCCTTGATGAAATGC -3'

Sequencing Primer
(F):5'- ATTGACGTTCATTGCTACTGTAATGC -3'
(R):5'- GGCCCTTGATGAAATGCAAAATTAG -3'

Posted On

2020-01-23