Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Cdh8'

225378

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

MMRRC Submission

040014-MU

Accession Numbers

Ncbi RefSeq: NM_001039154.1, NM_007667.2; MGI:107434

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99024471-99416471 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 99033471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000145601] [ENSMUST00000155527] [ENSMUST00000155527]

AlphaFold

P97291

Predicted Effect

probably null
Transcript: ENSMUST00000093249

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	712	1.4e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000093249

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	712	1.4e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000128860

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	647	792	7e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000128860

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	647	792	7e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000142129

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	702	5.3e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000142129

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	702	5.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145601

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	502	1.27e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145601

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	502	1.27e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000155527

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	745	1.8e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000155527

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	745	1.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161244

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

Strain: 3707077
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. Mice lacking the encoded protein exhibit reduced behavioral responses to cold, but not thermal stimuli. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal but display abnormal CNS synaptic transmission, raise their tails in response to stress, and show reduced sensitivity to cutaneous cold stimuli. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Atg9a	T	A	1: 75,185,991	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475		probably null	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably damaging	Het

Other mutations in Cdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cdh8	APN	8	99279690	missense	probably damaging	0.99
IGL01377:Cdh8	APN	8	99033389	missense	probably damaging	0.99
IGL01845:Cdh8	APN	8	99098954	splice site	probably benign
IGL02166:Cdh8	APN	8	99190451	missense	probably damaging	1.00
IGL02392:Cdh8	APN	8	99030755	missense	probably damaging	0.96
R0007:Cdh8	UTSW	8	99230456	nonsense	probably null
R0179:Cdh8	UTSW	8	99111712	missense	possibly damaging	0.84
R0196:Cdh8	UTSW	8	99190434	missense	probably damaging	0.99
R0220:Cdh8	UTSW	8	99111679	missense	probably benign	0.21
R0271:Cdh8	UTSW	8	99111715	missense	possibly damaging	0.83
R0592:Cdh8	UTSW	8	99279478	missense	probably damaging	1.00
R0612:Cdh8	UTSW	8	99400914	missense	probably benign	0.02
R1404:Cdh8	UTSW	8	99279618	missense	probably damaging	1.00
R1404:Cdh8	UTSW	8	99279618	missense	probably damaging	1.00
R1588:Cdh8	UTSW	8	99190407	missense	probably damaging	1.00
R1635:Cdh8	UTSW	8	99031024	missense	probably damaging	1.00
R1717:Cdh8	UTSW	8	99030705	missense	probably damaging	1.00
R1781:Cdh8	UTSW	8	99190462	splice site	probably null
R1781:Cdh8	UTSW	8	99279658	missense	probably damaging	0.98
R1862:Cdh8	UTSW	8	99190394	missense	probably damaging	1.00
R1895:Cdh8	UTSW	8	99279557	missense	possibly damaging	0.84
R1912:Cdh8	UTSW	8	99098870	missense	probably damaging	1.00
R2142:Cdh8	UTSW	8	99111693	missense	probably damaging	1.00
R2197:Cdh8	UTSW	8	99196265	missense	probably damaging	1.00
R2512:Cdh8	UTSW	8	99400863	missense	probably benign	0.05
R3085:Cdh8	UTSW	8	99196386	missense	probably benign	0.00
R3436:Cdh8	UTSW	8	99400718	splice site	probably benign
R3898:Cdh8	UTSW	8	99171373	missense	probably damaging	0.98
R4470:Cdh8	UTSW	8	99416689	unclassified	probably benign
R4615:Cdh8	UTSW	8	99279622	missense	probably damaging	1.00
R4652:Cdh8	UTSW	8	99024859	missense	probably benign
R4666:Cdh8	UTSW	8	99024902	missense	possibly damaging	0.71
R4798:Cdh8	UTSW	8	99024926	nonsense	probably null
R4871:Cdh8	UTSW	8	99030904	missense	probably damaging	1.00
R5170:Cdh8	UTSW	8	99279550	missense	probably damaging	1.00
R5406:Cdh8	UTSW	8	99196370	missense	probably damaging	1.00
R5564:Cdh8	UTSW	8	99030866	missense	possibly damaging	0.57
R5686:Cdh8	UTSW	8	99033222	missense	probably benign	0.00
R6311:Cdh8	UTSW	8	99400895	missense	probably damaging	0.99
R6786:Cdh8	UTSW	8	99223947	missense	probably benign	0.19
R6855:Cdh8	UTSW	8	99190217	missense	probably damaging	0.99
R6950:Cdh8	UTSW	8	99030763	missense	probably benign	0.18
R7112:Cdh8	UTSW	8	99196352	missense	probably damaging	1.00
R7181:Cdh8	UTSW	8	99098925	missense	probably benign
R7384:Cdh8	UTSW	8	99230506	missense	probably benign
R7400:Cdh8	UTSW	8	99279560	missense	probably damaging	1.00
R7537:Cdh8	UTSW	8	99098885	nonsense	probably null
R7763:Cdh8	UTSW	8	99279674	nonsense	probably null
R8130:Cdh8	UTSW	8	99031044	missense	probably damaging	0.98
R8215:Cdh8	UTSW	8	99030866	missense	possibly damaging	0.57
R8314:Cdh8	UTSW	8	99171379	missense	probably damaging	1.00
R8443:Cdh8	UTSW	8	99031040	missense	possibly damaging	0.56
R9673:Cdh8	UTSW	8	99030735	missense	possibly damaging	0.71
R9756:Cdh8	UTSW	8	99033344	missense	probably damaging	1.00
X0022:Cdh8	UTSW	8	99279475	missense	probably damaging	1.00
Z1088:Cdh8	UTSW	8	99279502	missense	probably damaging	1.00
Z1176:Cdh8	UTSW	8	99171323	missense	probably benign	0.02
Z1176:Cdh8	UTSW	8	99190205	missense	probably null	0.89

Predicted Primers

PCR Primer
(F):5'- CACGCCATCATTGCTACAGC -3'
(R):5'- GGAAACCATTGTGCATTCTGC -3'

Sequencing Primer
(F):5'- TACAGCCACAGACTCGGATGG -3'
(R):5'- TAAGACCTCAAAATCTTATTCCCCTC -3'

Posted On

2014-08-25