Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Cdh8'

598034

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

MMRRC Submission

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99024471-99416471 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99279674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 94 (K94*)

Ref Sequence

ENSEMBL: ENSMUSP00000117326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000142475] [ENSMUST00000145601] [ENSMUST00000155527]

AlphaFold

P97291

PDB Structure

Crystal Structure of Cadherin8 EC1 domain [X-RAY DIFFRACTION]
Crystal structure of mouse cadherin-8 EC1-3 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000093249
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: K94*

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
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: K94*

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
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: K94*

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: ENSMUST00000142475
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000115977
Gene: ENSMUSG00000036510
AA Change: K94*

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
Pfam:Cadherin	172	242	2.2e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145601
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: K94*

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
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: K94*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,514,602	W899R	probably damaging	Het
Abca5	A	T	11: 110,272,497	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,527,368	D25V	probably damaging	Het
Akap10	G	C	11: 61,915,505	D132E	probably damaging	Het
Angptl2	G	T	2: 33,242,382	E334*	probably null	Het
Aprt	T	C	8: 122,574,935	R165G	probably benign	Het
B020004J07Rik	T	C	4: 101,837,141	I182V	possibly damaging	Het
Bmp1	A	G	14: 70,492,084	F549S	probably damaging	Het
Capzb	C	T	4: 139,280,553	T215I	probably benign	Het
Car14	C	T	3: 95,904,372	M1I	probably null	Het
Ccdc148	T	A	2: 58,823,636	Q501L	probably benign	Het
Ccdc32	G	A	2: 119,027,347	T12I	probably damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,573,834	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,312,577	S2670R	probably damaging	Het
Cdhr2	A	T	13: 54,717,692	Y193F	probably damaging	Het
Cdon	T	A	9: 35,454,415	Y153*	probably null	Het
Chd1	G	A	17: 15,733,041	G413R	probably damaging	Het
Cit	A	T	5: 115,987,001	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,964,340	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,645	D253E	probably damaging	Het
Cyhr1	A	T	15: 76,658,547	Y138N	probably damaging	Het
Cyp2c40	T	A	19: 39,807,168	N189I	possibly damaging	Het
Daam2	G	T	17: 49,490,022	A245E	probably benign	Het
Dennd5b	A	G	6: 149,068,658	F121S	probably damaging	Het
Dgkd	A	G	1: 87,926,949	T658A	probably benign	Het
Dmwd	T	A	7: 19,080,340	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,313,855	Y1939F	probably damaging	Het
Dock5	T	C	14: 67,821,327	T512A	probably damaging	Het
Dopey2	T	A	16: 93,755,514	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,618,529	H207R	probably damaging	Het
Egfr	T	C	11: 16,891,266	V719A	probably damaging	Het
Ep300	A	T	15: 81,586,583		probably benign	Het
Epha4	A	G	1: 77,390,031		probably null	Het
Erc2	T	G	14: 27,876,204		probably null	Het
Ergic1	A	T	17: 26,638,827	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,326,633	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478	T1841S	probably benign	Het
Foxc1	G	A	13: 31,808,028	S274N	probably benign	Het
Fto	C	T	8: 91,409,443	T115M	probably damaging	Het
Gm10228	C	G	16: 89,041,299	C39S	unknown	Het
Gm7334	T	C	17: 50,698,715	F10L	possibly damaging	Het
Hfm1	A	G	5: 106,881,861	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,159,461	S1726T	probably benign	Het
Htt	G	T	5: 34,852,190	C1505F	probably damaging	Het
Hydin	T	C	8: 110,505,843	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,642,879	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,399,293	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,153,207	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,910,579	S59P	probably benign	Het
Iglv1	A	G	16: 19,085,489		probably benign	Het
Ipo7	T	A	7: 110,052,799	D928E	possibly damaging	Het
Itgae	G	T	11: 73,123,269		probably null	Het
Kbtbd12	T	A	6: 88,618,197	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,300,006	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,516,383	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,491,046	Y10F	probably benign	Het
Lrp2	A	T	2: 69,503,388	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,708,640	D355E	probably benign	Het
Mri1	T	C	8: 84,251,028	H226R		Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Muc4	T	A	16: 32,753,311	L1063H	probably benign	Het
Mzf1	A	T	7: 13,044,091	I541N	probably damaging	Het
Nasp	T	A	4: 116,612,033	E116D	probably benign	Het
Nlrp10	T	A	7: 108,925,826	E149V	probably damaging	Het
Notch4	G	A	17: 34,582,418	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,720,698	I147L	unknown	Het
Ogdh	A	G	11: 6,338,558	M223V	probably benign	Het
Olfr1391	G	T	11: 49,327,671	A87S	probably benign	Het
Olfr444	T	C	6: 42,955,789	I97T	probably benign	Het
Olfr732	A	T	14: 50,281,488	I255N	probably damaging	Het
Olfr792	G	T	10: 129,541,455	R306L	probably benign	Het
P3h3	T	C	6: 124,854,432	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,411,882	T4A	not run	Het
Pkd2l2	A	T	18: 34,433,287		probably null	Het
Plekhb1	C	T	7: 100,645,663	V168I	probably benign	Het
Plxna4	C	T	6: 32,223,980	R753H	probably damaging	Het
Prex1	G	C	2: 166,713,709	P4A	unknown	Het
Ptgdr	A	G	14: 44,859,078	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,757,955	I519F	probably benign	Het
Rbpms	A	G	8: 33,789,453	I170T	probably benign	Het
Sec31b	T	A	19: 44,523,835		probably null	Het
Skint11	A	T	4: 114,227,708	Y138F	probably benign	Het
Slain2	A	G	5: 72,948,610	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,676,224	C503*	probably null	Het
Slfn3	A	T	11: 83,214,788	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,444,765	Y443H	probably damaging	Het
Sorl1	T	A	9: 42,043,909	E683D	probably damaging	Het
Sos1	T	A	17: 80,413,713	I893L	probably benign	Het
St8sia2	T	A	7: 73,943,321	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570	S212*	probably null	Het
Syne3	C	T	12: 104,997,495		probably benign	Het
Tenm4	T	A	7: 96,895,692	I2342N	probably benign	Het
Tescl	T	A	7: 24,333,263	E212D	probably benign	Het
Trip11	A	G	12: 101,844,855	S1879P	probably benign	Het
Ube2c	A	T	2: 164,771,291		probably null	Het
Umodl1	T	A	17: 30,986,456	I675N	probably benign	Het
Vipr2	T	C	12: 116,122,718	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,620,669	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,410,913	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,603,118	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 85,005,701	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,080,535	F600L	probably benign	Het
Vps13a	T	A	19: 16,746,000	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,741,162	D747A	possibly damaging	Het
Xdh	G	A	17: 73,934,834	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,998,348		probably null	Het
Zfp362	T	A	4: 128,787,031	H180L	probably benign	Het
Zfp560	A	T	9: 20,347,323	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,172,664	Q569L	probably benign	Het
Zfp93	T	A	7: 24,275,218	D209E	possibly 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
R2005:Cdh8	UTSW	8	99033471	splice site	probably null
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
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'- GCATTGTCGTTGATATCTTGAACC -3'
(R):5'- AGAGGCTGGTCTAGATGAAGTTC -3'

Sequencing Primer
(F):5'- TAATAAATTCAGAAGGAGGCTCAAGG -3'
(R):5'- AGGCTGGTCTAGATGAAGTTCATTAG -3'

Posted On

2019-11-26