Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Cdh8'

23439

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

MMRRC Submission

038455-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 #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99024471-99416471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99190434 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 350 (S350P)

Ref Sequence

ENSEMBL: ENSMUSP00000122493 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093249
AA Change: S350P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: S350P

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

noncoding transcript
Transcript: ENSMUST00000126895

Predicted Effect

probably damaging
Transcript: ENSMUST00000128860
AA Change: S350P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: S350P

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

possibly damaging
Transcript: ENSMUST00000142129
AA Change: S350P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: S350P

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 damaging
Transcript: ENSMUST00000145601
AA Change: S350P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: S350P

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

possibly damaging
Transcript: ENSMUST00000155527
AA Change: S350P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: S350P

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hars2	C	T	18: 36,789,204	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nisch	T	C	14: 31,203,394		probably benign	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698		probably null	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	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
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
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
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'- TCCAATGAAGCACCGTGTACAACAG -3'
(R):5'- GGGGAAACGTAGCCCATTAAGAGTC -3'

Sequencing Primer
(F):5'- ATATCAGGGTCACGAGCTGTC -3'
(R):5'- GTCACAAACTAGCTTAAATGGGAATC -3'

Posted On

2013-04-16