Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Cdh8'

369220

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99751103-100143103 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99751558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 720 (R720*)

Ref Sequence

ENSEMBL: ENSMUSP00000123619 (fasta)

Gene Model

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

AlphaFold

P97291

Predicted Effect

probably benign
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 benign
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

silent
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 null
Transcript: ENSMUST00000155527
AA Change: R720*

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: R720*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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. 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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,843 (GRCm39)	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,747,726 (GRCm39)	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,479,149 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,618,888 (GRCm39)	S813P	probably benign	Het
Atp13a3	T	A	16: 30,160,058 (GRCm39)	I716F	probably damaging	Het
Atp6v1c1	T	A	15: 38,689,420 (GRCm39)	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,030,793 (GRCm39)	A1312S	probably benign	Het
Bcl2	A	T	1: 106,640,338 (GRCm39)	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,607,263 (GRCm39)	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,324,673 (GRCm39)	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,828 (GRCm39)	M75L	probably benign	Het
Ccdc122	T	G	14: 77,349,047 (GRCm39)		probably benign	Het
Ccdc57	T	G	11: 120,772,683 (GRCm39)	R645S	possibly damaging	Het
Cenpx	T	G	11: 120,602,610 (GRCm39)		probably benign	Het
Clic3	T	C	2: 25,348,194 (GRCm39)	S114P	probably damaging	Het
Cracdl	A	T	1: 37,664,046 (GRCm39)	D617E	probably benign	Het
Crtac1	A	T	19: 42,312,240 (GRCm39)	W158R	possibly damaging	Het
Dennd2b	C	T	7: 109,156,240 (GRCm39)	G170D	probably damaging	Het
Dhrs11	T	A	11: 84,719,626 (GRCm39)	Q33L	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpp9	G	T	17: 56,498,016 (GRCm39)	Q647K	probably damaging	Het
Egf	C	T	3: 129,510,327 (GRCm39)	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,346,864 (GRCm39)		probably benign	Het
Epas1	A	G	17: 87,113,267 (GRCm39)	N151S	probably benign	Het
Fastkd1	A	T	2: 69,521,651 (GRCm39)	I707K	probably benign	Het
Fbln2	A	G	6: 91,246,168 (GRCm39)	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,851,363 (GRCm39)	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637 (GRCm39)	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139 (GRCm39)	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,819,396 (GRCm39)		noncoding transcript	Het
Gm5145	G	T	17: 20,790,810 (GRCm39)	V63F	probably damaging	Het
Gm9970	G	T	5: 31,398,429 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,787,993 (GRCm39)	T545A	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Herc6	A	T	6: 57,581,151 (GRCm39)	I284F	probably damaging	Het
Hook1	C	G	4: 95,890,794 (GRCm39)	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,084,491 (GRCm39)	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096 (GRCm39)		probably benign	Het
Ildr1	A	T	16: 36,542,917 (GRCm39)	H439L	possibly damaging	Het
Itga11	A	G	9: 62,684,009 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,880,252 (GRCm39)	D337E	probably benign	Het
Krt82	C	T	15: 101,458,923 (GRCm39)	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,666,475 (GRCm39)	M1K	probably null	Het
Lrrc32	T	G	7: 98,148,224 (GRCm39)	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,829,650 (GRCm39)	V20E	probably damaging	Het
Lyar	T	A	5: 38,385,230 (GRCm39)	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,048,469 (GRCm39)	R778*	probably null	Het
Mapk6	A	G	9: 75,295,714 (GRCm39)	F595L	probably benign	Het
Mccc1	A	G	3: 36,039,150 (GRCm39)	I281T	probably damaging	Het
Mep1b	T	C	18: 21,226,311 (GRCm39)	V391A	probably damaging	Het
Mier1	G	A	4: 102,988,195 (GRCm39)	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432 (GRCm39)	H38R	probably benign	Het
Mroh4	A	G	15: 74,498,028 (GRCm39)	L184P	probably damaging	Het
Muc2	C	A	7: 141,307,877 (GRCm39)	N834K	probably benign	Het
Mycl	A	G	4: 122,894,049 (GRCm39)	D283G	probably damaging	Het
Myh6	T	C	14: 55,190,750 (GRCm39)	N975S	probably damaging	Het
Myl12a	A	G	17: 71,303,297 (GRCm39)		probably benign	Het
Mysm1	T	C	4: 94,853,910 (GRCm39)	T230A	probably benign	Het
Naca	A	G	10: 127,883,672 (GRCm39)	K2099R	probably null	Het
Nbeal1	T	G	1: 60,261,352 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,534,772 (GRCm39)	V246A	probably benign	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Ninl	G	A	2: 150,801,801 (GRCm39)	R156*	probably null	Het
Obscn	T	A	11: 58,960,685 (GRCm39)	I3418F	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Pappa2	T	C	1: 158,684,949 (GRCm39)	N730S	probably damaging	Het
Pcm1	G	A	8: 41,746,715 (GRCm39)	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,158,938 (GRCm39)	I485N	probably damaging	Het
Phldb2	T	C	16: 45,646,237 (GRCm39)	R111G	probably damaging	Het
Prdm10	T	C	9: 31,252,569 (GRCm39)	F385S	probably damaging	Het
Prkcsh	C	T	9: 21,923,034 (GRCm39)	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,286,204 (GRCm39)	D251G	probably damaging	Het
Radil	A	G	5: 142,470,918 (GRCm39)	F1088L	probably benign	Het
Rere	C	A	4: 150,699,624 (GRCm39)		probably benign	Het
Rnf167	T	A	11: 70,540,961 (GRCm39)	C196S	probably benign	Het
Robo2	T	A	16: 74,149,633 (GRCm39)	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,621,371 (GRCm39)	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,743,780 (GRCm39)	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,851,211 (GRCm39)	L369S	probably benign	Het
Sgpl1	A	T	10: 60,959,123 (GRCm39)	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc1a6	A	T	10: 78,635,952 (GRCm39)	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,667,048 (GRCm39)	Y1781*	probably null	Het
Smg1	T	C	7: 117,779,697 (GRCm39)	S1233G	probably benign	Het
Snap91	A	T	9: 86,665,507 (GRCm39)		probably benign	Het
Snx29	T	A	16: 11,238,600 (GRCm39)	L112Q	probably damaging	Het
Sptbn5	T	C	2: 119,889,622 (GRCm39)		probably benign	Het
Srl	A	T	16: 4,310,222 (GRCm39)	H502Q	possibly damaging	Het
St8sia3	A	G	18: 64,404,820 (GRCm39)	M366V	probably benign	Het
Stk19	A	T	17: 35,041,485 (GRCm39)		probably benign	Het
Syngap1	G	A	17: 27,180,423 (GRCm39)	A611T	probably benign	Het
Tas2r113	A	G	6: 132,870,670 (GRCm39)	T233A	possibly damaging	Het
Tbcc	G	A	17: 47,202,145 (GRCm39)	W177*	probably null	Het
Tcstv3	T	A	13: 120,779,618 (GRCm39)		probably null	Het
Trav13-5	T	A	14: 54,033,408 (GRCm39)	C106S	probably damaging	Het
Trmt61a	G	A	12: 111,645,147 (GRCm39)	V28M	possibly damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Urb1	T	C	16: 90,554,715 (GRCm39)	N1839S	probably benign	Het
Ush2a	T	C	1: 188,475,742 (GRCm39)	L2893P	probably damaging	Het
Usp24	G	A	4: 106,217,359 (GRCm39)	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,846,892 (GRCm39)	E198G	probably benign	Het
Vps13d	A	C	4: 144,904,626 (GRCm39)	S130A	probably damaging	Het
Zfp426	T	A	9: 20,382,310 (GRCm39)	I211F	probably benign	Het
Znfx1	T	C	2: 166,880,489 (GRCm39)		probably null	Het

Other mutations in Cdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cdh8	APN	8	100,006,322 (GRCm39)	missense	probably damaging	0.99
IGL01377:Cdh8	APN	8	99,760,021 (GRCm39)	missense	probably damaging	0.99
IGL01845:Cdh8	APN	8	99,825,586 (GRCm39)	splice site	probably benign
IGL02166:Cdh8	APN	8	99,917,083 (GRCm39)	missense	probably damaging	1.00
IGL02392:Cdh8	APN	8	99,757,387 (GRCm39)	missense	probably damaging	0.96
R0007:Cdh8	UTSW	8	99,957,088 (GRCm39)	nonsense	probably null
R0179:Cdh8	UTSW	8	99,838,344 (GRCm39)	missense	possibly damaging	0.84
R0196:Cdh8	UTSW	8	99,917,066 (GRCm39)	missense	probably damaging	0.99
R0220:Cdh8	UTSW	8	99,838,311 (GRCm39)	missense	probably benign	0.21
R0271:Cdh8	UTSW	8	99,838,347 (GRCm39)	missense	possibly damaging	0.83
R0592:Cdh8	UTSW	8	100,006,110 (GRCm39)	missense	probably damaging	1.00
R0612:Cdh8	UTSW	8	100,127,546 (GRCm39)	missense	probably benign	0.02
R1404:Cdh8	UTSW	8	100,006,250 (GRCm39)	missense	probably damaging	1.00
R1404:Cdh8	UTSW	8	100,006,250 (GRCm39)	missense	probably damaging	1.00
R1588:Cdh8	UTSW	8	99,917,039 (GRCm39)	missense	probably damaging	1.00
R1635:Cdh8	UTSW	8	99,757,656 (GRCm39)	missense	probably damaging	1.00
R1717:Cdh8	UTSW	8	99,757,337 (GRCm39)	missense	probably damaging	1.00
R1781:Cdh8	UTSW	8	100,006,290 (GRCm39)	missense	probably damaging	0.98
R1781:Cdh8	UTSW	8	99,917,094 (GRCm39)	splice site	probably null
R1862:Cdh8	UTSW	8	99,917,026 (GRCm39)	missense	probably damaging	1.00
R1895:Cdh8	UTSW	8	100,006,189 (GRCm39)	missense	possibly damaging	0.84
R1912:Cdh8	UTSW	8	99,825,502 (GRCm39)	missense	probably damaging	1.00
R2005:Cdh8	UTSW	8	99,760,103 (GRCm39)	splice site	probably null
R2142:Cdh8	UTSW	8	99,838,325 (GRCm39)	missense	probably damaging	1.00
R2197:Cdh8	UTSW	8	99,922,897 (GRCm39)	missense	probably damaging	1.00
R2512:Cdh8	UTSW	8	100,127,495 (GRCm39)	missense	probably benign	0.05
R3085:Cdh8	UTSW	8	99,923,018 (GRCm39)	missense	probably benign	0.00
R3436:Cdh8	UTSW	8	100,127,350 (GRCm39)	splice site	probably benign
R3898:Cdh8	UTSW	8	99,898,005 (GRCm39)	missense	probably damaging	0.98
R4470:Cdh8	UTSW	8	100,143,321 (GRCm39)	unclassified	probably benign
R4615:Cdh8	UTSW	8	100,006,254 (GRCm39)	missense	probably damaging	1.00
R4652:Cdh8	UTSW	8	99,751,491 (GRCm39)	missense	probably benign
R4666:Cdh8	UTSW	8	99,751,534 (GRCm39)	missense	possibly damaging	0.71
R4871:Cdh8	UTSW	8	99,757,536 (GRCm39)	missense	probably damaging	1.00
R5170:Cdh8	UTSW	8	100,006,182 (GRCm39)	missense	probably damaging	1.00
R5406:Cdh8	UTSW	8	99,923,002 (GRCm39)	missense	probably damaging	1.00
R5564:Cdh8	UTSW	8	99,757,498 (GRCm39)	missense	possibly damaging	0.57
R5686:Cdh8	UTSW	8	99,759,854 (GRCm39)	missense	probably benign	0.00
R6311:Cdh8	UTSW	8	100,127,527 (GRCm39)	missense	probably damaging	0.99
R6786:Cdh8	UTSW	8	99,950,579 (GRCm39)	missense	probably benign	0.19
R6855:Cdh8	UTSW	8	99,916,849 (GRCm39)	missense	probably damaging	0.99
R6950:Cdh8	UTSW	8	99,757,395 (GRCm39)	missense	probably benign	0.18
R7112:Cdh8	UTSW	8	99,922,984 (GRCm39)	missense	probably damaging	1.00
R7181:Cdh8	UTSW	8	99,825,557 (GRCm39)	missense	probably benign
R7384:Cdh8	UTSW	8	99,957,138 (GRCm39)	missense	probably benign
R7400:Cdh8	UTSW	8	100,006,192 (GRCm39)	missense	probably damaging	1.00
R7537:Cdh8	UTSW	8	99,825,517 (GRCm39)	nonsense	probably null
R7763:Cdh8	UTSW	8	100,006,306 (GRCm39)	nonsense	probably null
R8130:Cdh8	UTSW	8	99,757,676 (GRCm39)	missense	probably damaging	0.98
R8215:Cdh8	UTSW	8	99,757,498 (GRCm39)	missense	possibly damaging	0.57
R8314:Cdh8	UTSW	8	99,898,011 (GRCm39)	missense	probably damaging	1.00
R8443:Cdh8	UTSW	8	99,757,672 (GRCm39)	missense	possibly damaging	0.56
R9673:Cdh8	UTSW	8	99,757,367 (GRCm39)	missense	possibly damaging	0.71
R9756:Cdh8	UTSW	8	99,759,976 (GRCm39)	missense	probably damaging	1.00
X0022:Cdh8	UTSW	8	100,006,107 (GRCm39)	missense	probably damaging	1.00
Z1088:Cdh8	UTSW	8	100,006,134 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdh8	UTSW	8	99,916,837 (GRCm39)	missense	probably null	0.89
Z1176:Cdh8	UTSW	8	99,897,955 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TATTGCCCATATCCACACGG -3'
(R):5'- TACCAGTGCTTTGTATGTATGCAC -3'

Sequencing Primer
(F):5'- GTCCCAGAGACCTTTAAATATACAGG -3'
(R):5'- GGCTCAATCTGACTCACA -3'

Posted On

2016-02-04