Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Cdh8'

210406

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

MMRRC Submission

039930-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 #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99024471-99416471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99098870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 498 (N498Y)

Ref Sequence

ENSEMBL: ENSMUSP00000122493 (fasta)

Gene Model

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

AlphaFold

P97291

Predicted Effect

probably benign
Transcript: ENSMUST00000093249
AA Change: E538D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: E538D

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
AA Change: E538D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: E538D

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 benign
Transcript: ENSMUST00000142129
AA Change: E538D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: E538D

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: N498Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: N498Y

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: ENSMUST00000155527
AA Change: E538D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: E538D

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: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
2810474O19Rik	T	A	6: 149,328,844	D1129E	possibly damaging	Het
2900092C05Rik	A	G	7: 12,554,655	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205	I45N	possibly damaging	Het
9230113P08Rik	A	T	9: 35,908,619	T23S	probably benign	Het
Abcb6	A	G	1: 75,179,955	V55A	probably benign	Het
Adam28	A	T	14: 68,644,331	D105E	probably benign	Het
Ahnak	T	C	19: 9,017,881	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,921,187	D159A	probably damaging	Het
Alx1	A	G	10: 103,025,361	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,456,776	V481I	probably benign	Het
Aox4	G	T	1: 58,264,402	G1200W	probably damaging	Het
Arhgap45	A	C	10: 80,020,690	D24A	probably benign	Het
Arhgef16	A	T	4: 154,280,323		probably null	Het
Asic4	A	T	1: 75,469,232	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335	E646G	probably damaging	Het
Atg4d	A	G	9: 21,272,639	D350G	probably damaging	Het
Auts2	T	C	5: 131,443,574	T347A	probably damaging	Het
Bsnd	A	T	4: 106,488,030	L73*	probably null	Het
Cachd1	A	T	4: 100,953,169	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,436,449	I1290T	probably damaging	Het
Cdkn3	A	G	14: 46,769,834		probably null	Het
Celf2	A	T	2: 6,615,753	M40K	probably damaging	Het
Cfap57	A	C	4: 118,615,010	S57R	probably damaging	Het
Cfh	A	G	1: 140,136,141		probably null	Het
Chdh	A	G	14: 30,032,788	S252G	probably benign	Het
Col8a1	T	A	16: 57,627,924	I408F	unknown	Het
Corin	C	T	5: 72,358,403	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,557,141	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,233,998		probably null	Het
Cyp4f16	T	C	17: 32,545,044	V270A	probably damaging	Het
Defa29	T	A	8: 21,326,012	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,842,307	N501Y	probably damaging	Het
Dst	A	G	1: 34,291,850	R4690G	probably damaging	Het
Elac2	T	A	11: 64,994,263	D439E	probably benign	Het
Ercc6	A	G	14: 32,576,803	R1383G	probably damaging	Het
Fam69b	A	G	2: 26,632,704	E55G	probably damaging	Het
Fat3	T	A	9: 15,969,988	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,181,543	D342E	probably benign	Het
Fmod	A	G	1: 134,040,720	N166S	possibly damaging	Het
Folh1	A	G	7: 86,762,967	S199P	possibly damaging	Het
Fv1	A	G	4: 147,869,778	N267S	possibly damaging	Het
Fyn	T	C	10: 39,526,832	V200A	possibly damaging	Het
Ggnbp2	T	C	11: 84,862,296	N39S	probably benign	Het
Gm10509	A	T	17: 21,690,924	I53F	possibly damaging	Het
Gpr139	A	T	7: 119,144,879	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,407	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,604,882	M4514I	probably benign	Het
Igsf10	T	G	3: 59,329,572	T1063P	probably benign	Het
Itgav	A	G	2: 83,795,486	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,426,935	Q456R	probably benign	Het
Jph4	G	A	14: 55,108,361	A613V	probably benign	Het
Kcna2	A	G	3: 107,105,401	T433A	probably benign	Het
Kmt2e	A	G	5: 23,492,395	K97R	probably benign	Het
Krba1	C	A	6: 48,415,765	A871E	probably benign	Het
Loxhd1	T	C	18: 77,340,137	F468L	probably benign	Het
Lpin1	A	G	12: 16,546,727	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,785,863	I67F	probably damaging	Het
Mdc1	G	A	17: 35,844,538	R35H	probably benign	Het
Mdc1	A	G	17: 35,850,811	D872G	probably benign	Het
Mgam	C	T	6: 40,764,185	Q959*	probably null	Het
Mttp	T	A	3: 138,116,027	T260S	probably benign	Het
Naalad2	A	T	9: 18,376,535	D266E	probably benign	Het
Nans	T	A	4: 46,500,162	L182H	probably damaging	Het
Nbas	T	A	12: 13,566,144	C2228S	probably benign	Het
Nfix	A	T	8: 84,721,677	V407E	probably damaging	Het
Nktr	T	A	9: 121,750,240		probably benign	Het
Nlrp10	G	A	7: 108,925,395	R293*	probably null	Het
Nrxn3	T	C	12: 88,795,342	F53S	probably damaging	Het
Olfr1126	T	C	2: 87,457,383	S73P	probably damaging	Het
Olfr212	A	G	6: 116,515,989	T71A	probably benign	Het
Olfr380	A	T	11: 73,453,994	F73I	probably damaging	Het
Olfr402	T	C	11: 74,155,885	C244R	probably damaging	Het
Olfr452	T	C	6: 42,790,477	I146T	probably benign	Het
Olfr493	A	G	7: 108,346,807	L58P	probably damaging	Het
Olfr749	G	A	14: 50,736,778	P128L	probably damaging	Het
Olfr994	T	A	2: 85,430,260	N190Y	probably damaging	Het
Oxld1	A	G	11: 120,456,906	V155A	probably damaging	Het
Pamr1	T	A	2: 102,642,300	F648Y	probably damaging	Het
Parg	T	C	14: 32,210,540	W446R	probably damaging	Het
Phf3	A	T	1: 30,804,345	H1844Q	probably damaging	Het
Phf7	T	C	14: 31,240,324	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,187,809		probably null	Het
Plcxd1	A	G	5: 110,103,442	I295V	probably benign	Het
Pole2	A	C	12: 69,209,990	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,244,370	I225F	probably benign	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rnase2b	T	G	14: 51,162,900	V146G	probably damaging	Het
Rnf169	G	A	7: 99,926,254	T378I	probably damaging	Het
Rpf2	A	G	10: 40,236,201	F80L	probably benign	Het
Sec11c	T	A	18: 65,814,874	D128E	probably damaging	Het
Sept12	A	G	16: 4,988,553	V248A	probably damaging	Het
Serinc1	T	C	10: 57,525,451	N82S	probably benign	Het
Serpina9	A	C	12: 104,001,249	W296G	probably damaging	Het
Sgo2b	A	C	8: 63,931,469	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,848,613	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,532,166	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,504,611	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx7	A	T	3: 117,829,668		probably null	Het
Sorl1	A	T	9: 42,081,950	D259E	probably damaging	Het
Stpg2	G	A	3: 139,522,981		probably null	Het
Strn	T	A	17: 78,684,395	Y165F	probably damaging	Het
Sval2	T	A	6: 41,864,320	*106R	probably null	Het
Tcaf3	A	G	6: 42,596,688	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,354,723	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Thoc5	C	A	11: 4,915,561	T380K	probably benign	Het
Tmprss7	T	A	16: 45,656,548	R784*	probably null	Het
Trank1	A	T	9: 111,390,709	L2171F	probably benign	Het
Trpm2	T	G	10: 77,945,876	K303T	probably benign	Het
Tsta3	A	T	15: 75,925,649	D278E	possibly damaging	Het
Unc80	G	A	1: 66,510,625	V681M	probably damaging	Het
Usp40	A	G	1: 87,946,646	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,076,503	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,795,627	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,613,860	L234P	probably damaging	Het
Zfp109	A	G	7: 24,228,251	S578P	probably damaging	Het
Zfp704	T	C	3: 9,609,358	D121G	unknown	Het
Zgrf1	G	T	3: 127,563,137	V671L	probably benign	Het
Zkscan8	A	T	13: 21,520,757	C265*	probably null	Het
Zscan26	T	C	13: 21,445,140	I398V	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
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
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'- CTGGCTTTCAGCTACTCATGAG -3'
(R):5'- TGGATTTTGCTCCAAAACCTTG -3'

Sequencing Primer
(F):5'- GGCTTTCAGCTACTCATGAGTGAAC -3'
(R):5'- GAGTCTTTGGCCTAAAGTACCAGAC -3'

Posted On

2014-06-30