Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Dsc2'

716713

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

Accession Numbers

Genbank: NM_013505; MGI: 103221

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20047219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 159 (I159N)

Ref Sequence

ENSEMBL: ENSMUSP00000042905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]

AlphaFold

P55292

Predicted Effect

probably damaging
Transcript: ENSMUST00000039247
AA Change: I159N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: I159N

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	2.82e-37	SMART
CA	156	241	4.66e-11	SMART
CA	265	353	1.87e-24	SMART
low complexity region	358	372	N/A	INTRINSIC
CA	376	470	1.27e-12	SMART
CA	493	575	4.14e-17	SMART
CA	594	676	1.49e-1	SMART
transmembrane domain	696	718	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075214
AA Change: I159N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: I159N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Cadherin_pro	31	113	2.82e-37	SMART
CA	156	241	4.66e-11	SMART
CA	265	353	1.87e-24	SMART
low complexity region	358	372	N/A	INTRINSIC
CA	376	470	1.27e-12	SMART
CA	493	575	4.14e-17	SMART
CA	594	676	1.49e-1	SMART
transmembrane domain	696	718	N/A	INTRINSIC
Pfam:Cadherin_C	730	901	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128464

SMART Domains

Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	2.82e-37	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,182,506	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,818,032	G762S	probably damaging	Het
Acta2	C	A	19: 34,248,465	A110S	probably damaging	Het
Adam26a	T	C	8: 43,569,419	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,605,424	*85R	probably null	Het
Ang2	A	C	14: 51,195,614	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,197,952	V529I	probably benign	Het
Aox4	G	T	1: 58,248,938	V737F	probably benign	Het
Aqr	T	C	2: 114,104,047	N1371S	probably benign	Het
Bach1	T	A	16: 87,729,845	S732T	probably benign	Het
Bcr	T	A	10: 75,131,599	I555N	probably damaging	Het
Bicra	T	C	7: 15,971,792	T1575A	probably damaging	Het
Bop1	A	G	15: 76,453,876	L598P	probably damaging	Het
Cacna1d	A	T	14: 30,123,462	F605L	possibly damaging	Het
Capn15	C	T	17: 25,965,379	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,920,852		probably benign	Het
Dnah2	T	C	11: 69,515,791	T542A	possibly damaging	Het
Ecel1	A	T	1: 87,147,994	V774E	probably damaging	Het
Eif5b	T	A	1: 38,019,370	L251*	probably null	Het
Eif5b	T	G	1: 38,045,479	C849W	probably damaging	Het
Ext2	T	C	2: 93,762,611	D416G	probably damaging	Het
Fancm	G	A	12: 65,106,614	W1281*	probably null	Het
Flvcr1	A	T	1: 191,011,632	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,451,634		probably null	Het
Frem2	T	A	3: 53,653,484	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,508,125		probably benign	Het
Gm340	C	A	19: 41,585,246	N813K	probably damaging	Het
Gmpr2	G	A	14: 55,678,321	V319I	probably damaging	Het
Gna12	A	T	5: 140,760,583	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,896,765	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,366,531	H285R	probably benign	Het
H2-M2	A	T	17: 37,482,533	V194E	probably benign	Het
Hephl1	G	A	9: 15,084,534	R431W	possibly damaging	Het
Hr	A	G	14: 70,556,437	T46A	probably benign	Het
Hr	A	G	14: 70,556,765	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,498,198	D256E	probably benign	Het
Ifi208	C	T	1: 173,683,395	T372I	probably damaging	Het
Ifi47	T	G	11: 49,095,793	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itga11	A	T	9: 62,762,889	N765I	probably benign	Het
Klhl22	T	A	16: 17,771,799	I108K	probably benign	Het
Lancl1	T	G	1: 67,034,222	H34P	probably benign	Het
Lrmp	A	G	6: 145,174,531	I491V	probably benign	Het
Mbd3l1	G	A	9: 18,484,978	G133D	probably benign	Het
Med12l	T	C	3: 59,247,932	F1178L	probably benign	Het
Mrm1	A	T	11: 84,814,705	N289K	probably damaging	Het
Myf6	A	G	10: 107,494,212	Y165H	probably benign	Het
Myo1g	C	A	11: 6,506,913	C971F	probably benign	Het
Myo3a	T	C	2: 22,241,051	M3T	probably benign	Het
Nsrp1	G	A	11: 77,046,288	R361*	probably null	Het
Olfr1055	T	A	2: 86,347,502	D88V	probably benign	Het
Olfr1241	T	C	2: 89,482,412	H241R	probably damaging	Het
Olfr1250	T	C	2: 89,657,387	D18G	probably damaging	Het
Olfr478	A	T	7: 108,031,956	I129N	possibly damaging	Het
Olfr55	C	A	17: 33,176,574	H57Q	possibly damaging	Het
Olfr890	G	A	9: 38,143,570	C140Y	probably benign	Het
Olfr963	A	C	9: 39,669,315	Q86P	possibly damaging	Het
Oscar	T	G	7: 3,611,664	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,126,293	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,174,697	I56T	probably damaging	Het
Pxdn	T	A	12: 29,994,553	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,347,931	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,251	T82A	probably benign	Het
Scmh1	G	A	4: 120,463,087	W30*	probably null	Het
Sema4g	T	C	19: 44,992,632	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,432,668	M404K	probably damaging	Het
Sgk3	T	C	1: 9,880,391		probably null	Het
Slc16a5	A	T	11: 115,469,912	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,397,759	L290F	probably damaging	Het
Snx32	A	C	19: 5,497,708	D191E	probably damaging	Het
Sp4	T	C	12: 118,299,124	I396V	probably benign	Het
Srrd	A	G	5: 112,342,899	V42A	unknown	Het
Stim1	A	G	7: 102,431,050	H547R	unknown	Het
Svep1	G	A	4: 58,070,517	A2423V	probably benign	Het
Tep1	A	G	14: 50,829,230	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,559,838	S104R	probably benign	Het
Tkt	T	C	14: 30,559,839	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,775,642	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttll10	G	T	4: 156,043,159	T389K	probably benign	Het
Tubal3	A	G	13: 3,930,674	I129V	probably benign	Het
Ucp3	A	G	7: 100,481,916	E192G	probably damaging	Het
Usp47	A	G	7: 112,077,856	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,081,234	L833M	possibly damaging	Het
Vps13d	A	G	4: 145,081,299		probably null	Het
Wdr7	A	G	18: 63,777,868	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,709,237	I213T	probably damaging	Het
Zfp281	T	C	1: 136,627,405	I707T	probably damaging	Het
Zfp335	T	C	2: 164,893,475	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	Het
Zfr2	T	A	10: 81,240,135	L192Q	probably benign	Het

Other mutations in Dsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Dsc2	APN	18	20041797	missense	probably benign	0.01
IGL00826:Dsc2	APN	18	20035315	missense	probably damaging	1.00
IGL00852:Dsc2	APN	18	20034683	missense	probably benign	0.01
IGL01082:Dsc2	APN	18	20043792	missense	probably damaging	1.00
IGL01328:Dsc2	APN	18	20048286	missense	probably damaging	0.98
IGL01338:Dsc2	APN	18	20047157	missense	probably benign	0.19
IGL01727:Dsc2	APN	18	20038200	missense	probably benign	0.01
IGL01766:Dsc2	APN	18	20046342	missense	possibly damaging	0.56
IGL02228:Dsc2	APN	18	20043733	missense	probably damaging	0.99
IGL02560:Dsc2	APN	18	20045539	missense	probably damaging	1.00
IGL02794:Dsc2	APN	18	20041731	missense	probably damaging	1.00
3-1:Dsc2	UTSW	18	20047079	missense	possibly damaging	0.60
PIT4305001:Dsc2	UTSW	18	20046243	missense	probably damaging	0.96
PIT4431001:Dsc2	UTSW	18	20046277	nonsense	probably null
R0288:Dsc2	UTSW	18	20033120	missense	probably damaging	1.00
R0542:Dsc2	UTSW	18	20051226	missense	probably damaging	0.99
R0562:Dsc2	UTSW	18	20041537	missense	probably damaging	0.99
R0697:Dsc2	UTSW	18	20041452	missense	probably damaging	0.99
R0940:Dsc2	UTSW	18	20050059	missense	probably damaging	0.97
R1081:Dsc2	UTSW	18	20033295	missense	probably damaging	0.96
R1140:Dsc2	UTSW	18	20032212	missense	probably damaging	1.00
R1515:Dsc2	UTSW	18	20034701	missense	probably damaging	0.99
R1515:Dsc2	UTSW	18	20045565	missense	probably benign	0.40
R1558:Dsc2	UTSW	18	20050151	missense	probably damaging	0.99
R1654:Dsc2	UTSW	18	20046246	missense	probably benign	0.01
R2061:Dsc2	UTSW	18	20032399	missense	possibly damaging	0.79
R2089:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20033294	missense	possibly damaging	0.65
R2172:Dsc2	UTSW	18	20045502	missense	probably damaging	1.00
R2247:Dsc2	UTSW	18	20035312	missense	probably damaging	1.00
R2472:Dsc2	UTSW	18	20045469	missense	probably benign	0.00
R2927:Dsc2	UTSW	18	20045501	missense	probably damaging	1.00
R3611:Dsc2	UTSW	18	20032351	missense	probably damaging	0.99
R3961:Dsc2	UTSW	18	20051227	missense	probably damaging	0.98
R3963:Dsc2	UTSW	18	20051227	missense	probably damaging	0.98
R4353:Dsc2	UTSW	18	20050068	missense	probably damaging	1.00
R4362:Dsc2	UTSW	18	20050157	missense	probably damaging	1.00
R4612:Dsc2	UTSW	18	20041819	missense	probably damaging	1.00
R4613:Dsc2	UTSW	18	20041819	missense	probably damaging	1.00
R4752:Dsc2	UTSW	18	20038222	missense	probably damaging	1.00
R4946:Dsc2	UTSW	18	20050157	missense	probably damaging	1.00
R5056:Dsc2	UTSW	18	20050142	missense	probably damaging	1.00
R5267:Dsc2	UTSW	18	20034583	critical splice donor site	probably null
R5445:Dsc2	UTSW	18	20035303	missense	possibly damaging	0.76
R5507:Dsc2	UTSW	18	20046279	missense	probably damaging	0.96
R5575:Dsc2	UTSW	18	20035390	missense	probably damaging	1.00
R5781:Dsc2	UTSW	18	20032510	missense	probably benign	0.00
R6102:Dsc2	UTSW	18	20047108	missense	probably benign	0.01
R6129:Dsc2	UTSW	18	20045430	missense	possibly damaging	0.95
R6362:Dsc2	UTSW	18	20035463	nonsense	probably null
R6433:Dsc2	UTSW	18	20051175	critical splice donor site	probably null
R6513:Dsc2	UTSW	18	20046238	missense	probably benign
R6615:Dsc2	UTSW	18	20032519	missense	possibly damaging	0.88
R6619:Dsc2	UTSW	18	20032278	missense	probably benign	0.22
R6665:Dsc2	UTSW	18	20050148	missense	probably damaging	1.00
R6961:Dsc2	UTSW	18	20038222	missense	probably damaging	1.00
R7179:Dsc2	UTSW	18	20035275	critical splice donor site	probably null
R7275:Dsc2	UTSW	18	20051179	nonsense	probably null
R7352:Dsc2	UTSW	18	20035335	missense	probably benign	0.39
R7386:Dsc2	UTSW	18	20041926	missense	possibly damaging	0.84
R7496:Dsc2	UTSW	18	20035394	nonsense	probably null
R7510:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R7580:Dsc2	UTSW	18	20050073	missense	probably damaging	1.00
R7718:Dsc2	UTSW	18	20041778	missense	probably damaging	0.98
R7733:Dsc2	UTSW	18	20048315	missense	probably benign	0.00
R7733:Dsc2	UTSW	18	20048316	missense	probably benign	0.16
R7818:Dsc2	UTSW	18	20050132	missense	probably damaging	1.00
R7852:Dsc2	UTSW	18	20046285	missense	possibly damaging	0.67
R7998:Dsc2	UTSW	18	20034663	missense	possibly damaging	0.87
R8029:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8030:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8031:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8032:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8059:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8060:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8061:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8062:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8063:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8082:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8090:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8114:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8115:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8116:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8117:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8118:Dsc2	UTSW	18	20032274	missense	possibly damaging	0.78
R8328:Dsc2	UTSW	18	20032519	missense	possibly damaging	0.68
R8545:Dsc2	UTSW	18	20034665	nonsense	probably null
R9005:Dsc2	UTSW	18	20038094	missense	probably benign	0.00
R9017:Dsc2	UTSW	18	20043911	missense	probably damaging	1.00
R9111:Dsc2	UTSW	18	20034707	missense	probably benign	0.00
R9396:Dsc2	UTSW	18	20041716	nonsense	probably null
R9663:Dsc2	UTSW	18	20038148	missense	probably damaging	1.00
Z1088:Dsc2	UTSW	18	20046304	missense	probably damaging	0.98
Z1176:Dsc2	UTSW	18	20035299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATCTTCAGACGTTACCTCAAAG -3'
(R):5'- TACAGAGAAGTCCCAAGTGTTTG -3'

Sequencing Primer
(F):5'- GGACTCATACTGCTCACGATC -3'
(R):5'- GCTTCTATGGGATTTTGCAAGTATC -3'

Posted On

2022-07-18