Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Dsc2'

520037

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20046238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 258 (I258V)

Ref Sequence

ENSEMBL: ENSMUSP00000074702 (fasta)

Gene Model

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

AlphaFold

P55292

Predicted Effect

probably benign
Transcript: ENSMUST00000039247
AA Change: I258V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: I258V

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 benign
Transcript: ENSMUST00000075214
AA Change: I258V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: I258V

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 91,055,766 (GRCm38)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,730,482 (GRCm38)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 122,890,180 (GRCm38)	V2290A	probably benign	Het
Aox4	A	G	1: 58,213,053 (GRCm38)	N29S	probably benign	Het
Arhgap17	T	C	7: 123,292,156 (GRCm38)	R592G	possibly damaging	Het
BC027072	T	A	17: 71,744,706 (GRCm38)	E1217V	probably damaging	Het
C87414	C	A	5: 93,637,532 (GRCm38)		probably null	Het
Caap1	A	T	4: 94,501,403 (GRCm38)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,169,134 (GRCm38)	M165L	possibly damaging	Het
Cep72	A	T	13: 74,058,463 (GRCm38)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,441,286 (GRCm38)	S731G	probably null	Het
Dsg1c	T	G	18: 20,274,630 (GRCm38)	N344K	probably benign	Het
Enah	A	G	1: 182,014,355 (GRCm38)		probably benign	Het
Fam26d	T	A	10: 34,041,634 (GRCm38)	R274*	probably null	Het
Fbn1	T	A	2: 125,383,671 (GRCm38)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,811,112 (GRCm38)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,123,120 (GRCm38)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,855,554 (GRCm38)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,392,818 (GRCm38)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,356,196 (GRCm38)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm38)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 122,880,239 (GRCm38)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,038,435 (GRCm38)	V1059D	possibly damaging	Het
Kif1bp	T	C	10: 62,575,034 (GRCm38)		probably null	Het
Kif26a	T	A	12: 112,175,492 (GRCm38)	S727T	probably damaging	Het
Klk1b27	A	G	7: 44,055,745 (GRCm38)	H112R	probably benign	Het
Krt72	T	G	15: 101,776,752 (GRCm38)		probably null	Het
Lactb	C	T	9: 66,970,890 (GRCm38)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,465,729 (GRCm38)	I612N	probably damaging	Het
Meaf6	A	C	4: 125,089,904 (GRCm38)	N51T	probably damaging	Het
Mtap	A	G	4: 89,148,261 (GRCm38)	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,407,332 (GRCm38)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm38)	T596I	probably damaging	Het
Olfr1306	C	G	2: 111,912,883 (GRCm38)	G16R	possibly damaging	Het
Olfr1338	A	T	4: 118,754,027 (GRCm38)	C172*	probably null	Het
Pam	A	G	1: 97,838,027 (GRCm38)	V759A	possibly damaging	Het
Pds5a	T	A	5: 65,615,601 (GRCm38)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,747,877 (GRCm38)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,830,687 (GRCm38)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 25,016,538 (GRCm38)	V638I	possibly damaging	Het
Ptf1a	T	A	2: 19,447,037 (GRCm38)	D282E	probably damaging	Het
Ptgs2	A	T	1: 150,100,128 (GRCm38)		probably benign	Het
Racgap1	T	C	15: 99,624,275 (GRCm38)	R471G	probably damaging	Het
Rptn	T	C	3: 93,396,112 (GRCm38)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,744,507 (GRCm38)	M429V	probably benign	Het
Shprh	T	C	10: 11,186,893 (GRCm38)	L1248P	probably damaging	Het
Son	T	C	16: 91,659,947 (GRCm38)		probably benign	Het
Sppl3	T	C	5: 115,095,936 (GRCm38)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,955,382 (GRCm38)	R794W	probably damaging	Het
Telo2	T	C	17: 25,101,412 (GRCm38)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,574,531 (GRCm38)		probably null	Het
Tle4	T	C	19: 14,451,692 (GRCm38)	D722G	probably damaging	Het
Tprgl	A	G	4: 154,159,405 (GRCm38)	V98A	probably benign	Het
Trak1	C	T	9: 121,443,756 (GRCm38)	R237C	probably benign	Het
Vmn2r113	T	C	17: 22,958,741 (GRCm38)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,608,093 (GRCm38)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,976,597 (GRCm38)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,999,958 (GRCm38)		probably null	Het
Wee2	A	G	6: 40,452,619 (GRCm38)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,385,830 (GRCm38)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 11,158,765 (GRCm38)		probably null	Het
Zfp516	T	A	18: 82,955,710 (GRCm38)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,947,468 (GRCm38)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,896,105 (GRCm38)	R713Q	probably benign	Het

Other mutations in Dsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Dsc2	APN	18	20,041,797 (GRCm38)	missense	probably benign	0.01
IGL00826:Dsc2	APN	18	20,035,315 (GRCm38)	missense	probably damaging	1.00
IGL00852:Dsc2	APN	18	20,034,683 (GRCm38)	missense	probably benign	0.01
IGL01082:Dsc2	APN	18	20,043,792 (GRCm38)	missense	probably damaging	1.00
IGL01328:Dsc2	APN	18	20,048,286 (GRCm38)	missense	probably damaging	0.98
IGL01338:Dsc2	APN	18	20,047,157 (GRCm38)	missense	probably benign	0.19
IGL01727:Dsc2	APN	18	20,038,200 (GRCm38)	missense	probably benign	0.01
IGL01766:Dsc2	APN	18	20,046,342 (GRCm38)	missense	possibly damaging	0.56
IGL02228:Dsc2	APN	18	20,043,733 (GRCm38)	missense	probably damaging	0.99
IGL02560:Dsc2	APN	18	20,045,539 (GRCm38)	missense	probably damaging	1.00
IGL02794:Dsc2	APN	18	20,041,731 (GRCm38)	missense	probably damaging	1.00
3-1:Dsc2	UTSW	18	20,047,079 (GRCm38)	missense	possibly damaging	0.60
PIT4305001:Dsc2	UTSW	18	20,046,243 (GRCm38)	missense	probably damaging	0.96
PIT4431001:Dsc2	UTSW	18	20,046,277 (GRCm38)	nonsense	probably null
R0288:Dsc2	UTSW	18	20,033,120 (GRCm38)	missense	probably damaging	1.00
R0542:Dsc2	UTSW	18	20,051,226 (GRCm38)	missense	probably damaging	0.99
R0562:Dsc2	UTSW	18	20,041,537 (GRCm38)	missense	probably damaging	0.99
R0697:Dsc2	UTSW	18	20,041,452 (GRCm38)	missense	probably damaging	0.99
R0940:Dsc2	UTSW	18	20,050,059 (GRCm38)	missense	probably damaging	0.97
R1081:Dsc2	UTSW	18	20,033,295 (GRCm38)	missense	probably damaging	0.96
R1140:Dsc2	UTSW	18	20,032,212 (GRCm38)	missense	probably damaging	1.00
R1515:Dsc2	UTSW	18	20,045,565 (GRCm38)	missense	probably benign	0.40
R1515:Dsc2	UTSW	18	20,034,701 (GRCm38)	missense	probably damaging	0.99
R1558:Dsc2	UTSW	18	20,050,151 (GRCm38)	missense	probably damaging	0.99
R1654:Dsc2	UTSW	18	20,046,246 (GRCm38)	missense	probably benign	0.01
R2061:Dsc2	UTSW	18	20,032,399 (GRCm38)	missense	possibly damaging	0.79
R2089:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2091:Dsc2	UTSW	18	20,033,294 (GRCm38)	missense	possibly damaging	0.65
R2172:Dsc2	UTSW	18	20,045,502 (GRCm38)	missense	probably damaging	1.00
R2247:Dsc2	UTSW	18	20,035,312 (GRCm38)	missense	probably damaging	1.00
R2472:Dsc2	UTSW	18	20,045,469 (GRCm38)	missense	probably benign	0.00
R2927:Dsc2	UTSW	18	20,045,501 (GRCm38)	missense	probably damaging	1.00
R3611:Dsc2	UTSW	18	20,032,351 (GRCm38)	missense	probably damaging	0.99
R3961:Dsc2	UTSW	18	20,051,227 (GRCm38)	missense	probably damaging	0.98
R3963:Dsc2	UTSW	18	20,051,227 (GRCm38)	missense	probably damaging	0.98
R4353:Dsc2	UTSW	18	20,050,068 (GRCm38)	missense	probably damaging	1.00
R4362:Dsc2	UTSW	18	20,050,157 (GRCm38)	missense	probably damaging	1.00
R4612:Dsc2	UTSW	18	20,041,819 (GRCm38)	missense	probably damaging	1.00
R4613:Dsc2	UTSW	18	20,041,819 (GRCm38)	missense	probably damaging	1.00
R4752:Dsc2	UTSW	18	20,038,222 (GRCm38)	missense	probably damaging	1.00
R4946:Dsc2	UTSW	18	20,050,157 (GRCm38)	missense	probably damaging	1.00
R5056:Dsc2	UTSW	18	20,050,142 (GRCm38)	missense	probably damaging	1.00
R5267:Dsc2	UTSW	18	20,034,583 (GRCm38)	critical splice donor site	probably null
R5445:Dsc2	UTSW	18	20,035,303 (GRCm38)	missense	possibly damaging	0.76
R5507:Dsc2	UTSW	18	20,046,279 (GRCm38)	missense	probably damaging	0.96
R5575:Dsc2	UTSW	18	20,035,390 (GRCm38)	missense	probably damaging	1.00
R5781:Dsc2	UTSW	18	20,032,510 (GRCm38)	missense	probably benign	0.00
R6102:Dsc2	UTSW	18	20,047,108 (GRCm38)	missense	probably benign	0.01
R6129:Dsc2	UTSW	18	20,045,430 (GRCm38)	missense	possibly damaging	0.95
R6362:Dsc2	UTSW	18	20,035,463 (GRCm38)	nonsense	probably null
R6433:Dsc2	UTSW	18	20,051,175 (GRCm38)	critical splice donor site	probably null
R6615:Dsc2	UTSW	18	20,032,519 (GRCm38)	missense	possibly damaging	0.88
R6619:Dsc2	UTSW	18	20,032,278 (GRCm38)	missense	probably benign	0.22
R6665:Dsc2	UTSW	18	20,050,148 (GRCm38)	missense	probably damaging	1.00
R6961:Dsc2	UTSW	18	20,038,222 (GRCm38)	missense	probably damaging	1.00
R7179:Dsc2	UTSW	18	20,035,275 (GRCm38)	critical splice donor site	probably null
R7275:Dsc2	UTSW	18	20,051,179 (GRCm38)	nonsense	probably null
R7352:Dsc2	UTSW	18	20,035,335 (GRCm38)	missense	probably benign	0.39
R7386:Dsc2	UTSW	18	20,041,926 (GRCm38)	missense	possibly damaging	0.84
R7496:Dsc2	UTSW	18	20,035,394 (GRCm38)	nonsense	probably null
R7510:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R7580:Dsc2	UTSW	18	20,050,073 (GRCm38)	missense	probably damaging	1.00
R7718:Dsc2	UTSW	18	20,041,778 (GRCm38)	missense	probably damaging	0.98
R7733:Dsc2	UTSW	18	20,048,316 (GRCm38)	missense	probably benign	0.16
R7733:Dsc2	UTSW	18	20,048,315 (GRCm38)	missense	probably benign	0.00
R7818:Dsc2	UTSW	18	20,050,132 (GRCm38)	missense	probably damaging	1.00
R7852:Dsc2	UTSW	18	20,046,285 (GRCm38)	missense	possibly damaging	0.67
R7998:Dsc2	UTSW	18	20,034,663 (GRCm38)	missense	possibly damaging	0.87
R8029:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8030:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8031:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8032:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8059:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8060:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8061:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8062:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8063:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8082:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8090:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8114:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8115:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8116:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8117:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8118:Dsc2	UTSW	18	20,032,274 (GRCm38)	missense	possibly damaging	0.78
R8328:Dsc2	UTSW	18	20,032,519 (GRCm38)	missense	possibly damaging	0.68
R8545:Dsc2	UTSW	18	20,034,665 (GRCm38)	nonsense	probably null
R9005:Dsc2	UTSW	18	20,038,094 (GRCm38)	missense	probably benign	0.00
R9017:Dsc2	UTSW	18	20,043,911 (GRCm38)	missense	probably damaging	1.00
R9111:Dsc2	UTSW	18	20,034,707 (GRCm38)	missense	probably benign	0.00
R9396:Dsc2	UTSW	18	20,041,716 (GRCm38)	nonsense	probably null
R9487:Dsc2	UTSW	18	20,047,219 (GRCm38)	missense	probably damaging	0.99
R9663:Dsc2	UTSW	18	20,038,148 (GRCm38)	missense	probably damaging	1.00
Z1088:Dsc2	UTSW	18	20,046,304 (GRCm38)	missense	probably damaging	0.98
Z1176:Dsc2	UTSW	18	20,035,299 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGATAACCCATTGGCTGG -3'
(R):5'- GAGAAACTGAATTCCATTCCCAGC -3'

Sequencing Primer
(F):5'- TTGGCTGGATAAGAAACTAAGAAACC -3'
(R):5'- TGAATTCCATTCCCAGCACCAC -3'

Posted On

2018-06-06