Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Dsc2'

710862

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 20041716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 501 (R501*)

Ref Sequence

ENSEMBL: ENSMUSP00000042905 (fasta)

Gene Model

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

AlphaFold

P55292

Predicted Effect

probably null
Transcript: ENSMUST00000039247
AA Change: R501*

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: R501*

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 null
Transcript: ENSMUST00000075214
AA Change: R501*

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: R501*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155407

SMART Domains

Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331

Domain	Start	End	E-Value	Type
SCOP:d1l3wa5	2	71	2e-3	SMART
Blast:CA	2	76	2e-47	BLAST
transmembrane domain	96	118	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 84,692,854 (GRCm38)	F281I	probably damaging	Het
Acad8	A	G	9: 26,975,745 (GRCm38)	M402T	probably damaging	Het
Apcdd1	C	T	18: 62,922,660 (GRCm38)		probably benign	Het
Apol7a	T	C	15: 77,389,725 (GRCm38)	E179G	possibly damaging	Het
Asmt	A	G	X: 170,676,406 (GRCm38)	T217A	probably benign	Het
Cadm2	T	C	16: 66,747,216 (GRCm38)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,707,281 (GRCm38)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,987,404 (GRCm38)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,254,666 (GRCm38)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,264,658 (GRCm38)	S1268N	probably damaging	Het
Csrnp3	C	T	2: 66,002,497 (GRCm38)	R127C	probably damaging	Het
Dusp2	C	T	2: 127,337,718 (GRCm38)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,660,109 (GRCm38)	K878E	possibly damaging	Het
Evc	T	C	5: 37,319,090 (GRCm38)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,287,074 (GRCm38)	K166*	probably null	Het
Fstl4	C	A	11: 52,773,951 (GRCm38)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,422,833 (GRCm38)	I551N	probably benign	Het
Hc	G	T	2: 35,037,603 (GRCm38)	S333*	probably null	Het
Ibsp	A	G	5: 104,310,431 (GRCm38)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 142,370,967 (GRCm38)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,591,513 (GRCm38)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,013,848 (GRCm38)	T531P	probably damaging	Het
Mapt	C	A	11: 104,298,729 (GRCm38)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,763,296 (GRCm38)	T1840A	probably benign	Het
Myof	A	T	19: 37,934,846 (GRCm38)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,785,888 (GRCm38)	V626L	probably benign	Het
Nalf2	C	T	X: 99,845,491 (GRCm38)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,248,909 (GRCm38)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,524,001 (GRCm38)	M291K	probably damaging	Het
Nubp2	C	T	17: 24,884,502 (GRCm38)	V134I	probably benign	Het
Nuf2	T	C	1: 169,510,348 (GRCm38)	I287V	probably benign	Het
Or1d2	T	A	11: 74,365,263 (GRCm38)	M198K	probably benign	Het
Or2n1	T	A	17: 38,175,530 (GRCm38)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,489,519 (GRCm38)	L213P	probably benign	Het
Or51i2	A	G	7: 104,040,513 (GRCm38)	N239S	probably benign	Het
Or55b4	A	C	7: 102,484,973 (GRCm38)	V49G	possibly damaging	Het
Or5k3	G	A	16: 59,148,939 (GRCm38)	V30M	probably damaging	Het
Or8k28	A	T	2: 86,455,501 (GRCm38)	C257S	probably benign	Het
Pals1	G	T	12: 78,824,747 (GRCm38)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Ppp1r12a	A	G	10: 108,264,710 (GRCm38)	E863G	probably damaging	Het
Pskh1	C	T	8: 105,913,459 (GRCm38)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,229,329 (GRCm38)	I334V	probably benign	Het
Rnf180	T	A	13: 105,181,519 (GRCm38)	K462*	probably null	Het
Sin3a	A	G	9: 57,101,161 (GRCm38)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,617,399 (GRCm38)		probably benign	Het
Slc2a13	T	C	15: 91,343,712 (GRCm38)	T426A	probably benign	Het
Smarca5	T	C	8: 80,736,729 (GRCm38)	K70R	probably benign	Het
Smg1	A	G	7: 118,208,080 (GRCm38)	V182A	unknown	Het
Stim1	G	A	7: 102,415,385 (GRCm38)	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,727,379 (GRCm38)	D201G	probably damaging	Het
Tcf25	A	G	8: 123,401,092 (GRCm38)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,621,974 (GRCm38)	N135S	possibly damaging	Het
Togaram1	A	G	12: 64,967,655 (GRCm38)	N560S	probably damaging	Het
Unc13d	A	G	11: 116,075,703 (GRCm38)		probably null	Het
Zfp445	A	C	9: 122,852,516 (GRCm38)	S787A	probably benign	Het
Zfp949	T	C	9: 88,567,207 (GRCm38)	W22R	probably damaging	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
R6513:Dsc2	UTSW	18	20,046,238 (GRCm38)	missense	probably benign
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
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'- CCAACGCTCGGAAAATAGTGATC -3'
(R):5'- AGCTCCATACACTAGAGAGGC -3'

Sequencing Primer
(F):5'- CTCGGAAAATAGTGATCGATCCTG -3'
(R):5'- CTAGAGAGGCTAGCTCAAAGTCAC -3'

Posted On

2022-04-18