Mutagenetix > Incidental Mutation

Incidental Mutation 'R8545:Dsc2'

659606

Institutional Source

Beutler Lab

Gene Symbol

Dsc2

Ensembl Gene

ENSMUSG00000024331

Gene Name

desmocollin 2

Synonyms

Dsc2b, Dsc2a

MMRRC Submission

068510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20030633-20059554 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 20034665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 123 (Q123*)

Gene Model

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

AlphaFold

P55292

Predicted Effect

probably null
Transcript: ENSMUST00000039247
AA Change: Q724*

SMART Domains

Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: Q724*

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: Q724*

SMART Domains

Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: Q724*

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 null
Transcript: ENSMUST00000155407
AA Change: Q123*

SMART Domains

Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
AA Change: Q123*

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: 99.9%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,345,968 (GRCm38)	Y1779C	probably damaging	Het
Apc	A	G	18: 34,317,031 (GRCm38)	N2293D	possibly damaging	Het
Arhgap30	T	C	1: 171,407,430 (GRCm38)	L488P	probably damaging	Het
Arhgap31	T	A	16: 38,603,046 (GRCm38)	Q886L	probably damaging	Het
Arhgef10	T	G	8: 14,928,868 (GRCm38)	V45G	probably benign	Het
Arhgef10	A	G	8: 14,975,931 (GRCm38)	T812A	possibly damaging	Het
Bbs2	T	C	8: 94,086,724 (GRCm38)	S246G	probably benign	Het
Cby3	T	C	11: 50,359,416 (GRCm38)	S150P	probably benign	Het
Cdc40	A	G	10: 40,847,943 (GRCm38)	V283A	probably benign	Het
Cox15	A	T	19: 43,739,982 (GRCm38)	V284E	probably damaging	Het
Cyp4a12b	A	T	4: 115,433,030 (GRCm38)	H260L	probably benign	Het
Dph6	G	A	2: 114,647,767 (GRCm38)	A31V	probably damaging	Het
Eftud2	A	G	11: 102,840,271 (GRCm38)	F810S	probably damaging	Het
Erich3	A	T	3: 154,762,359 (GRCm38)		probably benign	Het
Gm49368	T	C	7: 128,080,261 (GRCm38)	Y192H	probably damaging	Het
Herc1	T	A	9: 66,371,975 (GRCm38)	L55*	probably null	Het
Hgsnat	T	C	8: 25,955,679 (GRCm38)	T396A	probably benign	Het
Il17rd	T	G	14: 27,091,929 (GRCm38)	F55C	probably damaging	Het
Mad1l1	A	C	5: 140,300,494 (GRCm38)	M250R	probably benign	Het
Muc15	A	T	2: 110,731,236 (GRCm38)	K6*	probably null	Het
Muc2	A	G	7: 141,752,393 (GRCm38)	N273S	unknown	Het
Myh1	T	A	11: 67,202,201 (GRCm38)	Y78N	probably benign	Het
Pcdh20	T	A	14: 88,469,165 (GRCm38)	H233L	probably damaging	Het
Pcnx4	G	A	12: 72,556,082 (GRCm38)	A373T	probably benign	Het
Phf3	A	T	1: 30,824,310 (GRCm38)	M778K	possibly damaging	Het
Pigg	A	T	5: 108,341,860 (GRCm38)	D644V	probably damaging	Het
Rnf148	A	T	6: 23,654,571 (GRCm38)	I142N	probably damaging	Het
Ryr1	T	C	7: 29,004,814 (GRCm38)		probably benign	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Tapbp	A	G	17: 33,920,317 (GRCm38)	M87V	possibly damaging	Het
Tbccd1	T	C	16: 22,834,029 (GRCm38)	Y114C	probably benign	Het
Tet1	A	T	10: 62,812,939 (GRCm38)	W1905R	probably damaging	Het
Tmem109	G	A	19: 10,874,370 (GRCm38)	R37*	probably null	Het
Wdfy4	T	C	14: 33,078,301 (GRCm38)	Y1802C	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,466,828 (GRCm38)		probably benign	Het
Zcchc4	G	A	5: 52,819,399 (GRCm38)		probably benign	Het
Zfp646	T	C	7: 127,885,490 (GRCm38)	S1772P	probably benign	Het
Zfp820	A	G	17: 21,819,457 (GRCm38)	C297R	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
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'- CATTTGCTGCTAAGTTATCAGACAC -3'
(R):5'- GGGCACACTCTTCTGCTTTG -3'

Sequencing Primer
(F):5'- GTTATCAGACACCAGAAGAAGTTTGC -3'
(R):5'- TCTGCTTTGACATTGGCAAAC -3'

Posted On

2021-01-18