Mutagenetix > Incidental Mutation

Incidental Mutation 'R7547:Dchs2'

584244

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

045618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R7547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83263434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 3234 (K3234R)

Ref Sequence

ENSEMBL: ENSMUSP00000141425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000191829]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000191829
AA Change: K3234R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: K3234R

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
CA	70	149	1.6e-8	SMART
CA	173	278	1.9e-9	SMART
CA	302	395	2e-33	SMART
CA	423	522	3.2e-7	SMART
CA	546	642	1.1e-29	SMART
CA	666	750	5.6e-22	SMART
CA	774	855	1.5e-8	SMART
CA	876	958	4.2e-19	SMART
CA	982	1060	3e-8	SMART
CA	1067	1168	9.3e-7	SMART
CA	1192	1271	1.1e-28	SMART
CA	1299	1379	4e-16	SMART
CA	1403	1486	6.1e-16	SMART
CA	1510	1596	3.5e-18	SMART
CA	1619	1700	4.4e-27	SMART
CA	1724	1805	6.4e-27	SMART
CA	1828	1909	4.3e-29	SMART
CA	1933	2014	3.4e-27	SMART
CA	2038	2116	4.2e-7	SMART
CA	2139	2218	2.5e-15	SMART
CA	2242	2323	2.1e-34	SMART
CA	2346	2423	3e-24	SMART
CA	2447	2525	2e-17	SMART
CA	2549	2641	9.8e-16	SMART
CA	2665	2745	2.3e-24	SMART
CA	2769	2856	5.9e-19	SMART
CA	2880	2959	1e-3	SMART
transmembrane domain	2973	2995	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,109,269 (GRCm39)	D146E	probably benign	Het
Adgrl1	C	T	8: 84,665,513 (GRCm39)	A1400V	probably benign	Het
Ank2	A	G	3: 126,738,852 (GRCm39)	V2344A	unknown	Het
Anxa2r2	A	T	13: 120,488,457 (GRCm39)	F31I	probably damaging	Het
Aplnr	A	T	2: 84,967,521 (GRCm39)	D182V	probably damaging	Het
Asb4	C	T	6: 5,398,350 (GRCm39)	P105L	probably damaging	Het
Ate1	C	A	7: 130,106,539 (GRCm39)	R274I	probably benign	Het
Ccdc43	A	G	11: 102,582,948 (GRCm39)	V92A	probably benign	Het
Cfap69	T	A	5: 5,654,290 (GRCm39)	N548I	possibly damaging	Het
Clpb	A	G	7: 101,313,503 (GRCm39)		probably null	Het
Ctnnal1	G	A	4: 56,817,032 (GRCm39)	R597C	probably damaging	Het
Dnah7a	T	A	1: 53,702,996 (GRCm39)	K151N	probably benign	Het
Dnah7b	T	A	1: 46,253,573 (GRCm39)	I1826K	possibly damaging	Het
Dnttip1	A	G	2: 164,609,799 (GRCm39)	K289E	probably benign	Het
Eppk1	G	T	15: 75,991,740 (GRCm39)	Q1714K	probably benign	Het
Exoc4	A	G	6: 33,816,056 (GRCm39)	D674G	possibly damaging	Het
Galnt7	A	T	8: 58,036,996 (GRCm39)	V131D	possibly damaging	Het
Glg1	C	T	8: 111,914,393 (GRCm39)	V464M	possibly damaging	Het
Hlcs	G	T	16: 94,032,031 (GRCm39)	S444*	probably null	Het
Larp1	G	T	11: 57,943,405 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,335,410 (GRCm39)	Y4386C	probably damaging	Het
Mapt	A	G	11: 104,213,138 (GRCm39)		probably null	Het
Neb	C	T	2: 52,172,637 (GRCm39)	V1557I	probably benign	Het
Nid2	A	G	14: 19,847,345 (GRCm39)	T953A	probably benign	Het
Or5b105	T	C	19: 13,080,407 (GRCm39)	D87G	not run	Het
Pax3	G	A	1: 78,099,231 (GRCm39)	Q319*	probably null	Het
Ppp2r1b	T	A	9: 50,773,762 (GRCm39)	S212R	probably benign	Het
Prss29	T	C	17: 25,539,896 (GRCm39)	L98P	probably damaging	Het
Ptch2	T	G	4: 116,967,161 (GRCm39)	L646R	probably damaging	Het
Rasa2	T	A	9: 96,493,474 (GRCm39)	E70V	probably damaging	Het
Serf2	A	G	2: 121,281,256 (GRCm39)	N65S	possibly damaging	Het
Serpinb6b	G	A	13: 33,158,907 (GRCm39)	G155D	probably benign	Het
Serpinb6c	A	G	13: 34,077,875 (GRCm39)	I165T	possibly damaging	Het
Skint5	A	T	4: 113,483,785 (GRCm39)	V949E	unknown	Het
Slc11a2	A	G	15: 100,295,651 (GRCm39)	I490T	possibly damaging	Het
Slx4	T	C	16: 3,803,436 (GRCm39)	D1126G	probably benign	Het
Tent4a	G	T	13: 69,681,823 (GRCm39)	P160Q	probably benign	Het
Tln1	G	T	4: 43,545,206 (GRCm39)	A1003E	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,072 (GRCm39)	V64A	probably damaging	Het
U2surp	T	C	9: 95,361,402 (GRCm39)	E620G	possibly damaging	Het
Usp3	T	C	9: 66,449,906 (GRCm39)	N179S	possibly damaging	Het
Vps13d	T	C	4: 144,784,108 (GRCm39)	T3889A		Het
Vps35	C	T	8: 85,989,999 (GRCm39)	V670M	probably damaging	Het
Zfp626	T	C	7: 27,517,828 (GRCm39)	S270P	possibly damaging	Het
Zfp955a	C	T	17: 33,461,797 (GRCm39)	V112M	probably benign	Het
Zranb2	T	C	3: 157,246,806 (GRCm39)	S165P	possibly damaging	Het

Other mutations in Dchs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1707:Dchs2	UTSW	3	83,034,912 (GRCm39)	unclassified	probably benign
R5857:Dchs2	UTSW	3	83,177,620 (GRCm39)	missense	possibly damaging	0.79
R5897:Dchs2	UTSW	3	83,192,717 (GRCm39)	missense	possibly damaging	0.95
R5959:Dchs2	UTSW	3	83,232,725 (GRCm39)	missense	probably benign	0.01
R6007:Dchs2	UTSW	3	83,253,534 (GRCm39)	missense	probably damaging	0.99
R6054:Dchs2	UTSW	3	83,253,543 (GRCm39)	missense	probably benign	0.00
R6059:Dchs2	UTSW	3	83,263,043 (GRCm39)	missense	probably benign	0.06
R6075:Dchs2	UTSW	3	83,262,368 (GRCm39)	missense	possibly damaging	0.68
R6379:Dchs2	UTSW	3	83,262,453 (GRCm39)	missense	probably damaging	1.00
R6393:Dchs2	UTSW	3	83,037,218 (GRCm39)	missense	probably damaging	1.00
R6405:Dchs2	UTSW	3	83,261,570 (GRCm39)	missense	probably benign	0.01
R6432:Dchs2	UTSW	3	83,178,425 (GRCm39)	missense	possibly damaging	0.96
R6434:Dchs2	UTSW	3	83,176,577 (GRCm39)	missense	probably damaging	1.00
R6561:Dchs2	UTSW	3	83,036,476 (GRCm39)	missense	probably benign	0.04
R6798:Dchs2	UTSW	3	83,255,593 (GRCm39)	missense	probably damaging	1.00
R6801:Dchs2	UTSW	3	83,035,841 (GRCm39)	missense	probably benign	0.00
R6855:Dchs2	UTSW	3	83,255,501 (GRCm39)	missense	probably benign	0.08
R6956:Dchs2	UTSW	3	83,261,233 (GRCm39)	missense	probably benign	0.00
R7090:Dchs2	UTSW	3	83,255,581 (GRCm39)	missense	probably benign	0.03
R7249:Dchs2	UTSW	3	83,035,336 (GRCm39)	nonsense	probably null
R7252:Dchs2	UTSW	3	83,232,610 (GRCm39)	missense	probably benign	0.04
R7462:Dchs2	UTSW	3	83,253,462 (GRCm39)	splice site	probably null
R7482:Dchs2	UTSW	3	83,156,032 (GRCm39)	missense	possibly damaging	0.68
R7487:Dchs2	UTSW	3	83,263,613 (GRCm39)	missense	probably damaging	0.99
R7529:Dchs2	UTSW	3	83,261,705 (GRCm39)	missense	possibly damaging	0.89
R7542:Dchs2	UTSW	3	83,176,591 (GRCm39)	missense	probably benign	0.16
R7544:Dchs2	UTSW	3	83,262,434 (GRCm39)	missense	probably damaging	1.00
R7587:Dchs2	UTSW	3	83,211,822 (GRCm39)	missense	probably benign
R7632:Dchs2	UTSW	3	83,255,357 (GRCm39)	missense	probably benign	0.00
R7694:Dchs2	UTSW	3	83,036,789 (GRCm39)	missense	probably damaging	1.00
R7701:Dchs2	UTSW	3	83,253,513 (GRCm39)	missense	possibly damaging	0.83
R7746:Dchs2	UTSW	3	83,035,364 (GRCm39)	missense	possibly damaging	0.94
R7838:Dchs2	UTSW	3	83,211,834 (GRCm39)	missense	probably benign	0.01
R7886:Dchs2	UTSW	3	83,212,392 (GRCm39)	missense	probably damaging	1.00
R8055:Dchs2	UTSW	3	83,037,032 (GRCm39)	missense	probably benign	0.00
R8068:Dchs2	UTSW	3	83,207,745 (GRCm39)	missense	probably benign	0.12
R8094:Dchs2	UTSW	3	83,262,929 (GRCm39)	missense	probably benign	0.02
R8160:Dchs2	UTSW	3	83,178,112 (GRCm39)	missense	probably benign	0.19
R8166:Dchs2	UTSW	3	83,261,640 (GRCm39)	missense	probably benign	0.28
R8278:Dchs2	UTSW	3	83,178,310 (GRCm39)	missense	probably damaging	1.00
R8422:Dchs2	UTSW	3	83,232,570 (GRCm39)	missense	probably benign	0.30
R8506:Dchs2	UTSW	3	83,208,481 (GRCm39)	missense	probably benign	0.17
R8517:Dchs2	UTSW	3	83,178,419 (GRCm39)	missense	probably damaging	0.96
R8528:Dchs2	UTSW	3	83,261,918 (GRCm39)	missense	probably damaging	0.96
R8693:Dchs2	UTSW	3	83,192,631 (GRCm39)	missense	probably damaging	1.00
R8708:Dchs2	UTSW	3	83,036,049 (GRCm39)	missense	probably benign	0.00
R8757:Dchs2	UTSW	3	83,261,567 (GRCm39)	missense	possibly damaging	0.96
R8768:Dchs2	UTSW	3	83,253,592 (GRCm39)	missense	probably benign	0.12
R8776:Dchs2	UTSW	3	83,263,701 (GRCm39)	missense	possibly damaging	0.46
R8776-TAIL:Dchs2	UTSW	3	83,263,701 (GRCm39)	missense	possibly damaging	0.46
R8802:Dchs2	UTSW	3	83,253,544 (GRCm39)	missense	probably benign	0.01
R8821:Dchs2	UTSW	3	83,192,670 (GRCm39)	missense	probably benign	0.00
R8831:Dchs2	UTSW	3	83,192,670 (GRCm39)	missense	probably benign	0.00
R8897:Dchs2	UTSW	3	83,036,720 (GRCm39)	missense	probably damaging	1.00
R8957:Dchs2	UTSW	3	83,189,573 (GRCm39)	missense
R8973:Dchs2	UTSW	3	83,261,763 (GRCm39)	missense	possibly damaging	0.86
R8991:Dchs2	UTSW	3	83,036,143 (GRCm39)	missense	probably benign	0.00
R9015:Dchs2	UTSW	3	83,188,751 (GRCm39)	missense	possibly damaging	0.86
R9051:Dchs2	UTSW	3	83,261,493 (GRCm39)	missense	probably benign	0.02
R9117:Dchs2	UTSW	3	83,176,662 (GRCm39)	missense	probably benign	0.31
R9120:Dchs2	UTSW	3	83,187,535 (GRCm39)	missense	probably damaging	0.99
R9189:Dchs2	UTSW	3	83,255,561 (GRCm39)	missense	probably damaging	1.00
R9264:Dchs2	UTSW	3	83,177,784 (GRCm39)	missense	probably damaging	1.00
R9280:Dchs2	UTSW	3	83,189,255 (GRCm39)	missense	possibly damaging	0.88
R9293:Dchs2	UTSW	3	83,189,361 (GRCm39)	missense	possibly damaging	0.90
R9322:Dchs2	UTSW	3	83,189,001 (GRCm39)	missense	possibly damaging	0.73
R9345:Dchs2	UTSW	3	83,036,101 (GRCm39)	missense	probably benign	0.00
R9408:Dchs2	UTSW	3	83,192,573 (GRCm39)	missense	probably benign	0.02
R9432:Dchs2	UTSW	3	83,036,032 (GRCm39)	missense	possibly damaging	0.65
R9445:Dchs2	UTSW	3	83,146,284 (GRCm39)	missense	probably damaging	0.99
R9466:Dchs2	UTSW	3	83,176,564 (GRCm39)	missense	probably damaging	1.00
R9612:Dchs2	UTSW	3	83,178,193 (GRCm39)	missense	probably damaging	0.97
R9622:Dchs2	UTSW	3	83,263,766 (GRCm39)	nonsense	probably null
R9679:Dchs2	UTSW	3	83,261,697 (GRCm39)	missense	probably damaging	0.99
R9722:Dchs2	UTSW	3	83,261,301 (GRCm39)	missense	probably benign	0.01
R9767:Dchs2	UTSW	3	83,212,206 (GRCm39)	missense	probably benign	0.01
RF012:Dchs2	UTSW	3	83,262,375 (GRCm39)	missense	probably benign	0.03
Z1177:Dchs2	UTSW	3	83,178,447 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGGCAACAGCAGGTGTCTTG -3'
(R):5'- GGAGTCATGACTTCTGGTAGAGAC -3'

Sequencing Primer
(F):5'- ACAGCAGGTGTCTTGGCTGAG -3'
(R):5'- TTCTGGTAGAGACCCGCCATG -3'

Posted On

2019-10-17