Mutagenetix > Incidental Mutation

Incidental Mutation 'R6405:Dchs2'

516244

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

044550-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R6405 (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 83261570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2613 (I2613V)

Ref Sequence

ENSEMBL: ENSMUSP00000141425 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000191829
AA Change: I2613V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I2613V

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: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,742 (GRCm39)	V769A	probably damaging	Het
Abca4	A	G	3: 121,967,311 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,739,771 (GRCm39)	S628T	probably damaging	Het
Ano8	T	C	8: 71,935,674 (GRCm39)	T315A	probably damaging	Het
Arhgap32	T	A	9: 32,159,784 (GRCm39)	V267E	probably benign	Het
Asnsd1	A	T	1: 53,387,154 (GRCm39)	S158T	probably damaging	Het
Asxl2	T	A	12: 3,543,758 (GRCm39)	V309E	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc110	T	A	8: 46,394,734 (GRCm39)	Y208*	probably null	Het
Cfap157	G	T	2: 32,671,408 (GRCm39)	Q133K	probably damaging	Het
Cfap53	A	G	18: 74,492,677 (GRCm39)	E467G	probably damaging	Het
Csmd3	T	C	15: 47,683,767 (GRCm39)	I1688M	probably damaging	Het
Cyp3a11	A	T	5: 145,799,230 (GRCm39)	L319Q	probably damaging	Het
Dhx35	T	A	2: 158,636,839 (GRCm39)	W11R	probably damaging	Het
Dscam	C	T	16: 96,479,625 (GRCm39)	G1174D	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Greb1l	T	A	18: 10,501,076 (GRCm39)	I402K	probably benign	Het
Hectd3	A	T	4: 116,857,821 (GRCm39)	M585L	probably benign	Het
Inpp5k	T	C	11: 75,524,004 (GRCm39)		probably null	Het
Lalba	T	G	15: 98,378,632 (GRCm39)		probably null	Het
Lgals9	C	A	11: 78,862,211 (GRCm39)	V125L	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Or2g25	A	G	17: 37,971,014 (GRCm39)	I70T	possibly damaging	Het
Peg10	C	CTCG	6: 4,756,453 (GRCm39)		probably benign	Het
Rab4b	T	A	7: 26,872,379 (GRCm39)	D94V	probably damaging	Het
Rhpn2	A	G	7: 35,071,864 (GRCm39)	E243G	probably benign	Het
Rp1	T	C	1: 4,415,994 (GRCm39)	D1706G	probably damaging	Het
Slc29a3	A	T	10: 60,551,805 (GRCm39)	I413N	probably damaging	Het
Slc7a9	T	C	7: 35,154,064 (GRCm39)	L229P	probably damaging	Het
Tenm2	T	C	11: 36,755,686 (GRCm39)	H104R	probably benign	Het
Tmem87a	A	G	2: 120,210,231 (GRCm39)	Y241H	probably damaging	Het
Trpv5	G	T	6: 41,651,602 (GRCm39)	T192K	probably damaging	Het
Unc79	T	C	12: 103,134,595 (GRCm39)	V2189A	probably damaging	Het
Vmn2r106	A	C	17: 20,499,361 (GRCm39)	S183R	probably benign	Het
Vmn2r112	G	T	17: 22,837,216 (GRCm39)	C559F	probably damaging	Het
Wdhd1	T	C	14: 47,481,324 (GRCm39)	D1031G	possibly damaging	Het
Wnt5b	T	C	6: 119,410,457 (GRCm39)	S328G	probably benign	Het
Zcchc7	T	C	4: 44,926,032 (GRCm39)	Y344H	probably 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
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
R7547:Dchs2	UTSW	3	83,263,434 (GRCm39)	missense	probably damaging	0.96
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'- TGAGTGAAGATACACCCATCG -3'
(R):5'- GTCATCTGCCGATACCATGGTG -3'

Sequencing Primer
(F):5'- TGACGGTGACTACTCTTTCGAAAAC -3'
(R):5'- GATACCATGGTGATGTGACTCCC -3'

Posted On

2018-05-04