Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Dchs2'

587195

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83127948-83357209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83304515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1874 (I1874V)

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: I1874V

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

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I1874V

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279		probably null	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Ltbr	T	C	6: 125,312,352	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	probably benign	Het

Other mutations in Dchs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1707:Dchs2	UTSW	3	83127605	unclassified	probably benign
R5857:Dchs2	UTSW	3	83270313	missense	possibly damaging	0.79
R5897:Dchs2	UTSW	3	83285410	missense	possibly damaging	0.95
R5959:Dchs2	UTSW	3	83325418	missense	probably benign	0.01
R6007:Dchs2	UTSW	3	83346227	missense	probably damaging	0.99
R6054:Dchs2	UTSW	3	83346236	missense	probably benign	0.00
R6059:Dchs2	UTSW	3	83355736	missense	probably benign	0.06
R6075:Dchs2	UTSW	3	83355061	missense	possibly damaging	0.68
R6379:Dchs2	UTSW	3	83355146	missense	probably damaging	1.00
R6393:Dchs2	UTSW	3	83129911	missense	probably damaging	1.00
R6405:Dchs2	UTSW	3	83354263	missense	probably benign	0.01
R6432:Dchs2	UTSW	3	83271118	missense	possibly damaging	0.96
R6434:Dchs2	UTSW	3	83269270	missense	probably damaging	1.00
R6561:Dchs2	UTSW	3	83129169	missense	probably benign	0.04
R6798:Dchs2	UTSW	3	83348286	missense	probably damaging	1.00
R6801:Dchs2	UTSW	3	83128534	missense	probably benign	0.00
R6855:Dchs2	UTSW	3	83348194	missense	probably benign	0.08
R6956:Dchs2	UTSW	3	83353926	missense	probably benign	0.00
R7090:Dchs2	UTSW	3	83348274	missense	probably benign	0.03
R7249:Dchs2	UTSW	3	83128029	nonsense	probably null
R7252:Dchs2	UTSW	3	83325303	missense	probably benign	0.04
R7462:Dchs2	UTSW	3	83346155	splice site	probably null
R7482:Dchs2	UTSW	3	83248725	missense	possibly damaging	0.68
R7487:Dchs2	UTSW	3	83356306	missense	probably damaging	0.99
R7529:Dchs2	UTSW	3	83354398	missense	possibly damaging	0.89
R7542:Dchs2	UTSW	3	83269284	missense	probably benign	0.16
R7544:Dchs2	UTSW	3	83355127	missense	probably damaging	1.00
R7547:Dchs2	UTSW	3	83356127	missense	probably damaging	0.96
R7632:Dchs2	UTSW	3	83348050	missense	probably benign	0.00
R7694:Dchs2	UTSW	3	83129482	missense	probably damaging	1.00
R7701:Dchs2	UTSW	3	83346206	missense	possibly damaging	0.83
R7746:Dchs2	UTSW	3	83128057	missense	possibly damaging	0.94
R7838:Dchs2	UTSW	3	83304527	missense	probably benign	0.01
R7886:Dchs2	UTSW	3	83305085	missense	probably damaging	1.00
R8055:Dchs2	UTSW	3	83129725	missense	probably benign	0.00
R8068:Dchs2	UTSW	3	83300438	missense	probably benign	0.12
R8094:Dchs2	UTSW	3	83355622	missense	probably benign	0.02
R8160:Dchs2	UTSW	3	83270805	missense	probably benign	0.19
R8166:Dchs2	UTSW	3	83354333	missense	probably benign	0.28
R8278:Dchs2	UTSW	3	83271003	missense	probably damaging	1.00
R8422:Dchs2	UTSW	3	83325263	missense	probably benign	0.30
R8506:Dchs2	UTSW	3	83301174	missense	probably benign	0.17
R8517:Dchs2	UTSW	3	83271112	missense	probably damaging	0.96
R8528:Dchs2	UTSW	3	83354611	missense	probably damaging	0.96
R8693:Dchs2	UTSW	3	83285324	missense	probably damaging	1.00
R8708:Dchs2	UTSW	3	83128742	missense	probably benign	0.00
R8757:Dchs2	UTSW	3	83354260	missense	possibly damaging	0.96
R8768:Dchs2	UTSW	3	83346285	missense	probably benign	0.12
R8776:Dchs2	UTSW	3	83356394	missense	possibly damaging	0.46
R8776-TAIL:Dchs2	UTSW	3	83356394	missense	possibly damaging	0.46
R8802:Dchs2	UTSW	3	83346237	missense	probably benign	0.01
R8821:Dchs2	UTSW	3	83285363	missense	probably benign	0.00
R8831:Dchs2	UTSW	3	83285363	missense	probably benign	0.00
R8897:Dchs2	UTSW	3	83129413	missense	probably damaging	1.00
R8957:Dchs2	UTSW	3	83282266	missense
R8973:Dchs2	UTSW	3	83354456	missense	possibly damaging	0.86
R8991:Dchs2	UTSW	3	83128836	missense	probably benign	0.00
R9015:Dchs2	UTSW	3	83281444	missense	possibly damaging	0.86
R9051:Dchs2	UTSW	3	83354186	missense	probably benign	0.02
R9117:Dchs2	UTSW	3	83269355	missense	probably benign	0.31
R9120:Dchs2	UTSW	3	83280228	missense	probably damaging	0.99
R9189:Dchs2	UTSW	3	83348254	missense	probably damaging	1.00
R9264:Dchs2	UTSW	3	83270477	missense	probably damaging	1.00
R9280:Dchs2	UTSW	3	83281948	missense	possibly damaging	0.88
R9293:Dchs2	UTSW	3	83282054	missense	possibly damaging	0.90
R9322:Dchs2	UTSW	3	83281694	missense	possibly damaging	0.73
R9345:Dchs2	UTSW	3	83128794	missense	probably benign	0.00
R9408:Dchs2	UTSW	3	83285266	missense	probably benign	0.02
R9432:Dchs2	UTSW	3	83128725	missense	possibly damaging	0.65
R9445:Dchs2	UTSW	3	83238977	missense	probably damaging	0.99
R9466:Dchs2	UTSW	3	83269257	missense	probably damaging	1.00
R9612:Dchs2	UTSW	3	83270886	missense	probably damaging	0.97
R9622:Dchs2	UTSW	3	83356459	nonsense	probably null
R9679:Dchs2	UTSW	3	83354390	missense	probably damaging	0.99
R9722:Dchs2	UTSW	3	83353994	missense	probably benign	0.01
R9767:Dchs2	UTSW	3	83304899	missense	probably benign	0.01
RF012:Dchs2	UTSW	3	83355068	missense	probably benign	0.03
Z1177:Dchs2	UTSW	3	83271140	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTAGAAGCTACCAACTCTGCCG -3'
(R):5'- CGTTGAGACCCTCATCTCTG -3'

Sequencing Primer
(F):5'- AGCTACCAACTCTGCCGTGTTC -3'
(R):5'- ATCTCTGTCCACGGCAGAC -3'

Posted On

2019-10-24