Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Dchs2'

479529

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

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

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83127948-83357209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83346227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 2315 (V2315L)

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: V2315L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V2315L

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

Meta Mutation Damage Score

0.3548

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,160,918	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 82,062,739	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,511,916		probably null	Het
Abcg5	T	G	17: 84,668,964	I482L	probably benign	Het
Adgrf5	T	A	17: 43,437,571	D44E	probably damaging	Het
Amh	A	G	10: 80,805,471	N75S	probably benign	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bpifb4	T	C	2: 153,942,560	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,379,421	E1449V	probably null	Het
Chml	A	G	1: 175,688,028	V109A	probably benign	Het
Crybg3	G	T	16: 59,554,474	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,734,336	D256G	probably damaging	Het
Ddx20	T	C	3: 105,683,420	I227V	possibly damaging	Het
Drg2	T	C	11: 60,462,625	V266A	possibly damaging	Het
Flcn	C	A	11: 59,792,622	E576D	probably benign	Het
Fstl5	T	A	3: 76,410,592	D188E	probably damaging	Het
Gm14496	A	G	2: 181,997,530	Q471R	probably benign	Het
Gm43772	T	C	5: 66,174,991		probably benign	Het
Gpc6	C	T	14: 117,951,261	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,335,802	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,660,987	C1050*	probably null	Het
Larp4b	T	C	13: 9,168,757	V510A	probably benign	Het
Map3k13	A	T	16: 21,905,183	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,339,247	I226F	possibly damaging	Het
Mme	G	A	3: 63,343,508	W323*	probably null	Het
Mrpl24	A	G	3: 87,922,398	Y97C	probably benign	Het
Mslnl	G	A	17: 25,746,775	S541N	probably benign	Het
Npepl1	T	C	2: 174,121,057	V412A	probably benign	Het
Nrg3	T	A	14: 39,472,452	K117*	probably null	Het
Olfr1275	T	C	2: 111,230,930	T288A	probably benign	Het
Olfr736	G	T	14: 50,393,491	C245F	probably damaging	Het
Orc2	A	T	1: 58,467,692	M447K	probably benign	Het
Phf3	A	T	1: 30,804,345	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,793,290	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,179,949	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,181,449		probably null	Het
Secisbp2	T	C	13: 51,665,359	I325T	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slc4a10	A	G	2: 62,268,872	M625V	probably benign	Het
Synpo	T	A	18: 60,603,615	M420L	probably benign	Het
Tmem116	A	C	5: 121,517,892	*147C	probably null	Het
Top2b	G	A	14: 16,423,779		probably null	Het
Trp53bp2	T	A	1: 182,455,740	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,765,360	F896L	probably damaging	Het
Vil1	T	C	1: 74,419,867	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,375,054	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,453,666	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,965,343	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,029,290	M472V	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp677	A	G	17: 21,397,656	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,558,704	F407S	probably damaging	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
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
R7587:Dchs2	UTSW	3	83304515	missense	probably benign
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'- TGCTATTTAGAAAATGCCATGGGAG -3'
(R):5'- TGAACGCAAATCCAAGTGTTAG -3'

Sequencing Primer
(F):5'- ATGCCATGGGAGAAATAAATGTC -3'
(R):5'- CCAAGTGTTAGGATATAAAGCCCTTG -3'

Posted On

2017-06-26