Mutagenetix > Incidental Mutation

Incidental Mutation 'R5857:Dchs2'

454941

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

044069-MU

Accession Numbers

Essential gene?

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

Stock #

R5857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83177620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 891 (I891S)

Ref Sequence

ENSEMBL: ENSMUSP00000141425 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191829
AA Change: I891S

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I891S

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

0.1001

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,203,369 (GRCm39)	I266V	probably benign	Het
Anks6	C	T	4: 47,039,736 (GRCm39)	A492T	possibly damaging	Het
Ano1	A	T	7: 144,190,840 (GRCm39)	C415S	probably benign	Het
Anxa3	T	A	5: 96,976,651 (GRCm39)		probably null	Het
Apob	T	C	12: 8,065,397 (GRCm39)	V4089A	probably benign	Het
Arhgap23	C	T	11: 97,342,405 (GRCm39)	A229V	possibly damaging	Het
Atad5	T	C	11: 80,022,155 (GRCm39)	F1447L	probably benign	Het
Btbd8	T	A	5: 107,609,398 (GRCm39)	D212E	probably damaging	Het
Ccdc38	G	T	10: 93,398,695 (GRCm39)	A58S	possibly damaging	Het
Cep112	T	C	11: 108,422,297 (GRCm39)		probably benign	Het
Col4a2	G	A	8: 11,475,442 (GRCm39)	G622D	probably damaging	Het
Crhbp	T	A	13: 95,578,740 (GRCm39)	Q134L	probably benign	Het
Ctnnbl1	T	C	2: 157,631,018 (GRCm39)	S145P	probably damaging	Het
Cyp4f16	T	A	17: 32,755,998 (GRCm39)	L9Q	probably damaging	Het
Disp3	A	T	4: 148,333,640 (GRCm39)	V1066D	probably benign	Het
Dlgap1	A	G	17: 71,122,388 (GRCm39)		probably benign	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,412,397 (GRCm39)	C929S	probably benign	Het
Gatb	T	C	3: 85,483,239 (GRCm39)	F82S	probably damaging	Het
Gk5	C	A	9: 96,001,508 (GRCm39)	S2*	probably null	Het
Gpr135	G	A	12: 72,117,614 (GRCm39)	A51V	probably benign	Het
Hoxa9	T	A	6: 52,201,277 (GRCm39)	N255Y	probably damaging	Het
Igkv8-18	T	C	6: 70,332,904 (GRCm39)	V15A	probably benign	Het
Ism2	T	C	12: 87,326,835 (GRCm39)	D368G	probably damaging	Het
Krtap6-2	A	T	16: 89,216,530 (GRCm39)	S146T	unknown	Het
Lama1	T	A	17: 68,114,838 (GRCm39)	L2329H	probably damaging	Het
Llgl2	T	A	11: 115,741,107 (GRCm39)	I507N	probably damaging	Het
Lmna	GCTGCCCACAC	GC	3: 88,389,838 (GRCm39)		probably benign	Het
Lrfn3	A	T	7: 30,058,863 (GRCm39)	I454N	possibly damaging	Het
Mdn1	C	A	4: 32,670,646 (GRCm39)	T437K	probably benign	Het
Nat8f3	T	C	6: 85,738,735 (GRCm39)	Y9C	probably damaging	Het
Niban2	T	A	2: 32,799,920 (GRCm39)	N82K	probably benign	Het
Nlrp4d	C	A	7: 10,116,304 (GRCm39)	G156V	noncoding transcript	Het
Npnt	A	T	3: 132,614,110 (GRCm39)	C167S	probably damaging	Het
Nr3c2	A	G	8: 77,635,496 (GRCm39)	N199S	possibly damaging	Het
Or10x4	T	G	1: 174,218,674 (GRCm39)	I13R	possibly damaging	Het
Or8b12i	C	T	9: 20,082,535 (GRCm39)	D111N	probably damaging	Het
Or8b37	T	G	9: 37,959,049 (GRCm39)	V177G	probably benign	Het
Pabpc1l	T	A	2: 163,886,175 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,176,848 (GRCm39)	I366T	probably benign	Het
Prl7a1	A	T	13: 27,824,684 (GRCm39)	D50E	probably damaging	Het
Rad52	T	G	6: 119,887,968 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,271,007 (GRCm39)	L610Q	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Scube1	G	T	15: 83,491,461 (GRCm39)		probably benign	Het
Sptbn4	G	T	7: 27,118,138 (GRCm39)	R314S	possibly damaging	Het
Togaram1	T	A	12: 65,042,331 (GRCm39)	I1130K	possibly damaging	Het
Tsc2	T	C	17: 24,818,981 (GRCm39)	E1352G	probably damaging	Het
Ube2d2a	A	G	18: 35,938,596 (GRCm39)	T142A	probably benign	Het
Vps18	T	C	2: 119,128,014 (GRCm39)	Y946H	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
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
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'- GCAATGACTTACTTGCTCATTGTCC -3'
(R):5'- GGCGGTTGTCATTGACATCC -3'

Sequencing Primer
(F):5'- TCATTGTCCACCGGCCG -3'
(R):5'- GGTTGTCATTGACATCCATCACTG -3'

Posted On

2017-02-10