Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Dchs2'

541445

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

045067-MU

Accession Numbers

Essential gene?

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

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83261233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2500 (N2500K)

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: N2500K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: N2500K

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,781,762 (GRCm39)	V945M	probably benign	Het
Amotl2	A	G	9: 102,601,967 (GRCm39)	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,163,132 (GRCm39)	I86T	possibly damaging	Het
C9	A	T	15: 6,474,945 (GRCm39)	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,862,528 (GRCm39)	P661T	probably damaging	Het
Ccdc202	T	A	14: 96,119,869 (GRCm39)	W209R	probably damaging	Het
Dcdc2a	T	A	13: 25,303,349 (GRCm39)	S293R	probably benign	Het
Dicer1	A	G	12: 104,697,282 (GRCm39)	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,616,446 (GRCm39)	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,471,470 (GRCm39)	S364G	probably damaging	Het
Dpp6	A	T	5: 27,803,819 (GRCm39)	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,252,748 (GRCm39)	I440T	probably damaging	Het
Fam184b	T	C	5: 45,688,099 (GRCm39)	T937A	probably damaging	Het
Fam229b	T	A	10: 39,009,843 (GRCm39)		probably null	Het
Gbp11	A	G	5: 105,476,241 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
H2-T3	T	A	17: 36,500,263 (GRCm39)	Y144F	probably damaging	Het
Kel	T	G	6: 41,664,907 (GRCm39)	D7A	probably damaging	Het
Lrrc7	A	G	3: 157,994,668 (GRCm39)	V166A	probably benign	Het
Mapt	T	C	11: 104,209,081 (GRCm39)		probably null	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Mboat1	T	C	13: 30,422,059 (GRCm39)	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,435,621 (GRCm39)	D604G	probably damaging	Het
Muc16	T	C	9: 18,556,322 (GRCm39)	T3324A	unknown	Het
Nalf1	T	A	8: 9,820,744 (GRCm39)	Q92L	probably benign	Het
Nat10	T	C	2: 103,564,757 (GRCm39)	I495V	probably benign	Het
Or6c208	A	T	10: 129,224,166 (GRCm39)	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,635,337 (GRCm39)	N75D	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 92,012,941 (GRCm39)		probably null	Het
Scube1	T	C	15: 83,606,077 (GRCm39)	Y65C	probably damaging	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Socs7	T	C	11: 97,267,849 (GRCm39)	S327P	probably benign	Het
Spef2	A	T	15: 9,685,021 (GRCm39)	D591E	probably damaging	Het
Sult2a6	T	A	7: 13,988,748 (GRCm39)	D4V	possibly damaging	Het
Tdpoz8	T	C	3: 92,981,279 (GRCm39)	V25A	possibly damaging	Het
Tdrd9	A	G	12: 112,002,788 (GRCm39)		probably benign	Het
Tgm4	G	T	9: 122,893,768 (GRCm39)	M155I	possibly damaging	Het
Togaram2	T	C	17: 72,036,183 (GRCm39)	V891A	probably benign	Het
Usp1	A	G	4: 98,819,243 (GRCm39)	E235G	probably damaging	Het
Usp2	T	A	9: 44,004,053 (GRCm39)	V533E	probably damaging	Het
Vcan	T	A	13: 89,837,550 (GRCm39)	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,397,505 (GRCm39)	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,225,136 (GRCm39)	C458F	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
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
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'- TTGGCTGTAACTTAAAACACCCAG -3'
(R):5'- GCCGCTGATGATAGAATACTCG -3'

Sequencing Primer
(F):5'- TGTAACTTAAAACACCCAGCGAAGAG -3'
(R):5'- TGTTTTCGAAAGAGTAGTCACCGTC -3'

Posted On

2018-11-28