Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Dchs2'

609049

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

045938-MU

Accession Numbers

Essential gene?

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

Stock #

R7886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83212392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2064 (I2064F)

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: I2064F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I2064F

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,811,437 (GRCm39)	I130S	unknown	Het
Ano5	A	G	7: 51,220,141 (GRCm39)	H427R	probably benign	Het
Atad2	A	T	15: 57,989,532 (GRCm39)	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,002,923 (GRCm39)	Y147H	probably damaging	Het
C1s2	T	C	6: 124,605,289 (GRCm39)	S349G	possibly damaging	Het
Ccdc51	G	T	9: 108,920,655 (GRCm39)	A181S	probably damaging	Het
Dcc	G	A	18: 72,087,939 (GRCm39)	Q100*	probably null	Het
Depdc1a	G	A	3: 159,221,706 (GRCm39)	V217I	probably benign	Het
Dnajc7	A	T	11: 100,492,629 (GRCm39)	F31I	probably benign	Het
Eftud2	C	T	11: 102,730,934 (GRCm39)	R825H	probably damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Fdx2	A	T	9: 20,984,623 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,934,643 (GRCm39)	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,374,229 (GRCm39)	R446W	probably damaging	Het
Get1	T	A	16: 95,946,768 (GRCm39)	L31Q	possibly damaging	Het
Gm42669	A	G	5: 107,656,572 (GRCm39)	E362G		Het
Hmcn1	A	T	1: 150,533,221 (GRCm39)	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,601,506 (GRCm39)	V171F	probably damaging	Het
Igsf10	T	C	3: 59,235,748 (GRCm39)	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,077,045 (GRCm39)	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,351,406 (GRCm39)		probably null	Het
Macrod2	G	A	2: 141,566,565 (GRCm39)	G188S	probably damaging	Het
Mapkbp1	T	C	2: 119,843,128 (GRCm39)	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,654,343 (GRCm39)	E58G	probably damaging	Het
Muc16	A	T	9: 18,497,278 (GRCm39)	C6625S	probably benign	Het
Naip5	A	T	13: 100,382,689 (GRCm39)	S7T	probably benign	Het
Nfs1	T	A	2: 155,983,981 (GRCm39)	D132V	unknown	Het
Nlgn1	T	C	3: 25,490,071 (GRCm39)	D552G	probably damaging	Het
Numa1	C	T	7: 101,663,072 (GRCm39)	T2066I	probably benign	Het
Or10k2	T	C	8: 84,268,576 (GRCm39)	S268P	possibly damaging	Het
Or2t48	C	A	11: 58,419,880 (GRCm39)	V311L	probably benign	Het
Or4k2	A	T	14: 50,424,021 (GRCm39)	Y219N	probably damaging	Het
Or7a39	A	G	10: 78,715,657 (GRCm39)	Y217C	possibly damaging	Het
Or7g29	A	T	9: 19,287,202 (GRCm39)		probably null	Het
Pde11a	C	T	2: 76,121,547 (GRCm39)	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,637,735 (GRCm39)	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,452,641 (GRCm39)	Q643*	probably null	Het
Pold2	T	C	11: 5,822,714 (GRCm39)	Y402C	probably damaging	Het
Pom121	T	C	5: 135,410,848 (GRCm39)	T770A	unknown	Het
Pou4f1	A	T	14: 104,704,228 (GRCm39)	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,073,020 (GRCm39)	Q265K	probably benign	Het
Pygl	A	G	12: 70,253,130 (GRCm39)		probably null	Het
Rdh19	A	G	10: 127,686,169 (GRCm39)	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,033,922 (GRCm39)	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,886,366 (GRCm39)	A337T	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,746 (GRCm39)	E381G	possibly damaging	Het
Tnik	A	G	3: 28,720,288 (GRCm39)	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,193,638 (GRCm39)	G54C	probably damaging	Het
Usp25	A	T	16: 76,910,659 (GRCm39)	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 19,835,490 (GRCm39)	N136K	probably benign	Het
Wdr70	C	T	15: 8,108,733 (GRCm39)	E138K	probably benign	Het
Zbed3	A	G	13: 95,472,633 (GRCm39)	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,439,868 (GRCm39)	K184R	possibly 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
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
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'- CAGAGACTGCAGCACTCAAG -3'
(R):5'- AGTCCTGTGTAGAGATAGCGG -3'

Sequencing Primer
(F):5'- GCAGCGTGCTCTCCATAC -3'
(R):5'- CCTGTGTAGAGATAGCGGCTGAAG -3'

Posted On

2019-12-20