Mutagenetix > Incidental Mutation

Incidental Mutation 'R6075:Dchs2'

482685

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

044236-MU

Accession Numbers

Essential gene?

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

Stock #

R6075 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83262368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 2879 (R2879G)

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: R2879G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: R2879G

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Areg	A	T	5: 91,291,456 (GRCm39)	K133M	probably damaging	Het
Atxn2l	A	T	7: 126,091,689 (GRCm39)	D1076E	possibly damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
BC048507	A	G	13: 68,011,823 (GRCm39)	T67A	probably benign	Het
Cacna1g	T	A	11: 94,307,491 (GRCm39)	I1746F	probably damaging	Het
Ccdc34	T	C	2: 109,874,580 (GRCm39)	I313T	possibly damaging	Het
Cma1	T	A	14: 56,179,771 (GRCm39)	I138F	probably damaging	Het
Col5a2	A	G	1: 45,542,008 (GRCm39)	S23P	unknown	Het
Csmd2	C	A	4: 128,380,658 (GRCm39)	S2071R	probably benign	Het
Cyp2j11	T	G	4: 96,233,322 (GRCm39)	N125H	probably benign	Het
Dnah11	A	T	12: 118,068,586 (GRCm39)	C1591S	probably damaging	Het
Dock9	C	T	14: 121,783,385 (GRCm39)	R2038H	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo21	G	A	5: 118,126,948 (GRCm39)	R233H	probably damaging	Het
Firrm	T	C	1: 163,805,656 (GRCm39)	Y316C	probably damaging	Het
Gm6526	A	G	14: 43,986,331 (GRCm39)	I86V	probably damaging	Het
Gpr107	T	A	2: 31,042,384 (GRCm39)	V5E	probably benign	Het
Hat1	A	T	2: 71,240,585 (GRCm39)	D93V	probably benign	Het
Kctd21	T	A	7: 96,996,614 (GRCm39)	L29Q	probably damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Lsamp	A	G	16: 41,954,788 (GRCm39)	K229E	probably benign	Het
Mcm5	A	G	8: 75,840,825 (GRCm39)	D210G	probably damaging	Het
Mdn1	T	C	4: 32,689,581 (GRCm39)	V930A	possibly damaging	Het
Megf6	T	A	4: 154,347,056 (GRCm39)	C652*	probably null	Het
Nae1	A	T	8: 105,251,001 (GRCm39)	L196H	possibly damaging	Het
Ncor1	G	T	11: 62,208,675 (GRCm39)	D156E	probably damaging	Het
Nop14	A	T	5: 34,817,235 (GRCm39)	V52E	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Parp14	A	T	16: 35,677,389 (GRCm39)	C860S	probably damaging	Het
Ptpn4	T	C	1: 119,692,866 (GRCm39)	Y161C	probably damaging	Het
Ptpn9	T	A	9: 56,968,430 (GRCm39)	M590K	probably benign	Het
Ptprq	A	G	10: 107,361,621 (GRCm39)	I2130T	probably damaging	Het
Pudp	C	A	18: 50,701,299 (GRCm39)	G145W	probably damaging	Het
Pxk	A	G	14: 8,150,964 (GRCm38)	K423R	probably benign	Het
Ryr1	A	G	7: 28,786,863 (GRCm39)	S1584P	probably damaging	Het
Scap	G	A	9: 110,207,845 (GRCm39)	R518H	probably damaging	Het
Slc5a12	T	C	2: 110,447,092 (GRCm39)	L200P	probably damaging	Het
Sntg1	T	A	1: 8,749,338 (GRCm39)	*72Y	probably null	Het
Speer4f1	A	C	5: 17,684,482 (GRCm39)	Q170P	possibly damaging	Het
Taar7d	A	C	10: 23,903,558 (GRCm39)	I147L	probably benign	Het
Tet2	T	C	3: 133,177,196 (GRCm39)	K1284E	possibly damaging	Het
Trpm2	A	C	10: 77,770,877 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,204,327 (GRCm39)	S412T	probably benign	Het
Zfyve26	A	G	12: 79,340,628 (GRCm39)	V82A	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
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'- TGAGAGTGTCAGGGAGTACTGC -3'
(R):5'- CAAACACGCTGCAGGATGTG -3'

Posted On

2017-07-14