Mutagenetix > Incidental Mutation

Incidental Mutation 'R9322:Dchs2'

706253

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83035255-83264516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83189001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1455 (I1455N)

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: I1455N

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I1455N

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,192,331 (GRCm39)	V727A	probably damaging	Het
Arhgef33	T	A	17: 80,677,818 (GRCm39)	L455*	probably null	Het
Arnt	T	C	3: 95,397,929 (GRCm39)	S591P	probably benign	Het
Asic4	A	G	1: 75,446,462 (GRCm39)	M335V	probably benign	Het
Atp1a2	A	G	1: 172,107,625 (GRCm39)	S665P	possibly damaging	Het
Cat	T	C	2: 103,303,333 (GRCm39)	N148S	probably damaging	Het
Ccdc121rt3	T	A	5: 112,503,272 (GRCm39)	Y144F	probably damaging	Het
Ccdc9	T	C	7: 16,012,360 (GRCm39)	D274G	probably damaging	Het
Ciao3	G	C	17: 25,998,548 (GRCm39)	Q217H	probably damaging	Het
Csnk1g2	T	C	10: 80,474,978 (GRCm39)	Y332H	probably damaging	Het
Csrnp1	T	C	9: 119,801,853 (GRCm39)	E402G	probably damaging	Het
Dnah12	A	T	14: 26,492,934 (GRCm39)	I1232F	possibly damaging	Het
Dsn1	C	T	2: 156,843,669 (GRCm39)	V144I	possibly damaging	Het
Efcab3	A	T	11: 104,765,199 (GRCm39)	E2501V	probably benign	Het
Epha6	A	T	16: 60,245,118 (GRCm39)	S360R	probably damaging	Het
Fasl	A	T	1: 161,609,512 (GRCm39)	L158Q	probably damaging	Het
Filip1	A	T	9: 79,727,014 (GRCm39)	V535E	probably benign	Het
Fmo5	A	T	3: 97,546,190 (GRCm39)	K168*	probably null	Het
Gm5157	T	G	7: 20,919,431 (GRCm39)	K37N	probably benign	Het
Grm8	T	A	6: 27,363,728 (GRCm39)	I596F	possibly damaging	Het
Il23a	T	C	10: 128,132,990 (GRCm39)	E123G	probably benign	Het
Itpr2	T	C	6: 146,226,587 (GRCm39)	T1386A	probably benign	Het
Krt79	T	A	15: 101,840,245 (GRCm39)	Q317L	possibly damaging	Het
Lhx4	A	G	1: 155,578,353 (GRCm39)	I263T	probably benign	Het
Med4	T	C	14: 73,747,601 (GRCm39)	L34P	probably damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mief2	A	T	11: 60,621,844 (GRCm39)	H138L	possibly damaging	Het
Nat3	A	T	8: 68,000,162 (GRCm39)	K14*	probably null	Het
Nbeal1	T	A	1: 60,297,818 (GRCm39)	I1216N	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,118 (GRCm39)	E461G	probably benign	Het
Or11h23	C	A	14: 50,948,507 (GRCm39)	T240N	probably damaging	Het
Or5aq7	T	C	2: 86,938,561 (GRCm39)	T57A	probably damaging	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Pdha2	C	A	3: 140,916,550 (GRCm39)	M319I	probably benign	Het
Pik3r2	A	G	8: 71,227,494 (GRCm39)	V43A	possibly damaging	Het
Psd	T	A	19: 46,301,880 (GRCm39)	E902V	probably damaging	Het
Psme3	A	C	11: 101,211,437 (GRCm39)	H198P	probably damaging	Het
Rlbp1	T	C	7: 79,027,003 (GRCm39)	D219G	possibly damaging	Het
Scn1b	C	A	7: 30,824,517 (GRCm39)	W57L	probably damaging	Het
Sfrp2	T	C	3: 83,674,006 (GRCm39)	I53T	probably damaging	Het
Skic2	T	C	17: 35,066,439 (GRCm39)		probably null	Het
Slc18a3	A	G	14: 32,185,282 (GRCm39)	I367T	probably benign	Het
Slc44a2	A	T	9: 21,258,246 (GRCm39)	R499W	probably damaging	Het
St18	A	G	1: 6,865,747 (GRCm39)	D75G	probably benign	Het
Trim67	C	A	8: 125,549,967 (GRCm39)	Y532*	probably null	Het
Ttc16	C	T	2: 32,664,952 (GRCm39)		probably benign	Het
Usp7	A	T	16: 8,517,124 (GRCm39)	S487T	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r70	T	C	7: 85,208,498 (GRCm39)	T660A	possibly damaging	Het
Zer1	A	T	2: 30,000,923 (GRCm39)	V166D	probably benign	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
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
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'- GTTATCCCGGAAAACACGAAGC -3'
(R):5'- TGTTCAGAAAACTGCCATCGCC -3'

Sequencing Primer
(F):5'- GCCTTCAAAGATCATGAGCCTGATG -3'
(R):5'- GAAAACTGCCATCGCCATCTTTG -3'

Posted On

2022-04-18