Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Dchs2'

702409

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: 0.338) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83127948-83357209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83270477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 946 (V946M)

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: V946M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V946M

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly damaging	Het

Other mutations in Dchs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1707:Dchs2	UTSW	3	83127605	unclassified	probably benign
R5857:Dchs2	UTSW	3	83270313	missense	possibly damaging	0.79
R5897:Dchs2	UTSW	3	83285410	missense	possibly damaging	0.95
R5959:Dchs2	UTSW	3	83325418	missense	probably benign	0.01
R6007:Dchs2	UTSW	3	83346227	missense	probably damaging	0.99
R6054:Dchs2	UTSW	3	83346236	missense	probably benign	0.00
R6059:Dchs2	UTSW	3	83355736	missense	probably benign	0.06
R6075:Dchs2	UTSW	3	83355061	missense	possibly damaging	0.68
R6379:Dchs2	UTSW	3	83355146	missense	probably damaging	1.00
R6393:Dchs2	UTSW	3	83129911	missense	probably damaging	1.00
R6405:Dchs2	UTSW	3	83354263	missense	probably benign	0.01
R6432:Dchs2	UTSW	3	83271118	missense	possibly damaging	0.96
R6434:Dchs2	UTSW	3	83269270	missense	probably damaging	1.00
R6561:Dchs2	UTSW	3	83129169	missense	probably benign	0.04
R6798:Dchs2	UTSW	3	83348286	missense	probably damaging	1.00
R6801:Dchs2	UTSW	3	83128534	missense	probably benign	0.00
R6855:Dchs2	UTSW	3	83348194	missense	probably benign	0.08
R6956:Dchs2	UTSW	3	83353926	missense	probably benign	0.00
R7090:Dchs2	UTSW	3	83348274	missense	probably benign	0.03
R7249:Dchs2	UTSW	3	83128029	nonsense	probably null
R7252:Dchs2	UTSW	3	83325303	missense	probably benign	0.04
R7462:Dchs2	UTSW	3	83346155	splice site	probably null
R7482:Dchs2	UTSW	3	83248725	missense	possibly damaging	0.68
R7487:Dchs2	UTSW	3	83356306	missense	probably damaging	0.99
R7529:Dchs2	UTSW	3	83354398	missense	possibly damaging	0.89
R7542:Dchs2	UTSW	3	83269284	missense	probably benign	0.16
R7544:Dchs2	UTSW	3	83355127	missense	probably damaging	1.00
R7547:Dchs2	UTSW	3	83356127	missense	probably damaging	0.96
R7587:Dchs2	UTSW	3	83304515	missense	probably benign
R7632:Dchs2	UTSW	3	83348050	missense	probably benign	0.00
R7694:Dchs2	UTSW	3	83129482	missense	probably damaging	1.00
R7701:Dchs2	UTSW	3	83346206	missense	possibly damaging	0.83
R7746:Dchs2	UTSW	3	83128057	missense	possibly damaging	0.94
R7838:Dchs2	UTSW	3	83304527	missense	probably benign	0.01
R7886:Dchs2	UTSW	3	83305085	missense	probably damaging	1.00
R8055:Dchs2	UTSW	3	83129725	missense	probably benign	0.00
R8068:Dchs2	UTSW	3	83300438	missense	probably benign	0.12
R8094:Dchs2	UTSW	3	83355622	missense	probably benign	0.02
R8160:Dchs2	UTSW	3	83270805	missense	probably benign	0.19
R8166:Dchs2	UTSW	3	83354333	missense	probably benign	0.28
R8278:Dchs2	UTSW	3	83271003	missense	probably damaging	1.00
R8422:Dchs2	UTSW	3	83325263	missense	probably benign	0.30
R8506:Dchs2	UTSW	3	83301174	missense	probably benign	0.17
R8517:Dchs2	UTSW	3	83271112	missense	probably damaging	0.96
R8528:Dchs2	UTSW	3	83354611	missense	probably damaging	0.96
R8693:Dchs2	UTSW	3	83285324	missense	probably damaging	1.00
R8708:Dchs2	UTSW	3	83128742	missense	probably benign	0.00
R8757:Dchs2	UTSW	3	83354260	missense	possibly damaging	0.96
R8768:Dchs2	UTSW	3	83346285	missense	probably benign	0.12
R8776:Dchs2	UTSW	3	83356394	missense	possibly damaging	0.46
R8776-TAIL:Dchs2	UTSW	3	83356394	missense	possibly damaging	0.46
R8802:Dchs2	UTSW	3	83346237	missense	probably benign	0.01
R8821:Dchs2	UTSW	3	83285363	missense	probably benign	0.00
R8831:Dchs2	UTSW	3	83285363	missense	probably benign	0.00
R8897:Dchs2	UTSW	3	83129413	missense	probably damaging	1.00
R8957:Dchs2	UTSW	3	83282266	missense
R8973:Dchs2	UTSW	3	83354456	missense	possibly damaging	0.86
R8991:Dchs2	UTSW	3	83128836	missense	probably benign	0.00
R9015:Dchs2	UTSW	3	83281444	missense	possibly damaging	0.86
R9051:Dchs2	UTSW	3	83354186	missense	probably benign	0.02
R9117:Dchs2	UTSW	3	83269355	missense	probably benign	0.31
R9120:Dchs2	UTSW	3	83280228	missense	probably damaging	0.99
R9189:Dchs2	UTSW	3	83348254	missense	probably damaging	1.00
R9280:Dchs2	UTSW	3	83281948	missense	possibly damaging	0.88
R9293:Dchs2	UTSW	3	83282054	missense	possibly damaging	0.90
R9322:Dchs2	UTSW	3	83281694	missense	possibly damaging	0.73
R9345:Dchs2	UTSW	3	83128794	missense	probably benign	0.00
R9408:Dchs2	UTSW	3	83285266	missense	probably benign	0.02
R9432:Dchs2	UTSW	3	83128725	missense	possibly damaging	0.65
R9445:Dchs2	UTSW	3	83238977	missense	probably damaging	0.99
R9466:Dchs2	UTSW	3	83269257	missense	probably damaging	1.00
R9612:Dchs2	UTSW	3	83270886	missense	probably damaging	0.97
R9622:Dchs2	UTSW	3	83356459	nonsense	probably null
R9679:Dchs2	UTSW	3	83354390	missense	probably damaging	0.99
R9722:Dchs2	UTSW	3	83353994	missense	probably benign	0.01
R9767:Dchs2	UTSW	3	83304899	missense	probably benign	0.01
RF012:Dchs2	UTSW	3	83355068	missense	probably benign	0.03
Z1177:Dchs2	UTSW	3	83271140	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CTCAGAGCCAATCACGTATCG -3'
(R):5'- GAGAATCAGCCTGAAGTCCG -3'

Sequencing Primer
(F):5'- GAGCCAATCACGTATCGAATTTC -3'
(R):5'- AGACTCTCCCTGAGGTACAG -3'

Posted On

2022-03-25