Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Dchs2'

589676

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: 0.326) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83127948-83357209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83348050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 2351 (A2351V)

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: A2351V

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

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: A2351V

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: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	probably benign	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
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
R9264:Dchs2	UTSW	3	83270477	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'- GCTTTAGATGAGAAATCAGGCC -3'
(R):5'- ACTGGTGGATTATCATTGACATCC -3'

Sequencing Primer
(F):5'- CTTGGGCTGAACGATTGAA -3'
(R):5'- ATGATGACGGAACCCTCTGTG -3'

Posted On

2019-10-24