Mutagenetix > Incidental Mutation

Incidental Mutation 'R8160:Dchs2'

633468

Institutional Source

Beutler Lab

Gene Symbol

Dchs2

Ensembl Gene

ENSMUSG00000102692

Gene Name

dachsous cadherin related 2

Synonyms

LOC229459

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83127948-83357209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83270805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1055 (Q1055L)

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: Q1055L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: Q1055L

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: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415F15Rik	T	C	11: 11,487,734	S246P	unknown	Het
Adam12	C	T	7: 133,968,041		probably null	Het
Aldh8a1	A	G	10: 21,395,791	D472G	possibly damaging	Het
Appl1	T	C	14: 26,928,635	I527V	probably benign	Het
Arhgef4	C	A	1: 34,723,574	T637K	unknown	Het
Atp7b	G	A	8: 21,997,559	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,117,822	S35T		Het
Cdh24	C	A	14: 54,638,489	V208F	probably damaging	Het
Dock8	G	A	19: 25,147,347	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,813,762	V58E	probably benign	Het
Fam208a	T	A	14: 27,449,956	N420K	probably damaging	Het
Fam209	A	T	2: 172,472,725	I45F	possibly damaging	Het
Hfm1	T	C	5: 106,896,033	Y579C	probably null	Het
Hipk4	C	T	7: 27,523,761	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,476,528	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kdm5b	T	A	1: 134,613,919	M744K	probably damaging	Het
Mettl16	T	C	11: 74,817,679	V568A	probably damaging	Het
Mink1	C	T	11: 70,606,081	Q422*	probably null	Het
Mvb12b	G	T	2: 33,840,222	D81E	probably benign	Het
Nostrin	A	T	2: 69,179,466	I313F	probably damaging	Het
Nsun6	A	G	2: 15,009,408		probably null	Het
Nt5dc1	T	A	10: 34,324,396	E209V	possibly damaging	Het
Oasl2	T	C	5: 114,901,286		probably benign	Het
Olfr303	C	T	7: 86,395,265	V78M	possibly damaging	Het
Olfr517	C	T	7: 108,868,788	R122Q	possibly damaging	Het
Olfr857	T	A	9: 19,712,789		probably benign	Het
Ppm1h	A	T	10: 122,802,436	T204S	probably benign	Het
Rad51b	T	A	12: 79,303,341	L70I	probably benign	Het
Smok3c	A	G	5: 138,065,024	T258A	possibly damaging	Het
Snai2	T	C	16: 14,706,804	V58A	possibly damaging	Het
St6galnac1	G	A	11: 116,775,490		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
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
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'- TACAGCCTTGTACCTTGCACG -3'
(R):5'- TTCCAAACACTGCAGAGTCC -3'

Sequencing Primer
(F):5'- ACTGGTCCGGTACAGCATC -3'
(R):5'- TGCAGAGTCCACGCTGACATC -3'

Posted On

2020-07-13