Mutagenetix > Incidental Mutations

Incidental Mutation 'R8504:Csmd2'

655454

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128546690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 3183 (T3183P)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

AlphaFold

no structure available at present

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,129,334	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,283,479	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,446,949	E758G	probably benign	Het
Akap3	T	A	6: 126,864,530	D37E	probably damaging	Het
Ano5	A	T	7: 51,573,028	H445L	probably benign	Het
Ap4b1	T	A	3: 103,812,800	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,579,528	K135E	probably benign	Het
Ass1	T	C	2: 31,501,532	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,647,917	Y1119*	probably null	Het
Birc6	T	A	17: 74,652,005	M3839K	probably damaging	Het
Cacna1a	A	G	8: 84,638,741	H2171R	probably benign	Het
Ccdc105	T	C	10: 78,749,204	D266G	probably benign	Het
Ccdc105	T	C	10: 78,750,629	D196G	probably damaging	Het
Ccdc90b	T	A	7: 92,575,337	D183E	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdh23	T	A	10: 60,438,839	T491S	probably benign	Het
Cercam	T	C	2: 29,881,817	S550P	possibly damaging	Het
Chd9	A	G	8: 90,996,844	H1019R	unknown	Het
Coil	A	T	11: 88,981,154	K114*	probably null	Het
Cul9	T	C	17: 46,503,580	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,859,875	Q199*	probably null	Het
Elp3	A	T	14: 65,547,911	S499R	probably benign	Het
Exoc8	T	G	8: 124,895,970	I553L	probably benign	Het
Fyco1	C	A	9: 123,830,077	V345L	probably benign	Het
Galr3	T	A	15: 79,043,079	V240E	probably damaging	Het
Gm21190	A	G	5: 15,525,864	S165P	probably benign	Het
Gnal	T	A	18: 67,217,184	Y372*	probably null	Het
H2-DMa	A	G	17: 34,138,442	N230D	probably damaging	Het
Hk2	T	C	6: 82,744,866	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,924	I16F	possibly damaging	Het
Ivl	T	C	3: 92,572,771		probably benign	Het
Klhl8	G	A	5: 103,867,948	T434M	probably benign	Het
Lct	A	T	1: 128,287,569	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,912,184	Y132F	probably damaging	Het
M6pr	T	C	6: 122,316,070	V203A	possibly damaging	Het
Map9	T	C	3: 82,377,169		probably null	Het
Muc5ac	A	T	7: 141,807,155	D1401V	probably damaging	Het
Myh7	A	G	14: 54,990,329	S291P	probably damaging	Het
Nynrin	G	C	14: 55,870,246	V937L	probably benign	Het
Olfr1032	T	G	2: 86,007,805	F10V	probably damaging	Het
Olfr1174-ps	C	T	2: 88,311,481	G105D	probably benign	Het
Pank2	A	G	2: 131,293,400	N386S	probably benign	Het
Phkg2	G	T	7: 127,582,356	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,520,208	V1772I	probably benign	Het
Plch2	G	T	4: 154,984,395	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,642,453	I77N	probably damaging	Het
Ptprb	A	G	10: 116,341,031	T954A	probably benign	Het
Ranbp3	T	C	17: 56,708,273	V325A	probably damaging	Het
Rgs10	A	T	7: 128,418,069	S16T	probably benign	Het
Scaper	A	T	9: 55,864,438	V398E	probably benign	Het
Selenot	A	G	3: 58,585,277	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,255,109	C173S	probably benign	Het
Slc13a3	G	T	2: 165,434,079	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,803,290	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,464,799	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,137,914	L256R	probably damaging	Het
Top2a	C	T	11: 99,014,741	V337I	probably benign	Het
Unc13a	A	C	8: 71,645,761	F1127V	possibly damaging	Het
Wdr25	C	T	12: 109,026,467	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,780,518	L526R	probably damaging	Het
Zcchc11	T	C	4: 108,530,942	L1160P	probably damaging	Het
Zeb1	C	A	18: 5,705,127	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,065,786	S1580R	probably benign	Het
Zfhx3	A	G	8: 108,856,917	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,480,067	V1038L	probably benign	Het
Zfp759	T	A	13: 67,138,883	V166E	probably benign	Het
Zfp985	A	T	4: 147,583,426	K250N	possibly damaging	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128483473	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	128059052	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128369130	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128414288	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128414301	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128563305	nonsense	probably null
IGL01670:Csmd2	APN	4	128513371	splice site	probably benign
IGL01707:Csmd2	APN	4	128383005	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128480845	splice site	probably benign
IGL01837:Csmd2	APN	4	128419570	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128559947	missense	unknown
IGL02013:Csmd2	APN	4	128321323	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128559879	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128477470	splice site	probably benign
IGL02303:Csmd2	APN	4	128369008	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128463727	splice site	probably benign
IGL02322:Csmd2	APN	4	128463727	splice site	probably benign
IGL02338:Csmd2	APN	4	128395066	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128513372	splice site	probably benign
IGL02428:Csmd2	APN	4	128474816	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128534257	missense	probably benign
IGL02701:Csmd2	APN	4	128496141	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128552075	splice site	probably null
IGL02818:Csmd2	APN	4	128209728	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128521884	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128321335	nonsense	probably null
IGL02977:Csmd2	APN	4	128493276	nonsense	probably null
IGL03006:Csmd2	APN	4	128480765	splice site	probably benign
IGL03032:Csmd2	APN	4	128519041	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128384269	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128414299	nonsense	probably null
IGL03245:Csmd2	APN	4	128509122	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128517671	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128296429	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128544743	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128496029	missense	probably damaging	1.00
R0157:Csmd2	UTSW	4	128521911	missense	probably benign	0.02
R0390:Csmd2	UTSW	4	128133673	intron	probably benign
R0441:Csmd2	UTSW	4	128520230	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128487005	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128113676	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128414297	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128496188	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128522014	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128487001	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128483395	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128496195	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128414392	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128557718	missense	unknown
R2870:Csmd2	UTSW	4	128557718	missense	unknown
R2871:Csmd2	UTSW	4	128557718	missense	unknown
R2871:Csmd2	UTSW	4	128557718	missense	unknown
R2872:Csmd2	UTSW	4	128557718	missense	unknown
R2872:Csmd2	UTSW	4	128557718	missense	unknown
R2873:Csmd2	UTSW	4	128557718	missense	unknown
R2893:Csmd2	UTSW	4	128538993	splice site	probably null
R3796:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128321324	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128510924	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128381945	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128480095	splice site	probably null
R4581:Csmd2	UTSW	4	128369088	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127988128	missense	probably benign	0.35
R4649:Csmd2	UTSW	4	128546073	missense	probably benign
R4706:Csmd2	UTSW	4	128544751	missense	probably benign
R4776:Csmd2	UTSW	4	128442892	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128517749	missense	probably benign
R4900:Csmd2	UTSW	4	128452525	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128521930	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128321348	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	128059108	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128552035	missense	probably benign	0.27
R5172:Csmd2	UTSW	4	128477397	missense	probably benign	0.10
R5231:Csmd2	UTSW	4	128546049	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128456914	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128486884	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128486884	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128548819	missense	probably benign
R5551:Csmd2	UTSW	4	128510948	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128462889	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128519199	splice site	probably null
R5907:Csmd2	UTSW	4	128197385	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128551988	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128546151	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	128059034	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128559946	missense	unknown
R6075:Csmd2	UTSW	4	128486865	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128493334	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128400379	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128483452	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128521950	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127988100	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128394964	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128372597	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128563371	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128463813	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128197225	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128383950	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128509159	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128463794	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128442840	missense	probably benign
R6882:Csmd2	UTSW	4	128449269	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128369063	missense
R7028:Csmd2	UTSW	4	128277228	missense
R7096:Csmd2	UTSW	4	128462726	missense
R7122:Csmd2	UTSW	4	128449227	missense
R7125:Csmd2	UTSW	4	128496162	missense
R7197:Csmd2	UTSW	4	128511033	missense
R7234:Csmd2	UTSW	4	128456779	missense
R7299:Csmd2	UTSW	4	128528262	missense
R7301:Csmd2	UTSW	4	128528262	missense
R7319:Csmd2	UTSW	4	128393679	missense
R7331:Csmd2	UTSW	4	128564228	splice site	probably null
R7332:Csmd2	UTSW	4	128419567	missense
R7352:Csmd2	UTSW	4	128557636	missense
R7402:Csmd2	UTSW	4	128322095	missense
R7402:Csmd2	UTSW	4	128322096	missense
R7474:Csmd2	UTSW	4	128546127	missense
R7555:Csmd2	UTSW	4	128452458	missense
R7592:Csmd2	UTSW	4	128463798	missense
R7700:Csmd2	UTSW	4	128545756	splice site	probably null
R7714:Csmd2	UTSW	4	128382950	nonsense	probably null
R7734:Csmd2	UTSW	4	128552057	missense
R7735:Csmd2	UTSW	4	128456930	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128483456	missense
R7805:Csmd2	UTSW	4	128419573	missense
R7823:Csmd2	UTSW	4	128209905	missense
R7904:Csmd2	UTSW	4	128419553	missense
R7946:Csmd2	UTSW	4	128520265	missense
R7964:Csmd2	UTSW	4	128523510	missense
R7968:Csmd2	UTSW	4	128197325	missense
R8003:Csmd2	UTSW	4	128539187	nonsense	probably null
R8071:Csmd2	UTSW	4	128393538	missense
R8511:Csmd2	UTSW	4	128368899	missense
R8517:Csmd2	UTSW	4	128552686	missense
R8704:Csmd2	UTSW	4	128197354	missense
R8722:Csmd2	UTSW	4	128551950	unclassified	probably benign
R8729:Csmd2	UTSW	4	128462845	missense
R8801:Csmd2	UTSW	4	128563402	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128546684	missense
R8839:Csmd2	UTSW	4	128442888	missense
R8867:Csmd2	UTSW	4	128557676	missense
R8913:Csmd2	UTSW	4	128523558	missense
R8928:Csmd2	UTSW	4	128475789	missense
R8974:Csmd2	UTSW	4	128552587	missense
R9001:Csmd2	UTSW	4	128414286	missense
R9132:Csmd2	UTSW	4	128549214	missense
R9245:Csmd2	UTSW	4	128306375	missense
R9249:Csmd2	UTSW	4	128419530	nonsense	probably null
R9254:Csmd2	UTSW	4	128197319	missense
R9265:Csmd2	UTSW	4	128400370	missense
R9407:Csmd2	UTSW	4	128548820	missense
R9432:Csmd2	UTSW	4	128277211	missense
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- TAACGGGGCTTGTTTCCTCAG -3'
(R):5'- ACTCTCATGGCGTCTTGAGAAATAG -3'

Sequencing Primer
(F):5'- TCAGGGCAGCCTCAGAACTC -3'
(R):5'- CGTCTTGAGAAATAGCTCTGCTTCAG -3'

Posted On

2020-10-20