Mutagenetix > Incidental Mutations

Incidental Mutation 'R5913:Csmd2'

461103

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

044110-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R5913 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128551988 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 3284 (K3284E)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139561

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: K3284E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000221199

Meta Mutation Damage Score

0.1763

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,889,705		probably null	Het
Arhgef19	A	T	4: 141,249,298	H457L	probably benign	Het
Armc3	A	G	2: 19,310,047	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,051,104	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,665,193	M366R	possibly damaging	Het
Bora	C	T	14: 99,068,512	S439L	probably benign	Het
Cacnb4	G	A	2: 52,434,784		probably benign	Het
Carm1	T	C	9: 21,587,552	S529P	probably benign	Het
Cd200r1	A	G	16: 44,789,671	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,748,742	S22P	probably benign	Het
Celf2	A	T	2: 7,081,158	M1K	probably null	Het
Cep112	A	G	11: 108,757,688	T783A	probably damaging	Het
Cep95	T	C	11: 106,818,509		probably benign	Het
Clip4	G	A	17: 71,824,765	R366K	probably benign	Het
Csn3	T	A	5: 87,927,611	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,988,865	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,402,246	W55*	probably null	Het
Cyp2u1	G	A	3: 131,303,211		probably benign	Het
Dmgdh	A	T	13: 93,752,323	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,448,430	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,384,289	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035	W224*	probably null	Het
Gm37240	T	C	3: 84,967,598		probably benign	Het
Gm9573	C	T	17: 35,623,231		probably benign	Het
Gpr3	A	G	4: 133,211,178	V61A	probably damaging	Het
Gulo	T	C	14: 66,000,021		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hectd4	T	A	5: 121,323,974	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,764,868	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,705,269	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,705,270	Q339L	probably damaging	Het
Irf4	T	A	13: 30,757,758	S365T	probably benign	Het
Klrb1a	T	G	6: 128,618,509	D124A	probably damaging	Het
Macf1	A	T	4: 123,476,039	I78N	probably damaging	Het
Mctp1	G	T	13: 76,759,825		probably null	Het
Mxra8	A	T	4: 155,843,303		probably null	Het
Nlrp2	T	A	7: 5,324,903		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
P2ry13	T	C	3: 59,209,365	T331A	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,474,654	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,755,992	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,758,089	R717G	probably benign	Het
Pcif1	C	A	2: 164,884,492		probably benign	Het
Pkd1l1	T	C	11: 8,863,849	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,364,602	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,222,695	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,690,302	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,526,271	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 71,584,263	P381L	probably benign	Het
Slc8a1	T	A	17: 81,648,002	I536F	probably damaging	Het
Src	T	A	2: 157,466,030		probably null	Het
Sybu	T	A	15: 44,787,621	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,351,728	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,628,411	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,819,128	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,006,988	L49Q	probably damaging	Het
Trem2	T	A	17: 48,346,633		probably benign	Het
Tspyl3	T	A	2: 153,224,716	M201L	probably benign	Het
Ttl	A	G	2: 129,076,041	D141G	probably benign	Het
Ube2z	A	G	11: 96,061,063	V153A	possibly damaging	Het
Ubr3	A	G	2: 70,021,215	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,380,592	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Vmo1	A	T	11: 70,514,415	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,800,007	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765	S425R	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
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
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- GCATCCTTTCAGTAGTCCCAAAG -3'
(R):5'- CATCTGTGATGCCCCAAGAG -3'

Sequencing Primer
(F):5'- GGACCAATAGGACTCAGCCAG -3'
(R):5'- GTACTATAGAGAGCCCAACACTGGTC -3'

Posted On

2017-02-28