Mutagenetix > Incidental Mutation

Incidental Mutation 'R2873:Csmd2'

477067

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

040461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128557718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 113 (F113S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000184063]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139561

Predicted Effect

unknown
Transcript: ENSMUST00000184063
AA Change: F3423S

Predicted Effect

unknown
Transcript: ENSMUST00000221199
AA Change: F113S

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176 (GRCm38)	C811R	possibly damaging	Het
Acvr1	G	A	2: 58,477,796 (GRCm38)	Q118*	probably null	Het
AI481877	A	C	4: 59,093,850 (GRCm38)	L226R	probably damaging	Het
Als2	A	G	1: 59,211,137 (GRCm38)	S483P	probably damaging	Het
Ankrd40	T	C	11: 94,333,945 (GRCm38)	V60A	possibly damaging	Het
Armc2	C	T	10: 41,966,700 (GRCm38)		probably null	Het
Atp12a	A	G	14: 56,386,950 (GRCm38)	R952G	possibly damaging	Het
Atp13a2	T	C	4: 141,002,983 (GRCm38)	I773T	probably benign	Het
Atp6v1g1	A	G	4: 63,550,021 (GRCm38)	Y87C	probably benign	Het
Ccdc162	G	T	10: 41,655,099 (GRCm38)	T537N	possibly damaging	Het
Ccdc59	A	T	10: 105,841,527 (GRCm38)	K9M	possibly damaging	Het
Cd101	A	T	3: 101,003,848 (GRCm38)	D831E	probably benign	Het
Ch25h	T	A	19: 34,474,810 (GRCm38)	H106L	probably benign	Het
Chek2	C	A	5: 110,863,336 (GRCm38)	Y333*	probably null	Het
Cyp4a14	C	A	4: 115,487,301 (GRCm38)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362 (GRCm38)	H260R	possibly damaging	Het
Eif4enif1	C	T	11: 3,242,586 (GRCm38)	P805S	probably damaging	Het
Fam19a2	A	T	10: 123,704,365 (GRCm38)	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190 (GRCm38)	I668T	probably benign	Het
Flnc	A	G	6: 29,447,543 (GRCm38)	D1115G	probably damaging	Het
Gbp11	C	T	5: 105,331,000 (GRCm38)	D191N	probably benign	Het
Gm5519	A	C	19: 33,825,010 (GRCm38)	D151A	possibly damaging	Het
Gm813	A	T	16: 58,613,979 (GRCm38)	I125K	probably benign	Het
Grid2ip	C	A	5: 143,357,929 (GRCm38)	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006 (GRCm38)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,738,716 (GRCm38)	V1313D	possibly damaging	Het
Kpna7	T	C	5: 144,993,935 (GRCm38)	T367A	probably benign	Het
Matr3	T	A	18: 35,572,296 (GRCm38)	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942 (GRCm38)	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667 (GRCm38)	M878V	probably benign	Het
Mtor	T	A	4: 148,540,030 (GRCm38)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337 (GRCm38)	R721Q	probably benign	Het
Ndufs1	A	G	1: 63,164,723 (GRCm38)		probably benign	Het
Nlrp4b	C	T	7: 10,710,243 (GRCm38)	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937 (GRCm38)	T293N	probably damaging	Het
Notch1	A	G	2: 26,460,235 (GRCm38)	C2298R	possibly damaging	Het
Notum	A	G	11: 120,660,196 (GRCm38)	V48A	probably benign	Het
Odf3l2	G	A	10: 79,645,653 (GRCm38)	T14I	probably benign	Het
Olfr1510	T	G	14: 52,410,861 (GRCm38)	T4P	probably benign	Het
Olfr419	T	C	1: 174,250,526 (GRCm38)	S134G	probably benign	Het
Olfr801	A	T	10: 129,669,759 (GRCm38)	C253*	probably null	Het
Ostc	T	C	3: 130,703,508 (GRCm38)	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751 (GRCm38)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665 (GRCm38)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471 (GRCm38)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834 (GRCm38)	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150 (GRCm38)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503 (GRCm38)	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678 (GRCm38)	M1T	probably null	Het
Pms2	G	A	5: 143,911,914 (GRCm38)		probably benign	Het
Ppp1r7	T	A	1: 93,357,863 (GRCm38)		probably null	Het
Psmb8	T	C	17: 34,200,170 (GRCm38)	I146T	probably damaging	Het
Ptger4	T	C	15: 5,234,805 (GRCm38)	R457G	probably benign	Het
Pzp	A	T	6: 128,485,556 (GRCm38)		probably null	Het
Ralgds	A	G	2: 28,548,769 (GRCm38)		probably null	Het
Rnf6	T	C	5: 146,210,405 (GRCm38)	Y601C	probably benign	Het
Sgk2	A	G	2: 162,994,529 (GRCm38)		probably benign	Het
Slc39a8	T	A	3: 135,886,793 (GRCm38)		probably null	Het
Slc4a4	G	T	5: 89,135,764 (GRCm38)	V481L	probably damaging	Het
Slc5a8	A	G	10: 88,904,963 (GRCm38)	I247V	probably benign	Het
Slit3	G	T	11: 35,544,793 (GRCm38)	E184*	probably null	Het
Sppl2c	C	T	11: 104,187,315 (GRCm38)	P314S	probably benign	Het
St5	A	T	7: 109,557,430 (GRCm38)	Y38N	probably benign	Het
St7	C	T	6: 17,819,277 (GRCm38)	P60L	probably damaging	Het
Tbc1d8	A	G	1: 39,405,317 (GRCm38)	F187S	probably damaging	Het
Tet2	C	T	3: 133,486,954 (GRCm38)	G573E	probably damaging	Het
Tnni3k	C	T	3: 154,938,750 (GRCm38)		probably null	Het
Trpa1	A	G	1: 14,887,620 (GRCm38)	C705R	probably damaging	Het
Usp9y	T	A	Y: 1,310,502 (GRCm38)		probably benign	Het
Vmn2r68	A	C	7: 85,233,626 (GRCm38)	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242 (GRCm38)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413 (GRCm38)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078 (GRCm38)	E124D	probably benign	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128,483,473 (GRCm38)	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	128,059,052 (GRCm38)	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128,369,130 (GRCm38)	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128,414,288 (GRCm38)	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128,414,301 (GRCm38)	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128,563,305 (GRCm38)	nonsense	probably null
IGL01670:Csmd2	APN	4	128,513,371 (GRCm38)	splice site	probably benign
IGL01707:Csmd2	APN	4	128,383,005 (GRCm38)	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128,480,845 (GRCm38)	splice site	probably benign
IGL01837:Csmd2	APN	4	128,419,570 (GRCm38)	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128,559,947 (GRCm38)	missense	unknown
IGL02013:Csmd2	APN	4	128,321,323 (GRCm38)	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128,559,879 (GRCm38)	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128,477,470 (GRCm38)	splice site	probably benign
IGL02303:Csmd2	APN	4	128,369,008 (GRCm38)	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128,463,727 (GRCm38)	splice site	probably benign
IGL02322:Csmd2	APN	4	128,463,727 (GRCm38)	splice site	probably benign
IGL02338:Csmd2	APN	4	128,395,066 (GRCm38)	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128,513,372 (GRCm38)	splice site	probably benign
IGL02428:Csmd2	APN	4	128,474,816 (GRCm38)	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128,534,257 (GRCm38)	missense	probably benign
IGL02701:Csmd2	APN	4	128,496,141 (GRCm38)	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128,552,075 (GRCm38)	splice site	probably null
IGL02818:Csmd2	APN	4	128,209,728 (GRCm38)	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128,521,884 (GRCm38)	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128,321,335 (GRCm38)	nonsense	probably null
IGL02977:Csmd2	APN	4	128,493,276 (GRCm38)	nonsense	probably null
IGL03006:Csmd2	APN	4	128,480,765 (GRCm38)	splice site	probably benign
IGL03032:Csmd2	APN	4	128,519,041 (GRCm38)	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128,384,269 (GRCm38)	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128,414,299 (GRCm38)	nonsense	probably null
IGL03245:Csmd2	APN	4	128,509,122 (GRCm38)	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128,517,671 (GRCm38)	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128,296,429 (GRCm38)	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128,544,743 (GRCm38)	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128,496,029 (GRCm38)	missense	probably damaging	1.00
R0157:Csmd2	UTSW	4	128,521,911 (GRCm38)	missense	probably benign	0.02
R0390:Csmd2	UTSW	4	128,133,673 (GRCm38)	intron	probably benign
R0441:Csmd2	UTSW	4	128,520,230 (GRCm38)	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128,487,005 (GRCm38)	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128,113,676 (GRCm38)	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128,414,297 (GRCm38)	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128,496,188 (GRCm38)	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128,522,014 (GRCm38)	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128,487,001 (GRCm38)	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128,483,395 (GRCm38)	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128,496,195 (GRCm38)	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128,414,392 (GRCm38)	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2870:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2871:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2871:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2872:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2872:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2893:Csmd2	UTSW	4	128,538,993 (GRCm38)	splice site	probably null
R3796:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128,321,324 (GRCm38)	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128,510,924 (GRCm38)	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128,381,945 (GRCm38)	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128,480,095 (GRCm38)	splice site	probably null
R4581:Csmd2	UTSW	4	128,369,088 (GRCm38)	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127,988,128 (GRCm38)	missense	probably benign	0.35
R4649:Csmd2	UTSW	4	128,546,073 (GRCm38)	missense	probably benign
R4706:Csmd2	UTSW	4	128,544,751 (GRCm38)	missense	probably benign
R4776:Csmd2	UTSW	4	128,442,892 (GRCm38)	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128,517,749 (GRCm38)	missense	probably benign
R4900:Csmd2	UTSW	4	128,452,525 (GRCm38)	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128,521,930 (GRCm38)	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128,321,348 (GRCm38)	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	128,059,108 (GRCm38)	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128,552,035 (GRCm38)	missense	probably benign	0.27
R5172:Csmd2	UTSW	4	128,477,397 (GRCm38)	missense	probably benign	0.10
R5231:Csmd2	UTSW	4	128,546,049 (GRCm38)	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128,456,914 (GRCm38)	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128,486,884 (GRCm38)	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128,486,884 (GRCm38)	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128,548,819 (GRCm38)	missense	probably benign
R5551:Csmd2	UTSW	4	128,510,948 (GRCm38)	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128,462,889 (GRCm38)	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128,519,199 (GRCm38)	splice site	probably null
R5907:Csmd2	UTSW	4	128,197,385 (GRCm38)	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128,551,988 (GRCm38)	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128,546,151 (GRCm38)	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	128,059,034 (GRCm38)	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128,559,946 (GRCm38)	missense	unknown
R6075:Csmd2	UTSW	4	128,486,865 (GRCm38)	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128,493,334 (GRCm38)	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128,400,379 (GRCm38)	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128,483,452 (GRCm38)	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128,521,950 (GRCm38)	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127,988,100 (GRCm38)	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128,394,964 (GRCm38)	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128,372,597 (GRCm38)	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128,563,371 (GRCm38)	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128,463,813 (GRCm38)	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128,197,225 (GRCm38)	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128,383,950 (GRCm38)	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128,509,159 (GRCm38)	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128,463,794 (GRCm38)	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128,442,840 (GRCm38)	missense	probably benign
R6882:Csmd2	UTSW	4	128,449,269 (GRCm38)	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128,369,063 (GRCm38)	missense
R7028:Csmd2	UTSW	4	128,277,228 (GRCm38)	missense
R7096:Csmd2	UTSW	4	128,462,726 (GRCm38)	missense
R7122:Csmd2	UTSW	4	128,449,227 (GRCm38)	missense
R7125:Csmd2	UTSW	4	128,496,162 (GRCm38)	missense
R7197:Csmd2	UTSW	4	128,511,033 (GRCm38)	missense
R7234:Csmd2	UTSW	4	128,456,779 (GRCm38)	missense
R7299:Csmd2	UTSW	4	128,528,262 (GRCm38)	missense
R7301:Csmd2	UTSW	4	128,528,262 (GRCm38)	missense
R7319:Csmd2	UTSW	4	128,393,679 (GRCm38)	missense
R7331:Csmd2	UTSW	4	128,564,228 (GRCm38)	splice site	probably null
R7332:Csmd2	UTSW	4	128,419,567 (GRCm38)	missense
R7352:Csmd2	UTSW	4	128,557,636 (GRCm38)	missense
R7402:Csmd2	UTSW	4	128,322,096 (GRCm38)	missense
R7402:Csmd2	UTSW	4	128,322,095 (GRCm38)	missense
R7474:Csmd2	UTSW	4	128,546,127 (GRCm38)	missense
R7555:Csmd2	UTSW	4	128,452,458 (GRCm38)	missense
R7592:Csmd2	UTSW	4	128,463,798 (GRCm38)	missense
R7700:Csmd2	UTSW	4	128,545,756 (GRCm38)	splice site	probably null
R7714:Csmd2	UTSW	4	128,382,950 (GRCm38)	nonsense	probably null
R7734:Csmd2	UTSW	4	128,552,057 (GRCm38)	missense
R7735:Csmd2	UTSW	4	128,456,930 (GRCm38)	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128,483,456 (GRCm38)	missense
R7805:Csmd2	UTSW	4	128,419,573 (GRCm38)	missense
R7823:Csmd2	UTSW	4	128,209,905 (GRCm38)	missense
R7904:Csmd2	UTSW	4	128,419,553 (GRCm38)	missense
R7946:Csmd2	UTSW	4	128,520,265 (GRCm38)	missense
R7964:Csmd2	UTSW	4	128,523,510 (GRCm38)	missense
R7968:Csmd2	UTSW	4	128,197,325 (GRCm38)	missense
R8003:Csmd2	UTSW	4	128,539,187 (GRCm38)	nonsense	probably null
R8071:Csmd2	UTSW	4	128,393,538 (GRCm38)	missense
R8504:Csmd2	UTSW	4	128,546,690 (GRCm38)	missense
R8511:Csmd2	UTSW	4	128,368,899 (GRCm38)	missense
R8517:Csmd2	UTSW	4	128,552,686 (GRCm38)	missense
R8704:Csmd2	UTSW	4	128,197,354 (GRCm38)	missense
R8722:Csmd2	UTSW	4	128,551,950 (GRCm38)	unclassified	probably benign
R8729:Csmd2	UTSW	4	128,462,845 (GRCm38)	missense
R8801:Csmd2	UTSW	4	128,563,402 (GRCm38)	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128,546,684 (GRCm38)	missense
R8839:Csmd2	UTSW	4	128,442,888 (GRCm38)	missense
R8867:Csmd2	UTSW	4	128,557,676 (GRCm38)	missense
R8913:Csmd2	UTSW	4	128,523,558 (GRCm38)	missense
R8928:Csmd2	UTSW	4	128,475,789 (GRCm38)	missense
R8974:Csmd2	UTSW	4	128,552,587 (GRCm38)	missense
R9001:Csmd2	UTSW	4	128,414,286 (GRCm38)	missense
R9132:Csmd2	UTSW	4	128,549,214 (GRCm38)	missense
R9245:Csmd2	UTSW	4	128,306,375 (GRCm38)	missense
R9249:Csmd2	UTSW	4	128,419,530 (GRCm38)	nonsense	probably null
R9254:Csmd2	UTSW	4	128,197,319 (GRCm38)	missense
R9265:Csmd2	UTSW	4	128,400,370 (GRCm38)	missense
R9407:Csmd2	UTSW	4	128,548,820 (GRCm38)	missense
R9432:Csmd2	UTSW	4	128,277,211 (GRCm38)	missense
R9559:Csmd2	UTSW	4	128,544,768 (GRCm38)	missense
R9673:Csmd2	UTSW	4	128,414,269 (GRCm38)	missense
R9735:Csmd2	UTSW	4	128,509,108 (GRCm38)	missense
R9749:Csmd2	UTSW	4	128,496,128 (GRCm38)	missense
R9803:Csmd2	UTSW	4	128,369,193 (GRCm38)	missense
Z1177:Csmd2	UTSW	4	128,530,797 (GRCm38)	missense

Predicted Primers

Posted On

2017-05-15