Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Csmd2'

550472

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128462726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1608 (S1608L)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,933,870 (GRCm38)	M383R	probably damaging	Het
Acd	T	A	8: 105,698,489 (GRCm38)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,428,189 (GRCm38)		probably null	Het
Alg10b	C	T	15: 90,227,361 (GRCm38)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,591,832 (GRCm38)	K440*	probably null	Het
Apc	T	A	18: 34,315,957 (GRCm38)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,184,028 (GRCm38)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,481,443 (GRCm38)	A83V	probably benign	Het
Bach1	G	A	16: 87,719,291 (GRCm38)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,909,714 (GRCm38)	I300L	probably benign	Het
Brd1	C	A	15: 88,713,935 (GRCm38)	R536L	probably damaging	Het
Brms1	T	A	19: 5,046,680 (GRCm38)	I130N	probably damaging	Het
Ccdc68	A	G	18: 69,940,170 (GRCm38)	H63R	probably damaging	Het
Ccl28	A	G	13: 119,650,893 (GRCm38)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,987,495 (GRCm38)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,033,184 (GRCm38)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,661,358 (GRCm38)	R133Q	probably benign	Het
Coq2	A	G	5: 100,663,720 (GRCm38)		probably benign	Het
Coq6	T	C	12: 84,361,821 (GRCm38)		probably null	Het
Cyp11b2	T	A	15: 74,855,988 (GRCm38)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,405,261 (GRCm38)	T217A	probably benign	Het
Dclk2	C	T	3: 86,793,259 (GRCm38)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,483,440 (GRCm38)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,657,078 (GRCm38)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,715,425 (GRCm38)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,605,106 (GRCm38)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,474,191 (GRCm38)	A455S	probably benign	Het
Gpat2	A	G	2: 127,428,289 (GRCm38)	N74S	probably benign	Het
Gstk1	C	A	6: 42,249,473 (GRCm38)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,696,559 (GRCm38)		probably null	Het
Gucy2c	T	C	6: 136,728,341 (GRCm38)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,937,038 (GRCm38)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 119,566,325 (GRCm38)	A124S	possibly damaging	Het
Il11	T	C	7: 4,775,996 (GRCm38)	Y45C	probably damaging	Het
Lcat	C	T	8: 105,939,677 (GRCm38)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,501,373 (GRCm38)	F72L	probably benign	Het
Map10	T	C	8: 125,671,923 (GRCm38)	L685P	probably damaging	Het
Me2	A	G	18: 73,794,890 (GRCm38)	V174A	probably benign	Het
Med13l	C	A	5: 118,721,926 (GRCm38)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,947,775 (GRCm38)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,891,769 (GRCm38)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,891,498 (GRCm38)		probably null	Het
Myof	C	A	19: 37,936,200 (GRCm38)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,825,690 (GRCm38)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,589,637 (GRCm38)	M34L	probably benign	Het
Or5p61	C	A	7: 108,159,641 (GRCm38)	M77I	probably benign	Het
Or6c38	T	C	10: 129,093,846 (GRCm38)	I43V	probably damaging	Het
Padi3	T	C	4: 140,800,124 (GRCm38)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,672,615 (GRCm38)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,397,503 (GRCm38)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,129,261 (GRCm38)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,736,816 (GRCm38)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,734,113 (GRCm38)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,154,867 (GRCm38)	R597Q	probably benign	Het
Poteg	C	A	8: 27,473,567 (GRCm38)	A344E	probably benign	Het
Rad21l	A	G	2: 151,667,920 (GRCm38)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,474,896 (GRCm38)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,392,231 (GRCm38)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,774,269 (GRCm38)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,189,225 (GRCm38)	V114A	probably benign	Het
Skic2	T	A	17: 34,841,470 (GRCm38)	H849L	probably benign	Het
Snai2	A	G	16: 14,707,164 (GRCm38)	H178R	possibly damaging	Het
Stip1	C	T	19: 7,021,810 (GRCm38)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,920,911 (GRCm38)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,487,589 (GRCm38)	D625E		Het
Tlr6	A	G	5: 64,953,776 (GRCm38)	V596A	probably benign	Het
Trak2	T	G	1: 58,903,590 (GRCm38)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,840,614 (GRCm38)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,035,026 (GRCm38)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,462,500 (GRCm38)	L814S	probably damaging	Het
Zbbx	T	C	3: 75,081,737 (GRCm38)	D353G	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
R2873: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
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

PCR Primer
(F):5'- TCCTGAAGGCCACTCTCAAC -3'
(R):5'- GTATCCCTTGGCCCTTGAAC -3'

Sequencing Primer
(F):5'- TGAAGGCCACTCTCAACTTCAG -3'
(R):5'- AGGGTCCTGGCTATTCTCAC -3'

Posted On

2019-05-15