Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Csmd2'

546113

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

045129-MU

Accession Numbers

Essential gene?

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

Stock #

R7028 (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 G at 128277228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 338 (N338S)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,265,675 (GRCm38)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,805,441 (GRCm38)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,909,793 (GRCm38)	Y355*	probably null	Het
Akp3	A	G	1: 87,126,778 (GRCm38)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,683,334 (GRCm38)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,531,374 (GRCm38)		probably null	Het
Asxl1	T	C	2: 153,400,107 (GRCm38)	L859P	probably benign	Het
Atat1	A	G	17: 35,910,005 (GRCm38)	F11L	probably benign	Het
Bach1	G	A	16: 87,719,291 (GRCm38)	R240Q	probably benign	Het
Ccdc7a	A	T	8: 128,881,594 (GRCm38)	H943Q	unknown	Het
Cep135	A	G	5: 76,616,848 (GRCm38)	T558A	probably benign	Het
Cfap99	A	G	5: 34,301,519 (GRCm38)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,831,063 (GRCm38)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470 (GRCm38)		probably benign	Het
Col17a1	G	A	19: 47,652,183 (GRCm38)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,963,263 (GRCm38)	Q1294*	probably null	Het
Coq8b	T	A	7: 27,239,868 (GRCm38)	C148S	probably damaging	Het
Cspg5	T	A	9: 110,246,891 (GRCm38)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,639,897 (GRCm38)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,195,517 (GRCm38)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,628,251 (GRCm38)	I469V	probably benign	Het
Fam135b	T	C	15: 71,471,563 (GRCm38)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,064,737 (GRCm38)	G453*	probably null	Het
Gclc	C	A	9: 77,788,216 (GRCm38)	A440D	probably damaging	Het
Glyat	T	C	19: 12,650,359 (GRCm38)	I106T	probably benign	Het
Gm12185	T	C	11: 48,908,244 (GRCm38)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,693,037 (GRCm38)	H117R		Het
Gm884	C	T	11: 103,614,537 (GRCm38)	A26T	probably benign	Het
Ildr2	A	G	1: 166,303,529 (GRCm38)	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,178 (GRCm38)		probably benign	Het
Kif19a	C	T	11: 114,781,208 (GRCm38)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,586,906 (GRCm38)	G401*	probably null	Het
Lactbl1	T	A	4: 136,632,975 (GRCm38)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,246,011 (GRCm38)	D1649V	probably benign	Het
Map2k1	A	G	9: 64,193,823 (GRCm38)	V191A	probably benign	Het
Mdm4	A	T	1: 133,003,809 (GRCm38)	C165S	probably benign	Het
Med27	G	A	2: 29,509,434 (GRCm38)	W92*	probably null	Het
Muc20	A	T	16: 32,794,246 (GRCm38)	S254T	probably benign	Het
Myh1	A	G	11: 67,220,421 (GRCm38)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,328,572 (GRCm38)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,102,387 (GRCm38)	N543K	probably damaging	Het
Nup214	T	A	2: 32,034,156 (GRCm38)	S1566T	probably benign	Het
Nxnl1	T	G	8: 71,562,793 (GRCm38)	E157A	possibly damaging	Het
Obscn	A	G	11: 59,079,133 (GRCm38)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,329,276 (GRCm38)	I145F	probably damaging	Het
Olfr1359	A	G	13: 21,703,270 (GRCm38)	K90E	possibly damaging	Het
Olfr453	G	A	6: 42,744,403 (GRCm38)	R122H	probably benign	Het
Olfr572	T	C	7: 102,927,942 (GRCm38)	F105L	probably damaging	Het
Olfr976	T	C	9: 39,956,345 (GRCm38)	T197A	probably benign	Het
Pclo	A	G	5: 14,713,447 (GRCm38)	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,170,195 (GRCm38)	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,458,393 (GRCm38)	K632E	probably damaging	Het
Plg	A	T	17: 12,391,836 (GRCm38)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,131,497 (GRCm38)	N306K	probably damaging	Het
Pspn	A	G	17: 56,999,978 (GRCm38)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,758,059 (GRCm38)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 78,506,657 (GRCm38)	T19K	probably damaging	Het
Rora	G	A	9: 69,196,083 (GRCm38)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,940,839 (GRCm38)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,036,063 (GRCm38)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,802,687 (GRCm38)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm38)	V277L	probably benign	Het
Trhde	A	G	10: 114,518,177 (GRCm38)	M537T	probably damaging	Het
Ttc30a2	A	T	2: 75,976,269 (GRCm38)	L633*	probably null	Het
Tubb6	G	A	18: 67,401,911 (GRCm38)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,738,754 (GRCm38)	L196Q	probably damaging	Het
Ubn1	A	T	16: 5,055,324 (GRCm38)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,314,980 (GRCm38)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm38)	A782V	possibly damaging	Het
Xdh	G	T	17: 73,943,873 (GRCm38)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,597,051 (GRCm38)	S691P	probably benign	Het
Zfat	A	C	15: 68,180,452 (GRCm38)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,948,305 (GRCm38)	V370G	probably damaging	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
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

PCR Primer
(F):5'- GATAGATGGTGCTCTCCTCTTG -3'
(R):5'- TAGTGTCTGAGAACTGCCCC -3'

Sequencing Primer
(F):5'- CCTCTTGCTTCAGAAGGTGCATAAAC -3'
(R):5'- TGCCCCTCTGGTACCTAAAGG -3'

Posted On

2019-05-13