Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Csmd2'

675995

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

068682-MU

Accession Numbers

Essential gene?

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

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128557676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 3409 (Y3409C)

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: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,942,850 (GRCm38)	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 193,175,098 (GRCm38)	S253P	probably damaging	Het
Acbd5	T	C	2: 23,080,358 (GRCm38)	M97T	possibly damaging	Het
Aire	T	C	10: 78,037,975 (GRCm38)	E300G	probably damaging	Het
Ano1	A	G	7: 144,669,660 (GRCm38)	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,477,256 (GRCm38)	N732D	probably benign	Het
Apcs	A	T	1: 172,894,437 (GRCm38)	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,589,966 (GRCm38)		probably benign	Het
Asxl3	C	A	18: 22,516,490 (GRCm38)	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,244,924 (GRCm38)	T388A	probably damaging	Het
Bcl2a1a	A	T	9: 88,957,450 (GRCm38)	I134L	probably damaging	Het
Chd6	G	A	2: 161,021,069 (GRCm38)	A444V	probably benign	Het
Cmbl	C	A	15: 31,581,927 (GRCm38)	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,762,557 (GRCm38)	I262N	probably damaging	Het
Col6a3	C	T	1: 90,787,951 (GRCm38)	R2260H	unknown	Het
Cracr2a	T	A	6: 127,629,773 (GRCm38)	L260*	probably null	Het
Cyp4b1	C	T	4: 115,635,972 (GRCm38)	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,202,283 (GRCm38)	A380V	probably benign	Het
Dnah6	A	G	6: 73,021,148 (GRCm38)	L4097P	probably damaging	Het
Dpcr1	A	T	17: 35,637,980 (GRCm38)	F242L	probably benign	Het
Dppa3	G	A	6: 122,628,643 (GRCm38)	R52Q	probably benign	Het
Fbxo31	C	T	8: 121,555,228 (GRCm38)	R311H	probably benign	Het
Fhad1	T	C	4: 141,929,574 (GRCm38)	R90G	probably damaging	Het
Fitm2	A	T	2: 163,469,682 (GRCm38)	W204R	possibly damaging	Het
Gatb	T	A	3: 85,604,409 (GRCm38)	L157H	probably damaging	Het
Gm34653	A	G	2: 34,838,624 (GRCm38)	D145G	probably damaging	Het
Gm5111	G	A	6: 48,589,695 (GRCm38)		probably null	Het
Gm7298	A	C	6: 121,771,829 (GRCm38)	I688L	probably benign	Het
Hecw1	T	C	13: 14,247,690 (GRCm38)		probably null	Het
Ift122	T	A	6: 115,880,671 (GRCm38)	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,627,499 (GRCm38)	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,968,179 (GRCm38)	V902A	probably damaging	Het
Klhl38	T	C	15: 58,315,039 (GRCm38)	M512V	probably benign	Het
Klk1b1	A	C	7: 43,970,323 (GRCm38)	N102T	probably damaging	Het
Lama4	T	A	10: 39,048,000 (GRCm38)	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,238,166 (GRCm38)	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 158,161,884 (GRCm38)	D740V	probably damaging	Het
Mapk7	G	T	11: 61,493,806 (GRCm38)	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,470,704 (GRCm38)	A217D	probably benign	Het
Ncaph2	A	G	15: 89,370,402 (GRCm38)	E406G	probably benign	Het
Ncor2	T	C	5: 125,102,675 (GRCm38)	I69V	unknown	Het
Nfatc3	A	G	8: 106,079,008 (GRCm38)	S170G	probably damaging	Het
Nptn	G	A	9: 58,618,981 (GRCm38)	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,282,757 (GRCm38)	K1581N	probably damaging	Het
Olfr1105	G	T	2: 87,033,459 (GRCm38)	T254K	probably damaging	Het
Olfr224	A	G	11: 58,566,736 (GRCm38)	L203P	probably damaging	Het
Olfr357	T	C	2: 36,997,679 (GRCm38)	Y290H	probably damaging	Het
Olfr597	T	A	7: 103,321,242 (GRCm38)	L277Q		Het
Olfr630	G	A	7: 103,754,686 (GRCm38)	Q300*	probably null	Het
Olfr801	A	T	10: 129,669,759 (GRCm38)	C253*	probably null	Het
Park2	A	G	17: 11,237,561 (GRCm38)	T91A	probably benign	Het
Pdcl	T	C	2: 37,352,336 (GRCm38)	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,244,417 (GRCm38)	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,573,833 (GRCm38)	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,333,097 (GRCm38)	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,546,449 (GRCm38)		probably benign	Het
Rgs18	T	A	1: 144,753,960 (GRCm38)	D187V	probably damaging	Het
Ripor2	C	T	13: 24,638,777 (GRCm38)		probably benign	Het
Rnf165	T	C	18: 77,475,486 (GRCm38)	E159G	possibly damaging	Het
Rpl3l	G	A	17: 24,735,481 (GRCm38)	G172D	probably damaging	Het
Sdf4	A	G	4: 156,009,302 (GRCm38)	T298A	probably damaging	Het
Slc17a3	T	C	13: 23,855,960 (GRCm38)	V327A		Het
Slc4a1ap	T	A	5: 31,550,715 (GRCm38)	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256 (GRCm38)	V324A	probably benign	Het
Syne2	A	G	12: 75,942,846 (GRCm38)	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,627,055 (GRCm38)	N481D	possibly damaging	Het
Tert	T	C	13: 73,628,447 (GRCm38)	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,687 (GRCm38)	D1181E		Het
Tln2	G	A	9: 67,330,550 (GRCm38)	T33I	probably damaging	Het
Top3a	A	G	11: 60,742,655 (GRCm38)	S872P	probably benign	Het
Trim10	T	C	17: 36,870,156 (GRCm38)	L93P	probably benign	Het
Trpc7	C	T	13: 56,860,933 (GRCm38)	S307N	probably benign	Het
Ttc37	C	T	13: 76,131,309 (GRCm38)	S620L	probably damaging	Het
Ttn	A	T	2: 76,810,083 (GRCm38)	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,184,101 (GRCm38)	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,553,667 (GRCm38)	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480 (GRCm38)	R166Q	probably benign	Het
Zfp683	C	T	4: 134,058,684 (GRCm38)	T374I	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
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
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'- CACCAGAGTGCCTTACCATC -3'
(R):5'- TGGGCCAGATGAGTAGACAC -3'

Sequencing Primer
(F):5'- GAGTGCCTTACCATCACCCC -3'
(R):5'- TCATCCCAGCTGAAGTGTGTGAC -3'

Posted On

2021-07-15