Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01364:Csmd2'

75866

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01364

Quality Score

Status

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128414288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1280 (T1280A)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144298

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: T1280A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	A	4: 40,181,380 (GRCm38)		probably null	Het
Acot6	T	C	12: 84,101,066 (GRCm38)	V32A	possibly damaging	Het
Aff3	A	T	1: 38,535,681 (GRCm38)	L73I	probably damaging	Het
Aldh1l2	C	A	10: 83,492,667 (GRCm38)	D729Y	probably damaging	Het
Alox15	T	C	11: 70,345,166 (GRCm38)	Q525R	possibly damaging	Het
Atr	T	C	9: 95,865,624 (GRCm38)	Y320H	probably benign	Het
Atxn3	C	T	12: 101,934,423 (GRCm38)		probably benign	Het
Caprin2	C	A	6: 148,873,028 (GRCm38)	S262I	probably benign	Het
Ccar1	T	C	10: 62,776,874 (GRCm38)		probably null	Het
Ccdc14	T	A	16: 34,723,213 (GRCm38)	L647H	probably damaging	Het
Cd300lf	T	C	11: 115,126,350 (GRCm38)	D49G	probably benign	Het
Ddb1	T	C	19: 10,627,660 (GRCm38)		probably null	Het
Dnah9	A	G	11: 66,155,459 (GRCm38)	Y88H	probably damaging	Het
Enpp1	T	C	10: 24,664,614 (GRCm38)	T351A	probably damaging	Het
Evi2b	T	A	11: 79,516,623 (GRCm38)	Y42F	probably benign	Het
Fdps	A	T	3: 89,094,270 (GRCm38)	C274*	probably null	Het
Flnb	A	C	14: 7,934,562 (GRCm38)		probably null	Het
Herc1	T	A	9: 66,399,361 (GRCm38)	V917E	probably benign	Het
Hmcn2	C	T	2: 31,361,814 (GRCm38)	Q854*	probably null	Het
Hmgxb3	T	C	18: 61,146,434 (GRCm38)	Y769C	probably damaging	Het
Hps3	G	T	3: 20,003,305 (GRCm38)	Q772K	possibly damaging	Het
Ifnab	T	C	4: 88,690,750 (GRCm38)	S160G	probably damaging	Het
Kalrn	T	C	16: 34,262,629 (GRCm38)	E652G	probably damaging	Het
Kat6a	T	C	8: 22,907,700 (GRCm38)	L255S	probably damaging	Het
Kbtbd7	T	A	14: 79,428,046 (GRCm38)	D439E	possibly damaging	Het
Kcnn4	T	C	7: 24,381,703 (GRCm38)	F289L	probably benign	Het
Mapk6	A	C	9: 75,388,790 (GRCm38)	D475E	possibly damaging	Het
Msh5	A	G	17: 35,028,769 (GRCm38)	V825A	possibly damaging	Het
Mst1	A	G	9: 108,081,601 (GRCm38)	I111V	probably benign	Het
Myo1h	T	A	5: 114,348,439 (GRCm38)	I586N	probably damaging	Het
Or4k36	G	T	2: 111,315,670 (GRCm38)	A64S	probably damaging	Het
Panx1	C	T	9: 15,021,465 (GRCm38)	V80M	probably damaging	Het
Polr3b	T	A	10: 84,695,669 (GRCm38)	I803N	probably benign	Het
Rasa4	T	C	5: 136,095,571 (GRCm38)	V158A	possibly damaging	Het
Rbp3	T	A	14: 33,954,188 (GRCm38)	M31K	possibly damaging	Het
Rpl3l	A	G	17: 24,732,430 (GRCm38)	K154E	probably benign	Het
Sec24a	A	T	11: 51,713,529 (GRCm38)		probably null	Het
Sox5	C	T	6: 144,116,472 (GRCm38)	M151I	probably damaging	Het
Sun1	T	A	5: 139,234,741 (GRCm38)	L290Q	probably damaging	Het
Tm9sf2	T	A	14: 122,143,460 (GRCm38)	I155N	probably damaging	Het
Trmt9b	A	G	8: 36,512,347 (GRCm38)	K368R	probably benign	Het
Tuft1	A	G	3: 94,635,503 (GRCm38)		probably benign	Het
Ubash3b	A	G	9: 41,018,015 (GRCm38)		probably null	Het
Vwa1	A	G	4: 155,770,743 (GRCm38)		probably null	Het
Wnk1	T	C	6: 119,937,411 (GRCm38)	E80G	probably damaging	Het
Xpot	C	A	10: 121,604,494 (GRCm38)	A611S	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
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
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

Posted On

2013-10-07