Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:Csmd2'

655454

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

067840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127881650-128461449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128440483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 3183 (T3183P)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,922,983 (GRCm39)	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,173,491 (GRCm39)	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,757,840 (GRCm39)	E758G	probably benign	Het
Akap3	T	A	6: 126,841,493 (GRCm39)	D37E	probably damaging	Het
Ano5	A	T	7: 51,222,776 (GRCm39)	H445L	probably benign	Het
Ap4b1	T	A	3: 103,720,116 (GRCm39)	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,470,354 (GRCm39)	K135E	probably benign	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,885,366 (GRCm39)	Y1119*	probably null	Het
Birc6	T	A	17: 74,959,000 (GRCm39)	M3839K	probably damaging	Het
Cacna1a	A	G	8: 85,365,370 (GRCm39)	H2171R	probably benign	Het
Ccdc90b	T	A	7: 92,224,545 (GRCm39)	D183E	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh23	T	A	10: 60,274,618 (GRCm39)	T491S	probably benign	Het
Cercam	T	C	2: 29,771,829 (GRCm39)	S550P	possibly damaging	Het
Chd9	A	G	8: 91,723,472 (GRCm39)	H1019R	unknown	Het
Coil	A	T	11: 88,871,980 (GRCm39)	K114*	probably null	Het
Cul9	T	C	17: 46,814,506 (GRCm39)	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,587,186 (GRCm39)	Q199*	probably null	Het
Elp3	A	T	14: 65,785,360 (GRCm39)	S499R	probably benign	Het
Exoc8	T	G	8: 125,622,709 (GRCm39)	I553L	probably benign	Het
Fyco1	C	A	9: 123,659,142 (GRCm39)	V345L	probably benign	Het
Galr3	T	A	15: 78,927,279 (GRCm39)	V240E	probably damaging	Het
Gm21190	A	G	5: 15,730,862 (GRCm39)	S165P	probably benign	Het
Gnal	T	A	18: 67,350,255 (GRCm39)	Y372*	probably null	Het
H2-DMa	A	G	17: 34,357,416 (GRCm39)	N230D	probably damaging	Het
Hk2	T	C	6: 82,721,847 (GRCm39)	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,544 (GRCm39)	I16F	possibly damaging	Het
Ivl	T	C	3: 92,480,078 (GRCm39)		probably benign	Het
Klhl8	G	A	5: 104,015,814 (GRCm39)	T434M	probably benign	Het
Lct	A	T	1: 128,215,306 (GRCm39)	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,810,065 (GRCm39)	Y132F	probably damaging	Het
M6pr	T	C	6: 122,293,029 (GRCm39)	V203A	possibly damaging	Het
Map9	T	C	3: 82,284,476 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,360,892 (GRCm39)	D1401V	probably damaging	Het
Myh7	A	G	14: 55,227,786 (GRCm39)	S291P	probably damaging	Het
Nynrin	G	C	14: 56,107,703 (GRCm39)	V937L	probably benign	Het
Or5d44	C	T	2: 88,141,825 (GRCm39)	G105D	probably benign	Het
Or5m3	T	G	2: 85,838,149 (GRCm39)	F10V	probably damaging	Het
Pank2	A	G	2: 131,135,320 (GRCm39)	N386S	probably benign	Het
Phkg2	G	T	7: 127,181,528 (GRCm39)	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,590,432 (GRCm39)	V1772I	probably benign	Het
Plch2	G	T	4: 155,068,852 (GRCm39)	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,369,764 (GRCm39)	I77N	probably damaging	Het
Ptprb	A	G	10: 116,176,936 (GRCm39)	T954A	probably benign	Het
Ranbp3	T	C	17: 57,015,273 (GRCm39)	V325A	probably damaging	Het
Rgs10	A	T	7: 128,019,793 (GRCm39)	S16T	probably benign	Het
Scaper	A	T	9: 55,771,722 (GRCm39)	V398E	probably benign	Het
Selenot	A	G	3: 58,492,698 (GRCm39)	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,439,092 (GRCm39)	C173S	probably benign	Het
Slc13a3	G	T	2: 165,275,999 (GRCm39)	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,701,171 (GRCm39)	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,291,390 (GRCm39)	L256R	probably damaging	Het
Tektl1	T	C	10: 78,585,038 (GRCm39)	D266G	probably benign	Het
Tektl1	T	C	10: 78,586,463 (GRCm39)	D196G	probably damaging	Het
Top2a	C	T	11: 98,905,567 (GRCm39)	V337I	probably benign	Het
Tut4	T	C	4: 108,388,139 (GRCm39)	L1160P	probably damaging	Het
Unc13a	A	C	8: 72,098,405 (GRCm39)	F1127V	possibly damaging	Het
Wdr25	C	T	12: 108,992,393 (GRCm39)	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,664,719 (GRCm39)	L526R	probably damaging	Het
Zeb1	C	A	18: 5,705,127 (GRCm39)	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,303,243 (GRCm39)	S1580R	probably benign	Het
Zfhx3	A	G	8: 109,583,549 (GRCm39)	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,179,492 (GRCm39)	V1038L	probably benign	Het
Zfp759	T	A	13: 67,286,947 (GRCm39)	V166E	probably benign	Het
Zfp985	A	T	4: 147,667,883 (GRCm39)	K250N	possibly damaging	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128,377,266 (GRCm39)	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	127,952,845 (GRCm39)	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128,262,923 (GRCm39)	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128,308,081 (GRCm39)	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128,308,094 (GRCm39)	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128,457,098 (GRCm39)	nonsense	probably null
IGL01670:Csmd2	APN	4	128,407,164 (GRCm39)	splice site	probably benign
IGL01707:Csmd2	APN	4	128,276,798 (GRCm39)	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128,374,638 (GRCm39)	splice site	probably benign
IGL01837:Csmd2	APN	4	128,313,363 (GRCm39)	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128,453,740 (GRCm39)	missense	unknown
IGL02013:Csmd2	APN	4	128,215,116 (GRCm39)	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128,453,672 (GRCm39)	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128,371,263 (GRCm39)	splice site	probably benign
IGL02303:Csmd2	APN	4	128,262,801 (GRCm39)	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128,357,520 (GRCm39)	splice site	probably benign
IGL02322:Csmd2	APN	4	128,357,520 (GRCm39)	splice site	probably benign
IGL02338:Csmd2	APN	4	128,288,859 (GRCm39)	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128,407,165 (GRCm39)	splice site	probably benign
IGL02428:Csmd2	APN	4	128,368,609 (GRCm39)	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128,428,050 (GRCm39)	missense	probably benign
IGL02701:Csmd2	APN	4	128,389,934 (GRCm39)	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128,445,868 (GRCm39)	splice site	probably null
IGL02818:Csmd2	APN	4	128,103,521 (GRCm39)	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128,415,677 (GRCm39)	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128,215,128 (GRCm39)	nonsense	probably null
IGL02977:Csmd2	APN	4	128,387,069 (GRCm39)	nonsense	probably null
IGL03006:Csmd2	APN	4	128,374,558 (GRCm39)	splice site	probably benign
IGL03032:Csmd2	APN	4	128,412,834 (GRCm39)	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128,278,062 (GRCm39)	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128,308,092 (GRCm39)	nonsense	probably null
IGL03245:Csmd2	APN	4	128,402,915 (GRCm39)	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128,411,464 (GRCm39)	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128,190,222 (GRCm39)	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128,438,536 (GRCm39)	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128,389,822 (GRCm39)	missense	probably damaging	1.00
R0157:Csmd2	UTSW	4	128,415,704 (GRCm39)	missense	probably benign	0.02
R0390:Csmd2	UTSW	4	128,027,466 (GRCm39)	intron	probably benign
R0441:Csmd2	UTSW	4	128,414,023 (GRCm39)	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128,380,798 (GRCm39)	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128,007,469 (GRCm39)	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128,308,090 (GRCm39)	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128,389,981 (GRCm39)	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128,415,807 (GRCm39)	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128,380,794 (GRCm39)	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128,377,188 (GRCm39)	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128,389,988 (GRCm39)	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128,308,185 (GRCm39)	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2870:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2871:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2871:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2872:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2872:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2873:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2893:Csmd2	UTSW	4	128,432,786 (GRCm39)	splice site	probably null
R3796:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128,215,117 (GRCm39)	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128,404,717 (GRCm39)	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128,275,738 (GRCm39)	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128,373,888 (GRCm39)	splice site	probably null
R4581:Csmd2	UTSW	4	128,262,881 (GRCm39)	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127,881,921 (GRCm39)	missense	probably benign	0.35
R4649:Csmd2	UTSW	4	128,439,866 (GRCm39)	missense	probably benign
R4706:Csmd2	UTSW	4	128,438,544 (GRCm39)	missense	probably benign
R4776:Csmd2	UTSW	4	128,336,685 (GRCm39)	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128,411,542 (GRCm39)	missense	probably benign
R4900:Csmd2	UTSW	4	128,346,318 (GRCm39)	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128,415,723 (GRCm39)	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128,215,141 (GRCm39)	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	127,952,901 (GRCm39)	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128,445,828 (GRCm39)	missense	probably benign	0.27
R5172:Csmd2	UTSW	4	128,371,190 (GRCm39)	missense	probably benign	0.10
R5231:Csmd2	UTSW	4	128,439,842 (GRCm39)	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128,350,707 (GRCm39)	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128,380,677 (GRCm39)	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128,380,677 (GRCm39)	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128,442,612 (GRCm39)	missense	probably benign
R5551:Csmd2	UTSW	4	128,404,741 (GRCm39)	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128,356,682 (GRCm39)	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128,412,992 (GRCm39)	splice site	probably null
R5907:Csmd2	UTSW	4	128,091,178 (GRCm39)	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128,445,781 (GRCm39)	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128,439,944 (GRCm39)	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	127,952,827 (GRCm39)	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128,453,739 (GRCm39)	missense	unknown
R6075:Csmd2	UTSW	4	128,380,658 (GRCm39)	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128,387,127 (GRCm39)	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128,294,172 (GRCm39)	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128,377,245 (GRCm39)	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128,415,743 (GRCm39)	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127,881,893 (GRCm39)	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128,288,757 (GRCm39)	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128,266,390 (GRCm39)	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128,457,164 (GRCm39)	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128,357,606 (GRCm39)	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128,091,018 (GRCm39)	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128,277,743 (GRCm39)	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128,402,952 (GRCm39)	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128,357,587 (GRCm39)	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128,336,633 (GRCm39)	missense	probably benign
R6882:Csmd2	UTSW	4	128,343,062 (GRCm39)	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128,262,856 (GRCm39)	missense
R7028:Csmd2	UTSW	4	128,171,021 (GRCm39)	missense
R7096:Csmd2	UTSW	4	128,356,519 (GRCm39)	missense
R7122:Csmd2	UTSW	4	128,343,020 (GRCm39)	missense
R7125:Csmd2	UTSW	4	128,389,955 (GRCm39)	missense
R7197:Csmd2	UTSW	4	128,404,826 (GRCm39)	missense
R7234:Csmd2	UTSW	4	128,350,572 (GRCm39)	missense
R7299:Csmd2	UTSW	4	128,422,055 (GRCm39)	missense
R7301:Csmd2	UTSW	4	128,422,055 (GRCm39)	missense
R7319:Csmd2	UTSW	4	128,287,472 (GRCm39)	missense
R7331:Csmd2	UTSW	4	128,458,021 (GRCm39)	splice site	probably null
R7332:Csmd2	UTSW	4	128,313,360 (GRCm39)	missense
R7352:Csmd2	UTSW	4	128,451,429 (GRCm39)	missense
R7402:Csmd2	UTSW	4	128,215,889 (GRCm39)	missense
R7402:Csmd2	UTSW	4	128,215,888 (GRCm39)	missense
R7474:Csmd2	UTSW	4	128,439,920 (GRCm39)	missense
R7555:Csmd2	UTSW	4	128,346,251 (GRCm39)	missense
R7592:Csmd2	UTSW	4	128,357,591 (GRCm39)	missense
R7700:Csmd2	UTSW	4	128,439,549 (GRCm39)	splice site	probably null
R7714:Csmd2	UTSW	4	128,276,743 (GRCm39)	nonsense	probably null
R7734:Csmd2	UTSW	4	128,445,850 (GRCm39)	missense
R7735:Csmd2	UTSW	4	128,350,723 (GRCm39)	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128,377,249 (GRCm39)	missense
R7805:Csmd2	UTSW	4	128,313,366 (GRCm39)	missense
R7823:Csmd2	UTSW	4	128,103,698 (GRCm39)	missense
R7904:Csmd2	UTSW	4	128,313,346 (GRCm39)	missense
R7946:Csmd2	UTSW	4	128,414,058 (GRCm39)	missense
R7964:Csmd2	UTSW	4	128,417,303 (GRCm39)	missense
R7968:Csmd2	UTSW	4	128,091,118 (GRCm39)	missense
R8003:Csmd2	UTSW	4	128,432,980 (GRCm39)	nonsense	probably null
R8071:Csmd2	UTSW	4	128,287,331 (GRCm39)	missense
R8511:Csmd2	UTSW	4	128,262,692 (GRCm39)	missense
R8517:Csmd2	UTSW	4	128,446,479 (GRCm39)	missense
R8704:Csmd2	UTSW	4	128,091,147 (GRCm39)	missense
R8722:Csmd2	UTSW	4	128,445,743 (GRCm39)	unclassified	probably benign
R8729:Csmd2	UTSW	4	128,356,638 (GRCm39)	missense
R8801:Csmd2	UTSW	4	128,457,195 (GRCm39)	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128,440,477 (GRCm39)	missense
R8839:Csmd2	UTSW	4	128,336,681 (GRCm39)	missense
R8867:Csmd2	UTSW	4	128,451,469 (GRCm39)	missense
R8913:Csmd2	UTSW	4	128,417,351 (GRCm39)	missense
R8928:Csmd2	UTSW	4	128,369,582 (GRCm39)	missense
R8974:Csmd2	UTSW	4	128,446,380 (GRCm39)	missense
R9001:Csmd2	UTSW	4	128,308,079 (GRCm39)	missense
R9132:Csmd2	UTSW	4	128,443,007 (GRCm39)	missense
R9245:Csmd2	UTSW	4	128,200,168 (GRCm39)	missense
R9249:Csmd2	UTSW	4	128,313,323 (GRCm39)	nonsense	probably null
R9254:Csmd2	UTSW	4	128,091,112 (GRCm39)	missense
R9265:Csmd2	UTSW	4	128,294,163 (GRCm39)	missense
R9407:Csmd2	UTSW	4	128,442,613 (GRCm39)	missense
R9432:Csmd2	UTSW	4	128,171,004 (GRCm39)	missense
R9559:Csmd2	UTSW	4	128,438,561 (GRCm39)	missense
R9673:Csmd2	UTSW	4	128,308,062 (GRCm39)	missense
R9735:Csmd2	UTSW	4	128,402,901 (GRCm39)	missense
R9749:Csmd2	UTSW	4	128,389,921 (GRCm39)	missense
R9803:Csmd2	UTSW	4	128,262,986 (GRCm39)	missense
Z1177:Csmd2	UTSW	4	128,424,590 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TAACGGGGCTTGTTTCCTCAG -3'
(R):5'- ACTCTCATGGCGTCTTGAGAAATAG -3'

Sequencing Primer
(F):5'- TCAGGGCAGCCTCAGAACTC -3'
(R):5'- CGTCTTGAGAAATAGCTCTGCTTCAG -3'

Posted On

2020-10-20