Mutagenetix > Incidental Mutation

Incidental Mutation 'R2420:Mug2'

249202

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

040382-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121983720-122062924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122060419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1385 (T1385K)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081777]

AlphaFold

P28666

Predicted Effect

probably damaging
Transcript: ENSMUST00000081777
AA Change: T1385K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: T1385K

Domain	Start	End	E-Value	Type
Pfam:A2M_N	128	221	3.5e-21	PFAM
A2M_N_2	449	599	1.05e-42	SMART
low complexity region	711	728	N/A	INTRINSIC
A2M	740	830	7.16e-36	SMART
Pfam:Thiol-ester_cl	963	992	1e-18	PFAM
low complexity region	994	1005	N/A	INTRINSIC
Pfam:A2M_comp	1012	1097	5.8e-34	PFAM
Pfam:A2M_comp	1093	1243	3e-47	PFAM
A2M_recep	1353	1440	1.85e-38	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,270,921 (GRCm39)	K48R	probably damaging	Het
Acsm2	T	C	7: 119,162,857 (GRCm39)	F44L	probably damaging	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Ahnak	C	T	19: 8,986,620 (GRCm39)	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,437,179 (GRCm39)	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,767,629 (GRCm39)	I24V	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Chst9	A	T	18: 15,585,341 (GRCm39)	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341 (GRCm39)	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Egln1	T	C	8: 125,674,985 (GRCm39)	N270S	probably benign	Het
Eme1	A	G	11: 94,536,640 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,274 (GRCm39)	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,289,295 (GRCm39)	I259T	probably benign	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Fga	A	T	3: 82,940,461 (GRCm39)	N705I	possibly damaging	Het
Gas1	G	T	13: 60,324,744 (GRCm39)		probably benign	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm44501	A	T	17: 40,889,600 (GRCm39)	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jcad	T	C	18: 4,675,952 (GRCm39)	M1238T	probably damaging	Het
Kank1	T	C	19: 25,387,821 (GRCm39)	L498S	probably damaging	Het
Krt10	G	A	11: 99,277,933 (GRCm39)	T338I	possibly damaging	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lilra6	A	G	7: 3,917,857 (GRCm39)	Y96H	probably damaging	Het
Ltc4s	A	G	11: 50,128,166 (GRCm39)		probably null	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mfn1	A	G	3: 32,623,664 (GRCm39)	I263V	probably benign	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Mypn	G	T	10: 63,028,648 (GRCm39)	Y138*	probably null	Het
Nav3	A	C	10: 109,699,674 (GRCm39)	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or4k42	T	C	2: 111,319,602 (GRCm39)		probably null	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5p51	T	C	7: 107,444,025 (GRCm39)	K305R	probably benign	Het
Pak1	A	T	7: 97,503,686 (GRCm39)	D7V	probably benign	Het
Pax3	A	T	1: 78,173,501 (GRCm39)		probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Prickle1	A	G	15: 93,401,518 (GRCm39)	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,532,896 (GRCm39)	E36G	possibly damaging	Het
Prss45	A	G	9: 110,668,160 (GRCm39)	I118V	possibly damaging	Het
Psd4	T	G	2: 24,291,253 (GRCm39)	V597G	probably damaging	Het
Psmb10	A	G	8: 106,663,934 (GRCm39)	S108P	probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Shank3	A	T	15: 89,405,413 (GRCm39)	K455*	probably null	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Tep1	T	A	14: 51,071,480 (GRCm39)	H2055L	probably benign	Het
Terb1	T	C	8: 105,225,227 (GRCm39)	T14A	probably damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyr	T	A	7: 87,078,397 (GRCm39)	I488F	probably benign	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wnk1	A	G	6: 119,913,328 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp13	A	C	17: 23,795,186 (GRCm39)	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122,017,613 (GRCm39)	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122,058,238 (GRCm39)	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122,026,587 (GRCm39)	splice site	probably benign
IGL01477:Mug2	APN	6	122,058,643 (GRCm39)	splice site	probably benign
IGL01926:Mug2	APN	6	122,013,063 (GRCm39)	splice site	probably benign
IGL02019:Mug2	APN	6	122,024,394 (GRCm39)	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122,013,015 (GRCm39)	missense	probably benign
IGL02310:Mug2	APN	6	122,036,082 (GRCm39)	splice site	probably benign
IGL02484:Mug2	APN	6	122,049,712 (GRCm39)	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122,047,802 (GRCm39)	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122,049,730 (GRCm39)	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122,058,285 (GRCm39)	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122,058,346 (GRCm39)	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122,017,607 (GRCm39)	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122,013,022 (GRCm39)	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122,047,970 (GRCm39)	splice site	probably benign
R0225:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122,058,558 (GRCm39)	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122,052,253 (GRCm39)	missense	probably benign
R0959:Mug2	UTSW	6	122,062,454 (GRCm39)	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122,036,014 (GRCm39)	missense	probably benign
R1239:Mug2	UTSW	6	122,058,637 (GRCm39)	splice site	probably benign
R1318:Mug2	UTSW	6	122,054,361 (GRCm39)	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122,017,492 (GRCm39)	splice site	probably benign
R1706:Mug2	UTSW	6	122,013,191 (GRCm39)	splice site	probably benign
R1761:Mug2	UTSW	6	122,051,664 (GRCm39)	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122,048,801 (GRCm39)	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122,047,829 (GRCm39)	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122,056,598 (GRCm39)	missense	probably benign
R2054:Mug2	UTSW	6	122,054,451 (GRCm39)	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122,056,571 (GRCm39)	missense	probably benign
R2432:Mug2	UTSW	6	122,061,335 (GRCm39)	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R2918:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R3423:Mug2	UTSW	6	122,024,465 (GRCm39)	splice site	probably benign
R3834:Mug2	UTSW	6	122,026,746 (GRCm39)	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122,052,526 (GRCm39)	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122,040,522 (GRCm39)	missense	probably benign
R4227:Mug2	UTSW	6	122,017,691 (GRCm39)	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122,047,966 (GRCm39)	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122,056,589 (GRCm39)	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122,059,711 (GRCm39)	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122,056,597 (GRCm39)	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122,013,255 (GRCm39)	missense	probably benign
R4732:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122,056,572 (GRCm39)	missense	probably benign
R4888:Mug2	UTSW	6	122,058,154 (GRCm39)	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122,017,619 (GRCm39)	missense	probably benign
R5347:Mug2	UTSW	6	122,058,551 (GRCm39)	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122,026,688 (GRCm39)	nonsense	probably null
R5495:Mug2	UTSW	6	122,056,609 (GRCm39)	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122,061,340 (GRCm39)	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122,060,459 (GRCm39)	missense	probably null	0.98
R6180:Mug2	UTSW	6	122,056,565 (GRCm39)	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122,014,005 (GRCm39)	missense	probably benign
R6199:Mug2	UTSW	6	122,024,398 (GRCm39)	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122,052,214 (GRCm39)	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122,059,713 (GRCm39)	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122,024,401 (GRCm39)	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122,055,653 (GRCm39)	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122,059,680 (GRCm39)	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122,052,206 (GRCm39)	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122,060,425 (GRCm39)	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122,017,529 (GRCm39)	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122,056,685 (GRCm39)	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122,040,670 (GRCm39)	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122,056,603 (GRCm39)	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122,017,678 (GRCm39)	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122,055,754 (GRCm39)	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122,058,317 (GRCm39)	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122,013,241 (GRCm39)	missense	probably benign
R7850:Mug2	UTSW	6	122,052,170 (GRCm39)	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122,058,504 (GRCm39)	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122,052,567 (GRCm39)	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122,017,543 (GRCm39)	missense	probably benign
R8348:Mug2	UTSW	6	122,049,192 (GRCm39)	nonsense	probably null
R8557:Mug2	UTSW	6	122,040,660 (GRCm39)	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122,058,569 (GRCm39)	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122,040,648 (GRCm39)	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122,061,328 (GRCm39)	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122,017,627 (GRCm39)	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122,054,442 (GRCm39)	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122,052,248 (GRCm39)	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122,017,700 (GRCm39)	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122,028,690 (GRCm39)	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122,028,751 (GRCm39)	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122,014,080 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTATAGTAGAGTAGCATTCACAG -3'
(R):5'- TGCTTCCCACGTAGACTCAC -3'

Sequencing Primer
(F):5'- GTAGAGTAGCATTCACAGTTTTCAG -3'
(R):5'- CCAAGAGAGACACCTCACCTTCG -3'

Posted On

2014-11-12