Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:Mug2'

400578

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122040660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 452 (V452D)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably benign
Transcript: ENSMUST00000081777
AA Change: V452D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: V452D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	C	5: 121,521,152 (GRCm38)	E26G	probably benign	Het
Adar	T	A	3: 89,745,944 (GRCm38)	M797K	probably damaging	Het
Amdhd1	A	T	10: 93,525,985 (GRCm38)	C352S	probably damaging	Het
AW554918	C	A	18: 25,340,299 (GRCm38)	R387S	probably damaging	Het
C130079G13Rik	T	C	3: 59,936,485 (GRCm38)	L200P	probably damaging	Het
Cabp1	A	G	5: 115,186,043 (GRCm38)	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,111,870 (GRCm38)	L387P	probably damaging	Het
Cds2	T	A	2: 132,298,483 (GRCm38)	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,744,147 (GRCm38)	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,494,986 (GRCm38)	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,115,274 (GRCm38)	Q210*	probably null	Het
Cpne8	G	A	15: 90,648,609 (GRCm38)	T65I	probably benign	Het
Crygn	A	G	5: 24,756,158 (GRCm38)	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,589,546 (GRCm38)	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,702,372 (GRCm38)	D464G	probably benign	Het
Dapp1	C	T	3: 137,981,385 (GRCm38)	S12N	probably benign	Het
Dhps	G	A	8: 85,073,406 (GRCm38)	G162R	probably damaging	Het
Dsp	T	G	13: 38,192,902 (GRCm38)	Y1554*	probably null	Het
Etl4	G	T	2: 20,744,042 (GRCm38)	R397L	probably damaging	Het
Ezh2	C	T	6: 47,551,725 (GRCm38)	C291Y	probably benign	Het
Gbp9	T	C	5: 105,083,812 (GRCm38)	S303G	probably benign	Het
Gm11444	A	C	11: 85,848,019 (GRCm38)	S83A	unknown	Het
Gm156	T	A	6: 129,775,818 (GRCm38)	Y8F	possibly damaging	Het
Gpat4	A	G	8: 23,182,696 (GRCm38)	V46A	possibly damaging	Het
Haus6	T	C	4: 86,582,985 (GRCm38)	D883G	possibly damaging	Het
Hinfp	T	C	9: 44,296,392 (GRCm38)	E439G	probably benign	Het
Ifna14	T	A	4: 88,571,362 (GRCm38)	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,687,504 (GRCm38)	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,673,194 (GRCm38)		noncoding transcript	Het
Mcmdc2	T	C	1: 9,920,435 (GRCm38)	V279A	probably benign	Het
Ndufb3	C	G	1: 58,591,122 (GRCm38)		probably benign	Het
Oas1d	G	T	5: 120,919,145 (GRCm38)	K271N	probably benign	Het
Olfr1012	A	G	2: 85,760,214 (GRCm38)	L54P	probably damaging	Het
Olfr1215	T	A	2: 89,001,763 (GRCm38)	H175L	possibly damaging	Het
Olfr203	T	A	16: 59,303,740 (GRCm38)	F196I	probably benign	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcnt	T	A	10: 76,418,544 (GRCm38)	H817L	probably benign	Het
Per3	G	T	4: 151,012,895 (GRCm38)	S724R	probably benign	Het
Phlpp1	T	A	1: 106,173,394 (GRCm38)	V464E	probably damaging	Het
Psme4	A	G	11: 30,853,272 (GRCm38)	E38G	probably benign	Het
Qtrt2	T	C	16: 43,867,425 (GRCm38)	N264S	probably benign	Het
Ranbp2	G	A	10: 58,464,443 (GRCm38)	R557H	probably benign	Het
Rptor	T	A	11: 119,603,816 (GRCm38)	S3T	probably benign	Het
Saxo1	T	A	4: 86,487,782 (GRCm38)	Y60F	probably damaging	Het
St3gal1	A	G	15: 67,113,715 (GRCm38)	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149 (GRCm38)	S324L	probably benign	Het
Topbp1	A	G	9: 103,346,672 (GRCm38)		probably benign	Het
Urb1	T	C	16: 90,792,748 (GRCm38)	T382A	possibly damaging	Het
Vmn1r178	A	T	7: 23,894,389 (GRCm38)	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,396,087 (GRCm38)	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,593,210 (GRCm38)	D281G	probably benign	Het
Zfp804b	A	T	5: 6,770,013 (GRCm38)	C1017S	probably benign	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122,047,487 (GRCm38)	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122,040,654 (GRCm38)	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122,081,279 (GRCm38)	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122,049,628 (GRCm38)	splice site	probably benign
IGL01477:Mug2	APN	6	122,081,684 (GRCm38)	splice site	probably benign
IGL01926:Mug2	APN	6	122,036,104 (GRCm38)	splice site	probably benign
IGL02019:Mug2	APN	6	122,047,435 (GRCm38)	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122,036,056 (GRCm38)	missense	probably benign
IGL02310:Mug2	APN	6	122,059,123 (GRCm38)	splice site	probably benign
IGL02484:Mug2	APN	6	122,072,753 (GRCm38)	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122,070,843 (GRCm38)	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122,072,771 (GRCm38)	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122,081,326 (GRCm38)	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122,081,387 (GRCm38)	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122,040,648 (GRCm38)	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122,036,063 (GRCm38)	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122,074,714 (GRCm38)	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122,071,011 (GRCm38)	splice site	probably benign
R0225:Mug2	UTSW	6	122,074,714 (GRCm38)	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122,081,599 (GRCm38)	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122,075,294 (GRCm38)	missense	probably benign
R0959:Mug2	UTSW	6	122,085,495 (GRCm38)	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122,059,055 (GRCm38)	missense	probably benign
R1239:Mug2	UTSW	6	122,081,678 (GRCm38)	splice site	probably benign
R1318:Mug2	UTSW	6	122,077,402 (GRCm38)	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122,040,533 (GRCm38)	splice site	probably benign
R1706:Mug2	UTSW	6	122,036,232 (GRCm38)	splice site	probably benign
R1761:Mug2	UTSW	6	122,074,705 (GRCm38)	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122,071,842 (GRCm38)	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122,070,870 (GRCm38)	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122,079,639 (GRCm38)	missense	probably benign
R2054:Mug2	UTSW	6	122,077,492 (GRCm38)	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122,079,612 (GRCm38)	missense	probably benign
R2420:Mug2	UTSW	6	122,083,460 (GRCm38)	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122,084,376 (GRCm38)	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122,074,724 (GRCm38)	splice site	probably null
R2918:Mug2	UTSW	6	122,074,724 (GRCm38)	splice site	probably null
R3423:Mug2	UTSW	6	122,047,506 (GRCm38)	splice site	probably benign
R3834:Mug2	UTSW	6	122,049,787 (GRCm38)	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122,075,567 (GRCm38)	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122,063,563 (GRCm38)	missense	probably benign
R4227:Mug2	UTSW	6	122,040,732 (GRCm38)	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122,063,673 (GRCm38)	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122,063,673 (GRCm38)	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122,071,007 (GRCm38)	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122,079,630 (GRCm38)	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122,082,752 (GRCm38)	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122,079,638 (GRCm38)	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122,036,296 (GRCm38)	missense	probably benign
R4732:Mug2	UTSW	6	122,071,872 (GRCm38)	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122,071,872 (GRCm38)	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122,079,613 (GRCm38)	missense	probably benign
R4888:Mug2	UTSW	6	122,081,195 (GRCm38)	missense	probably damaging	1.00
R5347:Mug2	UTSW	6	122,081,592 (GRCm38)	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122,049,729 (GRCm38)	nonsense	probably null
R5495:Mug2	UTSW	6	122,079,650 (GRCm38)	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122,084,381 (GRCm38)	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122,083,500 (GRCm38)	missense	probably null	0.98
R6180:Mug2	UTSW	6	122,079,606 (GRCm38)	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122,037,046 (GRCm38)	missense	probably benign
R6199:Mug2	UTSW	6	122,047,439 (GRCm38)	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122,075,255 (GRCm38)	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122,082,754 (GRCm38)	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122,047,442 (GRCm38)	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122,078,694 (GRCm38)	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122,082,721 (GRCm38)	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122,075,247 (GRCm38)	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122,083,466 (GRCm38)	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122,047,487 (GRCm38)	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122,040,570 (GRCm38)	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122,079,726 (GRCm38)	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122,063,711 (GRCm38)	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122,079,644 (GRCm38)	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122,040,719 (GRCm38)	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122,078,795 (GRCm38)	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122,081,358 (GRCm38)	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122,036,282 (GRCm38)	missense	probably benign
R7850:Mug2	UTSW	6	122,075,211 (GRCm38)	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122,081,545 (GRCm38)	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122,075,608 (GRCm38)	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122,040,584 (GRCm38)	missense	probably benign
R8348:Mug2	UTSW	6	122,072,233 (GRCm38)	nonsense	probably null
R8557:Mug2	UTSW	6	122,063,701 (GRCm38)	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122,081,610 (GRCm38)	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122,063,689 (GRCm38)	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122,084,369 (GRCm38)	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122,040,668 (GRCm38)	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122,077,483 (GRCm38)	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122,075,289 (GRCm38)	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122,040,741 (GRCm38)	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122,051,731 (GRCm38)	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122,051,792 (GRCm38)	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122,037,121 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGATATTCTGTCTGCTAGGCAATC -3'
(R):5'- CCAATGTGTATAGAGAGACAAGGTC -3'

Sequencing Primer
(F):5'- GTCTGCTAGGCAATCTACAGCATAG -3'
(R):5'- TCAGGAGAGGAAAGAATTCTGTTGTG -3'

Posted On

2016-07-06