Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Mug2'

33847

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

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

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122074714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 952 (V952L)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081777
AA Change: V952L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: V952L

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122047487	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122040654	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122081279	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122049628	splice site	probably benign
IGL01477:Mug2	APN	6	122081684	splice site	probably benign
IGL01926:Mug2	APN	6	122036104	splice site	probably benign
IGL02019:Mug2	APN	6	122047435	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122036056	missense	probably benign
IGL02310:Mug2	APN	6	122059123	splice site	probably benign
IGL02484:Mug2	APN	6	122072753	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122070843	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122072771	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122081326	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122081387	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122040648	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122036063	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122074714	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122071011	splice site	probably benign
R0514:Mug2	UTSW	6	122081599	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122075294	missense	probably benign
R0959:Mug2	UTSW	6	122085495	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122059055	missense	probably benign
R1239:Mug2	UTSW	6	122081678	splice site	probably benign
R1318:Mug2	UTSW	6	122077402	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122040533	splice site	probably benign
R1706:Mug2	UTSW	6	122036232	splice site	probably benign
R1761:Mug2	UTSW	6	122074705	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122071842	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122070870	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122079639	missense	probably benign
R2054:Mug2	UTSW	6	122077492	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122079612	missense	probably benign
R2420:Mug2	UTSW	6	122083460	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122084376	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122074724	splice site	probably null
R2918:Mug2	UTSW	6	122074724	splice site	probably null
R3423:Mug2	UTSW	6	122047506	splice site	probably benign
R3834:Mug2	UTSW	6	122049787	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122075567	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122063563	missense	probably benign
R4227:Mug2	UTSW	6	122040732	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122063673	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122063673	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122071007	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122079630	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122082752	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122079638	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122036296	missense	probably benign
R4732:Mug2	UTSW	6	122071872	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122071872	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122079613	missense	probably benign
R4888:Mug2	UTSW	6	122081195	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122040660	missense	probably benign
R5347:Mug2	UTSW	6	122081592	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122049729	nonsense	probably null
R5495:Mug2	UTSW	6	122079650	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122084381	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122083500	missense	probably null	0.98
R6180:Mug2	UTSW	6	122079606	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122037046	missense	probably benign
R6199:Mug2	UTSW	6	122047439	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122075255	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122082754	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122047442	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122078694	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122082721	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122075247	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122083466	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122047487	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122040570	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122079726	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122063711	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122079644	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122040719	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122078795	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122081358	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122036282	missense	probably benign
R7850:Mug2	UTSW	6	122075211	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122081545	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122075608	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122040584	missense	probably benign
R8348:Mug2	UTSW	6	122072233	nonsense	probably null
R8557:Mug2	UTSW	6	122063701	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122081610	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122063689	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122084369	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122040668	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122077483	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122075289	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122040741	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122051731	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122051792	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122037121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGGAGCTTGACAAACCTGTG -3'
(R):5'- TGTGCTAGAAGCCAGTGGGAATTG -3'

Sequencing Primer
(F):5'- GGAAACATGGATTTGGGATATTTACG -3'
(R):5'- CCAGTGGGAATTGAGGGGATTAAG -3'

Posted On

2013-05-09