Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Mug2'

552648

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

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

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121983720-122062924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122052206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 988 (V988A)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably damaging
Transcript: ENSMUST00000081777
AA Change: V988A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: V988A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably 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
R2420:Mug2	UTSW	6	122,060,419 (GRCm39)	missense	probably damaging	1.00
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
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'- CCATCACTGAAAAGGCATTCATTC -3'
(R):5'- AAAACAGTGCTCTGCTCTCC -3'

Sequencing Primer
(F):5'- CCCTGTACTGGGGCATAAAAAGTTTG -3'
(R):5'- CCCTCCAATGCTACCCCATTTCTAG -3'

Posted On

2019-05-15