Mutagenetix > Incidental Mutations

Incidental Mutation 'R4091:Mon2'

317624

Institutional Source

Beutler Lab

Gene Symbol

Mon2

Ensembl Gene

ENSMUSG00000034602

Gene Name

MON2 homolog, regulator of endosome to Golgi trafficking

Synonyms

2610528O22Rik, SF21

MMRRC Submission

041626-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R4091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122992060-123076505 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123038510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 311 (R311H)

Ref Sequence

ENSEMBL: ENSMUSP00000151951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935] [ENSMUST00000219203]

AlphaFold

Q80TL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037557
AA Change: R311H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: R311H

Domain	Start	End	E-Value	Type
low complexity region	119	138	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
Pfam:Sec7_N	208	294	6.5e-16	PFAM
Pfam:Sec7_N	299	385	2.6e-16	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	615	627	N/A	INTRINSIC
Pfam:DUF1981	844	929	2.4e-21	PFAM
low complexity region	984	1001	N/A	INTRINSIC
low complexity region	1182	1193	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073792
AA Change: R311H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: R311H

Domain	Start	End	E-Value	Type
Pfam:DCB	8	184	3e-72	PFAM
Pfam:Sec7_N	211	384	3.1e-58	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	615	627	N/A	INTRINSIC
Pfam:DUF1981	848	929	6.6e-20	PFAM
Pfam:Mon2_C	932	1706	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170935
AA Change: R311H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: R311H

Domain	Start	End	E-Value	Type
low complexity region	119	138	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
Pfam:Sec7_N	208	294	6.5e-16	PFAM
Pfam:Sec7_N	299	385	2.6e-16	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
low complexity region	616	628	N/A	INTRINSIC
Pfam:DUF1981	845	930	8.1e-22	PFAM
low complexity region	985	1002	N/A	INTRINSIC
low complexity region	1183	1194	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000219203
AA Change: R311H

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

Meta Mutation Damage Score

0.8102

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,745,378	S674P	possibly damaging	Het
4932438A13Rik	G	A	3: 37,030,589	A3897T	probably benign	Het
A530099J19Rik	T	A	13: 19,729,465		noncoding transcript	Het
Abca3	C	T	17: 24,397,482	T966M	probably damaging	Het
Adam2	A	T	14: 66,029,723	Y696N	probably damaging	Het
Aes	G	A	10: 81,565,584	G162D	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Arhgap25	G	T	6: 87,463,035	S543R	probably benign	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Carns1	C	T	19: 4,171,683	R191Q	probably damaging	Het
Casp8ap2	C	A	4: 32,643,611	P895T	probably damaging	Het
Col12a1	T	A	9: 79,702,364	I287F	probably damaging	Het
Cystm1	A	G	18: 36,366,547	N5S	unknown	Het
Dnah8	T	C	17: 30,769,839	V3261A	probably damaging	Het
Dnajc11	A	G	4: 151,978,093		probably benign	Het
Dock4	T	C	12: 40,844,267	S1847P	probably damaging	Het
Dync2h1	A	G	9: 7,131,881	V1642A	probably benign	Het
Eftud2	T	C	11: 102,839,416		probably null	Het
Fam221b	A	G	4: 43,665,987	I208T	probably benign	Het
Gpr37l1	T	C	1: 135,161,563	I255V	probably benign	Het
Grm7	G	A	6: 110,914,340	S178N	probably damaging	Het
Hspa12b	T	A	2: 131,133,488		probably null	Het
Kctd3	A	T	1: 188,995,720		probably benign	Het
Kynu	G	A	2: 43,679,872	V389M	possibly damaging	Het
Lcat	A	G	8: 105,939,906	L328P	probably benign	Het
Lrrn2	C	T	1: 132,937,652	Q152*	probably null	Het
Maml1	G	A	11: 50,291,829	P78L	probably benign	Het
Mef2b	G	A	8: 70,165,102	V37M	probably damaging	Het
Mindy2	A	T	9: 70,634,060	M281K	probably damaging	Het
Mtr	A	T	13: 12,231,057	V394E	probably damaging	Het
Myh14	T	A	7: 44,632,991	T745S	possibly damaging	Het
Nme9	T	A	9: 99,464,527	D131E	possibly damaging	Het
Nphp4	C	A	4: 152,547,018	Q792K	probably damaging	Het
Nrxn2	T	A	19: 6,473,414	C479S	probably damaging	Het
Nsmf	T	C	2: 25,060,859	I406T	probably damaging	Het
Olfr1431	A	T	19: 12,209,779	D71V	probably damaging	Het
Olfr517	G	A	7: 108,868,443	A237V	probably damaging	Het
Olfr945	T	A	9: 39,258,034	I213F	possibly damaging	Het
Pbrm1	A	G	14: 31,036,003	T197A	probably benign	Het
Pla2r1	T	A	2: 60,432,593	N1034I	probably damaging	Het
Rps6-ps2	A	G	8: 88,806,691		noncoding transcript	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxfp1	A	T	3: 79,644,761	D744E	probably benign	Het
Samd9l	T	C	6: 3,376,887	N125D	probably benign	Het
Serpina3a	G	A	12: 104,116,366	V133I	probably benign	Het
Slc22a30	C	T	19: 8,404,545	V121M	probably damaging	Het
Smarcc1	T	A	9: 110,164,829	D247E	possibly damaging	Het
Smg9	T	A	7: 24,420,867	L422Q	probably null	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Utrn	T	A	10: 12,710,171	D954V	probably benign	Het
Vmn1r227	T	A	17: 20,735,516		noncoding transcript	Het
Vmn2r11	A	C	5: 109,054,750		probably null	Het
Vmn2r84	A	T	10: 130,391,369	M200K	probably damaging	Het
Vmn2r88	T	A	14: 51,415,426	Y469N	probably damaging	Het
Wdcp	A	G	12: 4,855,279	N600S	probably null	Het
Wdfy4	T	G	14: 33,125,880	R838S	possibly damaging	Het

Other mutations in Mon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mon2	APN	10	123026299	missense	probably damaging	1.00
IGL01072:Mon2	APN	10	123010539	nonsense	probably null
IGL02080:Mon2	APN	10	123052190	missense	probably damaging	0.98
IGL02157:Mon2	APN	10	123013472	missense	probably damaging	1.00
IGL02419:Mon2	APN	10	123016447	missense	probably benign	0.05
IGL02498:Mon2	APN	10	123034330	missense	probably benign	0.00
IGL02638:Mon2	APN	10	123023939	missense	probably damaging	1.00
IGL02664:Mon2	APN	10	123009496	splice site	probably benign
IGL02690:Mon2	APN	10	123009627	missense	possibly damaging	0.67
IGL02878:Mon2	APN	10	123006991	missense	probably benign	0.09
IGL03092:Mon2	APN	10	123018100	missense	probably damaging	1.00
IGL03103:Mon2	APN	10	123030103	splice site	probably benign
IGL03208:Mon2	APN	10	123018069	splice site	probably benign
R0010:Mon2	UTSW	10	123032694	missense	probably damaging	1.00
R0016:Mon2	UTSW	10	123035546	missense	probably damaging	0.96
R0016:Mon2	UTSW	10	123035546	missense	probably damaging	0.96
R0027:Mon2	UTSW	10	123036048	missense	possibly damaging	0.66
R0027:Mon2	UTSW	10	123036048	missense	possibly damaging	0.66
R0145:Mon2	UTSW	10	123013512	missense	possibly damaging	0.94
R0390:Mon2	UTSW	10	123007021	missense	probably null	0.05
R0481:Mon2	UTSW	10	123013396	missense	possibly damaging	0.94
R0513:Mon2	UTSW	10	123038610	missense	probably damaging	1.00
R0599:Mon2	UTSW	10	123026065	splice site	probably benign
R1226:Mon2	UTSW	10	123002819	missense	probably benign	0.17
R1548:Mon2	UTSW	10	123036007	splice site	probably benign
R1598:Mon2	UTSW	10	123016396	missense	probably damaging	1.00
R1650:Mon2	UTSW	10	122995777	missense	probably benign	0.45
R1687:Mon2	UTSW	10	123026124	missense	probably damaging	0.98
R1721:Mon2	UTSW	10	123031097	missense	probably damaging	0.98
R1768:Mon2	UTSW	10	123013763	missense	probably benign	0.00
R1827:Mon2	UTSW	10	123046311	missense	probably damaging	0.97
R1879:Mon2	UTSW	10	123002885	missense	probably damaging	1.00
R1954:Mon2	UTSW	10	123038483	missense	probably damaging	1.00
R1955:Mon2	UTSW	10	123038483	missense	probably damaging	1.00
R1968:Mon2	UTSW	10	123009565	missense	probably damaging	1.00
R2060:Mon2	UTSW	10	122995776	missense	probably damaging	1.00
R2160:Mon2	UTSW	10	123075929	nonsense	probably null
R2165:Mon2	UTSW	10	123042364	splice site	probably null
R3737:Mon2	UTSW	10	123013375	missense	probably damaging	1.00
R3814:Mon2	UTSW	10	123013565	missense	probably damaging	0.98
R4058:Mon2	UTSW	10	123002819	missense	probably benign	0.17
R4214:Mon2	UTSW	10	123016492	missense	probably benign	0.03
R4354:Mon2	UTSW	10	123026983	missense	probably benign	0.02
R4422:Mon2	UTSW	10	123042982	missense	probably damaging	1.00
R4505:Mon2	UTSW	10	123009589	missense	probably damaging	0.99
R4791:Mon2	UTSW	10	123006057	missense	probably benign	0.01
R4797:Mon2	UTSW	10	123016517	missense	probably benign	0.45
R4944:Mon2	UTSW	10	123038459	critical splice donor site	probably null
R4982:Mon2	UTSW	10	122995789	missense	probably damaging	1.00
R5298:Mon2	UTSW	10	123010606	missense	probably benign
R5503:Mon2	UTSW	10	123032645	missense	possibly damaging	0.54
R5653:Mon2	UTSW	10	123026094	missense	probably damaging	0.96
R5687:Mon2	UTSW	10	123008239	missense	probably damaging	0.99
R5838:Mon2	UTSW	10	123010492	critical splice donor site	probably null
R6108:Mon2	UTSW	10	123032695	missense	probably benign	0.00
R6182:Mon2	UTSW	10	123038659	splice site	probably null
R6355:Mon2	UTSW	10	123022920	missense	possibly damaging	0.58
R6358:Mon2	UTSW	10	123013504	missense	probably damaging	0.98
R6548:Mon2	UTSW	10	123036093	missense	probably damaging	1.00
R6557:Mon2	UTSW	10	123016402	missense	probably damaging	1.00
R6649:Mon2	UTSW	10	123038480	missense	possibly damaging	0.46
R7140:Mon2	UTSW	10	123035453	missense	probably benign	0.00
R7303:Mon2	UTSW	10	123038459	critical splice donor site	probably null
R7317:Mon2	UTSW	10	123013946	missense	probably damaging	0.97
R7355:Mon2	UTSW	10	123009516	missense	probably benign
R7508:Mon2	UTSW	10	123023939	missense	probably damaging	1.00
R7509:Mon2	UTSW	10	123032552	missense	probably benign
R7647:Mon2	UTSW	10	123006026	missense	probably benign
R7720:Mon2	UTSW	10	123032588	missense	probably benign	0.00
R7799:Mon2	UTSW	10	123042331	missense	probably benign	0.41
R7801:Mon2	UTSW	10	123059186	critical splice donor site	probably null
R7823:Mon2	UTSW	10	123032654	missense	probably damaging	1.00
R7985:Mon2	UTSW	10	123016308	missense	probably damaging	1.00
R8310:Mon2	UTSW	10	123002783	missense	probably damaging	1.00
R8810:Mon2	UTSW	10	123009611	missense	possibly damaging	0.94
R8825:Mon2	UTSW	10	123013871	missense	probably benign	0.00
R8937:Mon2	UTSW	10	123059205	missense	probably benign
R8978:Mon2	UTSW	10	123035564	nonsense	probably null
R9011:Mon2	UTSW	10	123026308	missense	possibly damaging	0.95
R9213:Mon2	UTSW	10	123036111	nonsense	probably null
R9358:Mon2	UTSW	10	123032547	missense	probably benign	0.00
X0022:Mon2	UTSW	10	123006102	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCTAACTCAGGCCCGAAGTA -3'
(R):5'- AGAAGTATCACTACAAACTCAGTGA -3'

Sequencing Primer
(F):5'- GCTGTCTAAGGACCAAAGCCTTTG -3'
(R):5'- GCTCGTGATCAAGCTCT -3'

Posted On

2015-05-15