Mutagenetix > Incidental Mutation

Incidental Mutation 'R7799:Mon2'

600439

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

045854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R7799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122878236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 229 (D229G)

Ref Sequence

ENSEMBL: ENSMUSP00000037568 (fasta)

Gene Model

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

AlphaFold

Q80TL7

Predicted Effect

probably benign
Transcript: ENSMUST00000037557
AA Change: D229G

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: D229G

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: D229G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: D229G

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

possibly damaging
Transcript: ENSMUST00000170935
AA Change: D229G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: D229G

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: D229G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.3051

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,362 (GRCm39)	V1517A	probably benign	Het
Adam17	C	A	12: 21,390,493 (GRCm39)	G410C	probably damaging	Het
Adcy3	A	G	12: 4,254,762 (GRCm39)	D698G	probably damaging	Het
Afap1	T	A	5: 36,131,742 (GRCm39)	N356K	possibly damaging	Het
Afm	A	G	5: 90,671,713 (GRCm39)	N132D	probably benign	Het
Bsdc1	T	A	4: 129,359,141 (GRCm39)		probably null	Het
Ccdc121rt2	T	G	5: 112,597,698 (GRCm39)	Y82D	not run	Het
Ccdc47	T	C	11: 106,101,143 (GRCm39)	E173G	possibly damaging	Het
Cit	T	G	5: 116,001,027 (GRCm39)	F142C	probably benign	Het
Cnga3	A	G	1: 37,300,852 (GRCm39)	D524G	probably damaging	Het
Cpne8	T	A	15: 90,424,450 (GRCm39)	D313V	probably damaging	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Flrt1	C	A	19: 7,073,229 (GRCm39)	L439F	possibly damaging	Het
Gkn1	A	T	6: 87,325,163 (GRCm39)	I82N	probably damaging	Het
Gm14410	C	A	2: 176,885,613 (GRCm39)	C217F	probably damaging	Het
Gm14412	G	T	2: 177,007,590 (GRCm39)	H102N	probably benign	Het
Gm3159	A	T	14: 4,397,585 (GRCm38)		probably benign	Het
Golm2	T	C	2: 121,764,022 (GRCm39)	V434A	probably benign	Het
Helz2	A	G	2: 180,879,782 (GRCm39)	M612T	probably benign	Het
Iars1	T	A	13: 49,876,494 (GRCm39)	I853N	probably damaging	Het
Kcna4	A	C	2: 107,126,237 (GRCm39)	I324L	possibly damaging	Het
Kcnh1	T	C	1: 192,117,183 (GRCm39)	S690P	probably damaging	Het
Kpna3	T	C	14: 61,622,182 (GRCm39)	Y194C	probably damaging	Het
Lrrc56	T	C	7: 140,789,515 (GRCm39)	S511P	probably damaging	Het
Ltbp1	A	G	17: 75,559,351 (GRCm39)	Y280C	probably damaging	Het
Macf1	A	G	4: 123,420,906 (GRCm39)	I116T	probably benign	Het
Mmp16	A	T	4: 18,112,112 (GRCm39)	N496I	probably damaging	Het
Or2b2	T	A	13: 21,887,369 (GRCm39)	L66Q	probably damaging	Het
Or2j6	A	T	7: 139,980,377 (GRCm39)	M194K	probably damaging	Het
Or52s1	A	G	7: 102,861,186 (GRCm39)	I40V	probably benign	Het
Or5p61	T	A	7: 107,758,637 (GRCm39)	I148F	probably benign	Het
Or5w14	G	T	2: 87,541,428 (GRCm39)	T274K	possibly damaging	Het
Pkp1	A	G	1: 135,817,695 (GRCm39)	F147L	possibly damaging	Het
Ppp1r3e	T	C	14: 55,114,672 (GRCm39)	Q30R	probably damaging	Het
Ppp2r5b	C	A	19: 6,282,628 (GRCm39)	R174L	probably benign	Het
Pramel58	A	G	5: 94,831,287 (GRCm39)	D98G	possibly damaging	Het
Qrfprl	G	T	6: 65,433,121 (GRCm39)	A314S	possibly damaging	Het
Rbm15	C	T	3: 107,239,459 (GRCm39)	R313H	probably damaging	Het
Rgs18	A	G	1: 144,629,603 (GRCm39)	F219L	probably damaging	Het
Ryr1	T	C	7: 28,702,985 (GRCm39)		probably null	Het
Sirpd	T	A	3: 15,361,723 (GRCm39)		probably null	Het
Sirt4	T	G	5: 115,617,805 (GRCm39)	I284L	probably benign	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Syde1	A	G	10: 78,425,741 (GRCm39)	I142T	probably benign	Het
Synj2	A	G	17: 6,088,098 (GRCm39)	E1383G	probably benign	Het
Syt4	A	T	18: 31,573,245 (GRCm39)	C423*	probably null	Het
Tfr2	T	A	5: 137,569,986 (GRCm39)	Y131N	possibly damaging	Het
Tgm1	C	T	14: 55,949,932 (GRCm39)	R92Q	unknown	Het
Thoc1	A	T	18: 9,984,441 (GRCm39)	D309V	probably damaging	Het
Vmn2r24	C	T	6: 123,757,422 (GRCm39)	H97Y	probably benign	Het
Wbp1	A	T	6: 83,097,176 (GRCm39)	Y89*	probably null	Het
Wnk1	A	G	6: 119,926,137 (GRCm39)	L1358P	probably benign	Het
Zfp14	T	C	7: 29,738,368 (GRCm39)	T206A	possibly damaging	Het
Zfp748	T	C	13: 67,689,608 (GRCm39)	T551A	probably benign	Het
Zfp9	A	T	6: 118,441,843 (GRCm39)	V273E	probably damaging	Het

Other mutations in Mon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mon2	APN	10	122,862,204 (GRCm39)	missense	probably damaging	1.00
IGL01072:Mon2	APN	10	122,846,444 (GRCm39)	nonsense	probably null
IGL02080:Mon2	APN	10	122,888,095 (GRCm39)	missense	probably damaging	0.98
IGL02157:Mon2	APN	10	122,849,377 (GRCm39)	missense	probably damaging	1.00
IGL02419:Mon2	APN	10	122,852,352 (GRCm39)	missense	probably benign	0.05
IGL02498:Mon2	APN	10	122,870,235 (GRCm39)	missense	probably benign	0.00
IGL02638:Mon2	APN	10	122,859,844 (GRCm39)	missense	probably damaging	1.00
IGL02664:Mon2	APN	10	122,845,401 (GRCm39)	splice site	probably benign
IGL02690:Mon2	APN	10	122,845,532 (GRCm39)	missense	possibly damaging	0.67
IGL02878:Mon2	APN	10	122,842,896 (GRCm39)	missense	probably benign	0.09
IGL03092:Mon2	APN	10	122,854,005 (GRCm39)	missense	probably damaging	1.00
IGL03103:Mon2	APN	10	122,866,008 (GRCm39)	splice site	probably benign
IGL03208:Mon2	APN	10	122,853,974 (GRCm39)	splice site	probably benign
R0010:Mon2	UTSW	10	122,868,599 (GRCm39)	missense	probably damaging	1.00
R0016:Mon2	UTSW	10	122,871,451 (GRCm39)	missense	probably damaging	0.96
R0016:Mon2	UTSW	10	122,871,451 (GRCm39)	missense	probably damaging	0.96
R0027:Mon2	UTSW	10	122,871,953 (GRCm39)	missense	possibly damaging	0.66
R0027:Mon2	UTSW	10	122,871,953 (GRCm39)	missense	possibly damaging	0.66
R0145:Mon2	UTSW	10	122,849,417 (GRCm39)	missense	possibly damaging	0.94
R0390:Mon2	UTSW	10	122,842,926 (GRCm39)	missense	probably null	0.05
R0481:Mon2	UTSW	10	122,849,301 (GRCm39)	missense	possibly damaging	0.94
R0513:Mon2	UTSW	10	122,874,515 (GRCm39)	missense	probably damaging	1.00
R0599:Mon2	UTSW	10	122,861,970 (GRCm39)	splice site	probably benign
R1226:Mon2	UTSW	10	122,838,724 (GRCm39)	missense	probably benign	0.17
R1548:Mon2	UTSW	10	122,871,912 (GRCm39)	splice site	probably benign
R1598:Mon2	UTSW	10	122,852,301 (GRCm39)	missense	probably damaging	1.00
R1650:Mon2	UTSW	10	122,831,682 (GRCm39)	missense	probably benign	0.45
R1687:Mon2	UTSW	10	122,862,029 (GRCm39)	missense	probably damaging	0.98
R1721:Mon2	UTSW	10	122,867,002 (GRCm39)	missense	probably damaging	0.98
R1768:Mon2	UTSW	10	122,849,668 (GRCm39)	missense	probably benign	0.00
R1827:Mon2	UTSW	10	122,882,216 (GRCm39)	missense	probably damaging	0.97
R1879:Mon2	UTSW	10	122,838,790 (GRCm39)	missense	probably damaging	1.00
R1954:Mon2	UTSW	10	122,874,388 (GRCm39)	missense	probably damaging	1.00
R1955:Mon2	UTSW	10	122,874,388 (GRCm39)	missense	probably damaging	1.00
R1968:Mon2	UTSW	10	122,845,470 (GRCm39)	missense	probably damaging	1.00
R2060:Mon2	UTSW	10	122,831,681 (GRCm39)	missense	probably damaging	1.00
R2160:Mon2	UTSW	10	122,911,834 (GRCm39)	nonsense	probably null
R2165:Mon2	UTSW	10	122,878,269 (GRCm39)	splice site	probably null
R3737:Mon2	UTSW	10	122,849,280 (GRCm39)	missense	probably damaging	1.00
R3814:Mon2	UTSW	10	122,849,470 (GRCm39)	missense	probably damaging	0.98
R4058:Mon2	UTSW	10	122,838,724 (GRCm39)	missense	probably benign	0.17
R4091:Mon2	UTSW	10	122,874,415 (GRCm39)	missense	probably damaging	1.00
R4214:Mon2	UTSW	10	122,852,397 (GRCm39)	missense	probably benign	0.03
R4354:Mon2	UTSW	10	122,862,888 (GRCm39)	missense	probably benign	0.02
R4422:Mon2	UTSW	10	122,878,887 (GRCm39)	missense	probably damaging	1.00
R4505:Mon2	UTSW	10	122,845,494 (GRCm39)	missense	probably damaging	0.99
R4791:Mon2	UTSW	10	122,841,962 (GRCm39)	missense	probably benign	0.01
R4797:Mon2	UTSW	10	122,852,422 (GRCm39)	missense	probably benign	0.45
R4944:Mon2	UTSW	10	122,874,364 (GRCm39)	critical splice donor site	probably null
R4982:Mon2	UTSW	10	122,831,694 (GRCm39)	missense	probably damaging	1.00
R5298:Mon2	UTSW	10	122,846,511 (GRCm39)	missense	probably benign
R5503:Mon2	UTSW	10	122,868,550 (GRCm39)	missense	possibly damaging	0.54
R5653:Mon2	UTSW	10	122,861,999 (GRCm39)	missense	probably damaging	0.96
R5687:Mon2	UTSW	10	122,844,144 (GRCm39)	missense	probably damaging	0.99
R5838:Mon2	UTSW	10	122,846,397 (GRCm39)	critical splice donor site	probably null
R6108:Mon2	UTSW	10	122,868,600 (GRCm39)	missense	probably benign	0.00
R6182:Mon2	UTSW	10	122,874,564 (GRCm39)	splice site	probably null
R6355:Mon2	UTSW	10	122,858,825 (GRCm39)	missense	possibly damaging	0.58
R6358:Mon2	UTSW	10	122,849,409 (GRCm39)	missense	probably damaging	0.98
R6548:Mon2	UTSW	10	122,871,998 (GRCm39)	missense	probably damaging	1.00
R6557:Mon2	UTSW	10	122,852,307 (GRCm39)	missense	probably damaging	1.00
R6649:Mon2	UTSW	10	122,874,385 (GRCm39)	missense	possibly damaging	0.46
R7140:Mon2	UTSW	10	122,871,358 (GRCm39)	missense	probably benign	0.00
R7303:Mon2	UTSW	10	122,874,364 (GRCm39)	critical splice donor site	probably null
R7317:Mon2	UTSW	10	122,849,851 (GRCm39)	missense	probably damaging	0.97
R7355:Mon2	UTSW	10	122,845,421 (GRCm39)	missense	probably benign
R7508:Mon2	UTSW	10	122,859,844 (GRCm39)	missense	probably damaging	1.00
R7509:Mon2	UTSW	10	122,868,457 (GRCm39)	missense	probably benign
R7647:Mon2	UTSW	10	122,841,931 (GRCm39)	missense	probably benign
R7720:Mon2	UTSW	10	122,868,493 (GRCm39)	missense	probably benign	0.00
R7801:Mon2	UTSW	10	122,895,091 (GRCm39)	critical splice donor site	probably null
R7823:Mon2	UTSW	10	122,868,559 (GRCm39)	missense	probably damaging	1.00
R7985:Mon2	UTSW	10	122,852,213 (GRCm39)	missense	probably damaging	1.00
R8310:Mon2	UTSW	10	122,838,688 (GRCm39)	missense	probably damaging	1.00
R8810:Mon2	UTSW	10	122,845,516 (GRCm39)	missense	possibly damaging	0.94
R8825:Mon2	UTSW	10	122,849,776 (GRCm39)	missense	probably benign	0.00
R8937:Mon2	UTSW	10	122,895,110 (GRCm39)	missense	probably benign
R8978:Mon2	UTSW	10	122,871,469 (GRCm39)	nonsense	probably null
R9011:Mon2	UTSW	10	122,862,213 (GRCm39)	missense	possibly damaging	0.95
R9213:Mon2	UTSW	10	122,872,016 (GRCm39)	nonsense	probably null
R9358:Mon2	UTSW	10	122,868,452 (GRCm39)	missense	probably benign	0.00
R9630:Mon2	UTSW	10	122,874,415 (GRCm39)	missense	probably damaging	1.00
X0022:Mon2	UTSW	10	122,842,007 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CTCCGCTCTAAAGCCTAAGG -3'
(R):5'- GGGGCTTACTAATCTACTGCG -3'

Sequencing Primer
(F):5'- CACCGCATCTTCTAATATGGAGG -3'
(R):5'- GGGCTTACTAATCTACTGCGTGTAC -3'

Posted On

2019-11-26