Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Insm2'

396595

Institutional Source

Beutler Lab

Gene Symbol

Insm2

Ensembl Gene

ENSMUSG00000045440

Gene Name

insulinoma-associated 2

Synonyms

mlt 1

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R5154 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

55646212-55648818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55646982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 242 (C242Y)

Ref Sequence

ENSEMBL: ENSMUSP00000061046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051857] [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]

AlphaFold

Q9JMC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051857
AA Change: C242Y

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

SMART Domains

Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: C242Y

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC
low complexity region	61	78	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	119	136	N/A	INTRINSIC
ZnF_C2H2	203	223	1.98e2	SMART
ZnF_C2H2	231	253	7.15e-2	SMART
low complexity region	341	349	N/A	INTRINSIC
ZnF_C2H2	354	376	1.2e-3	SMART
ZnF_C2H2	398	420	1.02e1	SMART
low complexity region	433	448	N/A	INTRINSIC
ZnF_C2H2	452	475	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085385

SMART Domains

Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2003	7.4e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110687

SMART Domains

Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2001	1.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219432

Predicted Effect

probably benign
Transcript: ENSMUST00000219451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219516

Predicted Effect

probably benign
Transcript: ENSMUST00000220367

Predicted Effect

probably benign
Transcript: ENSMUST00000226244

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly damaging	Het

Other mutations in Insm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
hawaii	UTSW	12	55,646,621 (GRCm39)	nonsense	probably null
Luau	UTSW	12	55,646,799 (GRCm39)	missense	probably damaging	1.00
R0646:Insm2	UTSW	12	55,647,225 (GRCm39)	missense	probably benign	0.19
R1166:Insm2	UTSW	12	55,647,281 (GRCm39)	missense	probably benign
R2508:Insm2	UTSW	12	55,647,096 (GRCm39)	missense	probably benign	0.00
R3978:Insm2	UTSW	12	55,647,623 (GRCm39)	missense	probably benign	0.00
R4716:Insm2	UTSW	12	55,647,677 (GRCm39)	missense	possibly damaging	0.93
R4884:Insm2	UTSW	12	55,646,546 (GRCm39)	missense	probably damaging	1.00
R6067:Insm2	UTSW	12	55,646,799 (GRCm39)	missense	probably damaging	1.00
R6078:Insm2	UTSW	12	55,646,799 (GRCm39)	missense	probably damaging	1.00
R6138:Insm2	UTSW	12	55,646,799 (GRCm39)	missense	probably damaging	1.00
R6424:Insm2	UTSW	12	55,646,867 (GRCm39)	missense	probably damaging	1.00
R6969:Insm2	UTSW	12	55,646,963 (GRCm39)	missense	probably damaging	1.00
R7069:Insm2	UTSW	12	55,646,621 (GRCm39)	nonsense	probably null
R7117:Insm2	UTSW	12	55,647,357 (GRCm39)	missense	probably damaging	1.00
R7252:Insm2	UTSW	12	55,647,305 (GRCm39)	missense	probably benign	0.00
R7289:Insm2	UTSW	12	55,647,329 (GRCm39)	missense	probably damaging	0.99
R7537:Insm2	UTSW	12	55,646,303 (GRCm39)	missense	possibly damaging	0.95
R7831:Insm2	UTSW	12	55,647,323 (GRCm39)	missense	probably damaging	1.00
R8224:Insm2	UTSW	12	55,646,763 (GRCm39)	missense	probably damaging	1.00
R8478:Insm2	UTSW	12	55,647,330 (GRCm39)	missense	probably damaging	1.00
R9759:Insm2	UTSW	12	55,647,390 (GRCm39)	missense	possibly damaging	0.49
U15987:Insm2	UTSW	12	55,646,799 (GRCm39)	missense	probably damaging	1.00
Z1088:Insm2	UTSW	12	55,646,582 (GRCm39)	missense	probably damaging	1.00
Z1177:Insm2	UTSW	12	55,647,141 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCGCAGATGAGGTGACCAC -3'
(R):5'- TAGAATCACCTCGGGGTAGG -3'

Sequencing Primer
(F):5'- AGATGAGGTGACCACGTCCC -3'
(R):5'- TCCGGGTACACTAGAGCCTGTAG -3'

Posted On

2016-06-21