Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Insm2'

311144

Institutional Source

Beutler Lab

Gene Symbol

Insm2

Ensembl Gene

ENSMUSG00000045440

Gene Name

insulinoma-associated 2

Synonyms

mlt 1

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

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

Stock #

R3978 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

55646212-55648818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55647623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 456 (Y456H)

Ref Sequence

ENSEMBL: ENSMUSP00000061046 (fasta)

Gene Model

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

AlphaFold

Q9JMC2

Predicted Effect

probably benign
Transcript: ENSMUST00000051857
AA Change: Y456H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: Y456H

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,435 (GRCm39)	T61A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Eif3i	T	C	4: 129,486,129 (GRCm39)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,727,239 (GRCm39)	D110N	probably benign	Het
Slc26a3	T	A	12: 31,515,859 (GRCm39)		probably null	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,285 (GRCm39)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	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
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
R5154:Insm2	UTSW	12	55,646,982 (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'- TGCACCAACTCCGGGTTTTG -3'
(R):5'- AAGAGAGTCCCACAGGAGTTC -3'

Sequencing Primer
(F):5'- CAACTCCGGGTTTTGGCTCG -3'
(R):5'- TCCCACAGGAGTTCCCGTATG -3'

Posted On

2015-04-29