Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Insm2'

615888

Institutional Source

Beutler Lab

Gene Symbol

Insm2

Ensembl Gene

ENSMUSG00000045440

Gene Name

insulinoma-associated 2

Synonyms

mlt 1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7537 (G1)

Quality Score

54.0072

Status

Validated

Chromosome

Chromosomal Location

55599427-55602086 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55599518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 16 (S16P)

Ref Sequence

ENSEMBL: ENSMUSP00000061046 (fasta)

Gene Model

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

AlphaFold

Q9JMC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051857
AA Change: S16P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: S16P

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

probably benign
Transcript: ENSMUST00000220367

Predicted Effect

probably benign
Transcript: ENSMUST00000226244

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Insm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
hawaii	UTSW	12	55599836	nonsense	probably null
Luau	UTSW	12	55600014	missense	probably damaging	1.00
R0646:Insm2	UTSW	12	55600440	missense	probably benign	0.19
R1166:Insm2	UTSW	12	55600496	missense	probably benign
R2508:Insm2	UTSW	12	55600311	missense	probably benign	0.00
R3978:Insm2	UTSW	12	55600838	missense	probably benign	0.00
R4716:Insm2	UTSW	12	55600892	missense	possibly damaging	0.93
R4884:Insm2	UTSW	12	55599761	missense	probably damaging	1.00
R5154:Insm2	UTSW	12	55600197	missense	probably damaging	1.00
R6067:Insm2	UTSW	12	55600014	missense	probably damaging	1.00
R6078:Insm2	UTSW	12	55600014	missense	probably damaging	1.00
R6138:Insm2	UTSW	12	55600014	missense	probably damaging	1.00
R6424:Insm2	UTSW	12	55600082	missense	probably damaging	1.00
R6969:Insm2	UTSW	12	55600178	missense	probably damaging	1.00
R7069:Insm2	UTSW	12	55599836	nonsense	probably null
R7117:Insm2	UTSW	12	55600572	missense	probably damaging	1.00
R7252:Insm2	UTSW	12	55600520	missense	probably benign	0.00
R7289:Insm2	UTSW	12	55600544	missense	probably damaging	0.99
R7831:Insm2	UTSW	12	55600538	missense	probably damaging	1.00
R8224:Insm2	UTSW	12	55599978	missense	probably damaging	1.00
R8478:Insm2	UTSW	12	55600545	missense	probably damaging	1.00
R9759:Insm2	UTSW	12	55600605	missense	possibly damaging	0.49
U15987:Insm2	UTSW	12	55600014	missense	probably damaging	1.00
Z1088:Insm2	UTSW	12	55599797	missense	probably damaging	1.00
Z1177:Insm2	UTSW	12	55600356	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCTCCCACTCCTGATTGG -3'
(R):5'- GGGAAGGACTCCGCAGAGAC -3'

Sequencing Primer
(F):5'- TCCTGATTGGCCGGCACAG -3'
(R):5'- AGGCAGCGCTCCAGGAAC -3'

Posted On

2020-01-08