Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Impdh2'

559053

Institutional Source

Beutler Lab

Gene Symbol

Impdh2

Ensembl Gene

ENSMUSG00000062867

Gene Name

inosine monophosphate dehydrogenase 2

Synonyms

IMP dehydrogenase type II

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108560286-108565584 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108563208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 231 (R231H)

Ref Sequence

ENSEMBL: ENSMUSP00000079888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000112155] [ENSMUST00000193421] [ENSMUST00000194381] [ENSMUST00000194904]

AlphaFold

P24547

Predicted Effect

probably benign
Transcript: ENSMUST00000006851

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	597	761	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074208

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

Domain	Start	End	E-Value	Type
Pfam:DUF498	61	169	9.3e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081111
AA Change: R231H

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: R231H

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112155

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	600	760	2.3e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193421
AA Change: R206H

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

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: R206H

Domain	Start	End	E-Value	Type
IMPDH	28	248	1.3e-18	SMART
CBS	92	143	4.5e-9	SMART
CBS	159	207	7.6e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

Predicted Effect

probably damaging
Transcript: ENSMUST00000194904
AA Change: R25H

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

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
AA Change: R25H

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities resulting in embryonic lethality around the time of implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly damaging	Het

Other mutations in Impdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0032:Impdh2	UTSW	9	108561661	missense	probably damaging	1.00
R0523:Impdh2	UTSW	9	108561819	splice site	probably null
R0523:Impdh2	UTSW	9	108561820	missense	possibly damaging	0.80
R0644:Impdh2	UTSW	9	108563637	missense	possibly damaging	0.56
R0648:Impdh2	UTSW	9	108563466	missense	probably benign	0.01
R0905:Impdh2	UTSW	9	108561097	unclassified	probably benign
R1173:Impdh2	UTSW	9	108561829	missense	probably benign	0.19
R1202:Impdh2	UTSW	9	108563187	missense	probably damaging	1.00
R1441:Impdh2	UTSW	9	108564776	missense	probably benign	0.12
R1818:Impdh2	UTSW	9	108563212	splice site	probably null
R2141:Impdh2	UTSW	9	108565347	missense	possibly damaging	0.50
R2173:Impdh2	UTSW	9	108565394	splice site	probably null
R2438:Impdh2	UTSW	9	108560616	missense	probably benign	0.06
R4061:Impdh2	UTSW	9	108562804	missense	possibly damaging	0.46
R4273:Impdh2	UTSW	9	108564956	missense	probably damaging	1.00
R4847:Impdh2	UTSW	9	108564671	missense	probably damaging	1.00
R4847:Impdh2	UTSW	9	108565515	missense	probably benign	0.00
R5073:Impdh2	UTSW	9	108563336	critical splice donor site	probably null
R5896:Impdh2	UTSW	9	108563966	missense	probably benign	0.06
R6315:Impdh2	UTSW	9	108563439	missense	possibly damaging	0.66
R7172:Impdh2	UTSW	9	108560610	missense	probably benign	0.00
R7241:Impdh2	UTSW	9	108563437	missense	possibly damaging	0.78
R7640:Impdh2	UTSW	9	108565181	missense	possibly damaging	0.84
R7969:Impdh2	UTSW	9	108562306	nonsense	probably null
R8079:Impdh2	UTSW	9	108563325	missense	probably benign	0.01
R8728:Impdh2	UTSW	9	108560363	unclassified	probably benign
R8735:Impdh2	UTSW	9	108564779	critical splice donor site	probably null
R8821:Impdh2	UTSW	9	108564758	missense	probably damaging	0.99
R8831:Impdh2	UTSW	9	108564758	missense	probably damaging	0.99
R9355:Impdh2	UTSW	9	108565203	missense	probably benign	0.35
R9697:Impdh2	UTSW	9	108561648	missense	possibly damaging	0.86
X0066:Impdh2	UTSW	9	108561787	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CTGGCCTACAAGGTGGAAAG -3'
(R):5'- GGCAATCACCTCATTAAGTCCTG -3'

Sequencing Primer
(F):5'- TCACTCTATAGACCAGGCTGG -3'
(R):5'- TGCCTTATTTATAATGCAGCTTACC -3'

Posted On

2019-06-26