Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Impdh2'

558356

Institutional Source

Beutler Lab

Gene Symbol

Impdh2

Ensembl Gene

ENSMUSG00000062867

Gene Name

inosine monophosphate dehydrogenase 2

Synonyms

IMP dehydrogenase type II

MMRRC Submission

045264-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108437635-108442776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108437809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 26 (C26F)

Ref Sequence

ENSEMBL: ENSMUSP00000079888 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000081111
AA Change: C26F

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

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: C26F

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 benign
Transcript: ENSMUST00000193421
AA Change: C26F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867
AA Change: C26F

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: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

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

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	Het

Other mutations in Impdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0032:Impdh2	UTSW	9	108,438,860 (GRCm39)	missense	probably damaging	1.00
R0523:Impdh2	UTSW	9	108,439,019 (GRCm39)	missense	possibly damaging	0.80
R0523:Impdh2	UTSW	9	108,439,018 (GRCm39)	splice site	probably null
R0644:Impdh2	UTSW	9	108,440,836 (GRCm39)	missense	possibly damaging	0.56
R0648:Impdh2	UTSW	9	108,440,665 (GRCm39)	missense	probably benign	0.01
R0905:Impdh2	UTSW	9	108,438,296 (GRCm39)	unclassified	probably benign
R1173:Impdh2	UTSW	9	108,439,028 (GRCm39)	missense	probably benign	0.19
R1202:Impdh2	UTSW	9	108,440,386 (GRCm39)	missense	probably damaging	1.00
R1441:Impdh2	UTSW	9	108,441,975 (GRCm39)	missense	probably benign	0.12
R1818:Impdh2	UTSW	9	108,440,411 (GRCm39)	splice site	probably null
R2141:Impdh2	UTSW	9	108,442,546 (GRCm39)	missense	possibly damaging	0.50
R2173:Impdh2	UTSW	9	108,442,593 (GRCm39)	splice site	probably null
R2438:Impdh2	UTSW	9	108,437,815 (GRCm39)	missense	probably benign	0.06
R4061:Impdh2	UTSW	9	108,440,003 (GRCm39)	missense	possibly damaging	0.46
R4273:Impdh2	UTSW	9	108,442,155 (GRCm39)	missense	probably damaging	1.00
R4847:Impdh2	UTSW	9	108,442,714 (GRCm39)	missense	probably benign	0.00
R4847:Impdh2	UTSW	9	108,441,870 (GRCm39)	missense	probably damaging	1.00
R5073:Impdh2	UTSW	9	108,440,535 (GRCm39)	critical splice donor site	probably null
R5896:Impdh2	UTSW	9	108,441,165 (GRCm39)	missense	probably benign	0.06
R6315:Impdh2	UTSW	9	108,440,638 (GRCm39)	missense	possibly damaging	0.66
R7182:Impdh2	UTSW	9	108,440,407 (GRCm39)	missense	possibly damaging	0.56
R7241:Impdh2	UTSW	9	108,440,636 (GRCm39)	missense	possibly damaging	0.78
R7640:Impdh2	UTSW	9	108,442,380 (GRCm39)	missense	possibly damaging	0.84
R7969:Impdh2	UTSW	9	108,439,505 (GRCm39)	nonsense	probably null
R8079:Impdh2	UTSW	9	108,440,524 (GRCm39)	missense	probably benign	0.01
R8728:Impdh2	UTSW	9	108,437,562 (GRCm39)	unclassified	probably benign
R8735:Impdh2	UTSW	9	108,441,978 (GRCm39)	critical splice donor site	probably null
R8821:Impdh2	UTSW	9	108,441,957 (GRCm39)	missense	probably damaging	0.99
R8831:Impdh2	UTSW	9	108,441,957 (GRCm39)	missense	probably damaging	0.99
R9355:Impdh2	UTSW	9	108,442,402 (GRCm39)	missense	probably benign	0.35
R9697:Impdh2	UTSW	9	108,438,847 (GRCm39)	missense	possibly damaging	0.86
X0066:Impdh2	UTSW	9	108,438,986 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGTTTATATTGGCGCGGTCC -3'
(R):5'- GAACTGTGTCTCACGACTCAAG -3'

Sequencing Primer
(F):5'- GGTCCGGACGGCAGAGG -3'
(R):5'- CCCTGCTTCACATATGTCGAAGTTAG -3'

Posted On

2019-06-26