Mutagenetix > Incidental Mutation

Incidental Mutation 'R5407:Gmpr2'

426350

Institutional Source

Beutler Lab

Gene Symbol

Gmpr2

Ensembl Gene

ENSMUSG00000002326

Gene Name

guanosine monophosphate reductase 2

Synonyms

5730544D12Rik, 1810008P16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R5407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55909398-55916657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55915733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 304 (T304A)

Ref Sequence

ENSEMBL: ENSMUSP00000002397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227914] [ENSMUST00000227873] [ENSMUST00000227842] [ENSMUST00000227178]

AlphaFold

Q99L27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002397
AA Change: T304A

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326
AA Change: T304A

Domain	Start	End	E-Value	Type
IMPDH	8	347	7.5e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000007733

SMART Domains

Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589

Domain	Start	End	E-Value	Type
Pfam:TINF2_N	20	159	1.8e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226787

Predicted Effect

probably benign
Transcript: ENSMUST00000226819

Predicted Effect

probably benign
Transcript: ENSMUST00000227914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228264

Predicted Effect

probably benign
Transcript: ENSMUST00000227873

Predicted Effect

probably benign
Transcript: ENSMUST00000227842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228683

Predicted Effect

probably benign
Transcript: ENSMUST00000227178

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,396,895 (GRCm39)	K279R	probably benign	Het
Aldoart2	A	C	12: 55,612,981 (GRCm39)	Y302S	probably damaging	Het
Arpp21	G	T	9: 111,945,821 (GRCm39)		probably benign	Het
Camk1g	C	T	1: 193,029,680 (GRCm39)		probably null	Het
Cand2	G	A	6: 115,762,161 (GRCm39)	V196I	possibly damaging	Het
Cdc25b	T	A	2: 131,035,567 (GRCm39)	L381Q	probably damaging	Het
Col17a1	C	T	19: 47,654,946 (GRCm39)	G610E	probably damaging	Het
Col19a1	C	T	1: 24,342,575 (GRCm39)	E797K	probably damaging	Het
Col3a1	A	T	1: 45,385,212 (GRCm39)	I110L	probably benign	Het
Col5a2	T	A	1: 45,445,440 (GRCm39)	D506V	possibly damaging	Het
Crp	A	T	1: 172,525,676 (GRCm39)		probably null	Het
Esco1	G	T	18: 10,574,886 (GRCm39)	H729N	probably damaging	Het
Evx2	A	G	2: 74,488,170 (GRCm39)	S217P	probably damaging	Het
Gabrb1	T	C	5: 72,279,364 (GRCm39)	V303A	possibly damaging	Het
Gcnt3	A	G	9: 69,941,471 (GRCm39)	Y366H	probably benign	Het
Golga3	C	T	5: 110,349,856 (GRCm39)	Q656*	probably null	Het
Gramd1b	T	A	9: 40,366,951 (GRCm39)	M6L	probably damaging	Het
Kif17	T	C	4: 138,025,532 (GRCm39)	Y945H	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lrrk1	T	A	7: 65,920,545 (GRCm39)	Q1486L	probably benign	Het
Mboat7	G	T	7: 3,694,380 (GRCm39)	H72N	probably damaging	Het
Med12l	G	A	3: 59,165,622 (GRCm39)	V1447M	probably damaging	Het
Mrpl3	T	C	9: 104,954,294 (GRCm39)	F333L	probably benign	Het
Nav3	T	C	10: 109,702,796 (GRCm39)	T246A	probably benign	Het
Neil3	A	T	8: 54,054,054 (GRCm39)	V325E	probably benign	Het
Nlrp4g	A	T	9: 124,349,930 (GRCm38)		noncoding transcript	Het
Onecut1	C	T	9: 74,796,738 (GRCm39)	S419F	probably damaging	Het
Or10n1	A	T	9: 39,524,991 (GRCm39)	I43F	probably damaging	Het
Ptp4a1	A	T	1: 30,984,044 (GRCm39)	V58E	probably benign	Het
Radil	C	T	5: 142,493,970 (GRCm39)	R49H	probably damaging	Het
Ralgapa1	T	C	12: 55,723,582 (GRCm39)	E1648G	possibly damaging	Het
Rnft2	C	T	5: 118,380,567 (GRCm39)	M13I	probably damaging	Het
Satb2	A	G	1: 56,987,309 (GRCm39)	L92P	probably damaging	Het
Scn4a	T	C	11: 106,211,715 (GRCm39)	Y1434C	probably damaging	Het
Setx	T	A	2: 29,035,486 (GRCm39)	M657K	probably benign	Het
Shd	A	G	17: 56,280,936 (GRCm39)	E204G	probably damaging	Het
Shh	T	A	5: 28,671,578 (GRCm39)	R62*	probably null	Het
Slc9a4	A	G	1: 40,646,954 (GRCm39)	T483A	probably benign	Het
Tbc1d7	A	C	13: 43,308,178 (GRCm39)	S96A	probably benign	Het
Tfcp2	T	C	15: 100,425,755 (GRCm39)		probably null	Het
Tlk2	T	A	11: 105,131,201 (GRCm39)	S182R	probably damaging	Het
Tppp2	A	G	14: 52,156,955 (GRCm39)		probably null	Het
Trim65	T	C	11: 116,016,906 (GRCm39)	T519A	probably benign	Het
Trio	T	C	15: 27,844,892 (GRCm39)		probably null	Het
Usf3	G	A	16: 44,037,769 (GRCm39)	V750I	probably benign	Het
Utrn	T	A	10: 12,556,369 (GRCm39)	K1480N	probably damaging	Het
Vmn1r58	T	A	7: 5,413,872 (GRCm39)	R119S	probably benign	Het
Xirp2	A	G	2: 67,341,313 (GRCm39)	I1185V	probably benign	Het
Zc3h7b	A	G	15: 81,670,092 (GRCm39)	H654R	probably damaging	Het
Zfyve16	G	T	13: 92,636,792 (GRCm39)	A1306E	probably damaging	Het

Other mutations in Gmpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gmpr2	APN	14	55,913,171 (GRCm39)	missense	probably damaging	0.98
IGL00949:Gmpr2	APN	14	55,914,207 (GRCm39)	splice site	probably benign
IGL02348:Gmpr2	APN	14	55,915,758 (GRCm39)	missense	probably damaging	1.00
R0092:Gmpr2	UTSW	14	55,915,402 (GRCm39)	missense	probably benign	0.36
R0197:Gmpr2	UTSW	14	55,910,192 (GRCm39)	missense	possibly damaging	0.83
R0323:Gmpr2	UTSW	14	55,910,203 (GRCm39)	missense	probably damaging	0.99
R0594:Gmpr2	UTSW	14	55,915,445 (GRCm39)	missense	probably damaging	1.00
R1366:Gmpr2	UTSW	14	55,914,200 (GRCm39)	splice site	probably benign
R2904:Gmpr2	UTSW	14	55,910,215 (GRCm39)	missense	probably damaging	1.00
R4996:Gmpr2	UTSW	14	55,914,252 (GRCm39)	missense	probably damaging	0.99
R5695:Gmpr2	UTSW	14	55,914,691 (GRCm39)	missense	possibly damaging	0.77
R6721:Gmpr2	UTSW	14	55,910,191 (GRCm39)	missense	probably damaging	1.00
R7414:Gmpr2	UTSW	14	55,910,259 (GRCm39)	critical splice donor site	probably null
R7623:Gmpr2	UTSW	14	55,910,491 (GRCm39)	missense	probably damaging	0.99
R8181:Gmpr2	UTSW	14	55,910,441 (GRCm39)	nonsense	probably null
R8944:Gmpr2	UTSW	14	55,913,149 (GRCm39)	missense	possibly damaging	0.70
R9487:Gmpr2	UTSW	14	55,915,778 (GRCm39)	missense	probably damaging	0.98
X0025:Gmpr2	UTSW	14	55,912,847 (GRCm39)	missense	probably benign
Z1176:Gmpr2	UTSW	14	55,910,200 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- AAGGCTAGCACCTGAATGTTC -3'
(R):5'- TGCTGCCTCAGGAAAGTAGG -3'

Sequencing Primer
(F):5'- TCCTGGTGACGACTCTATGAAAG -3'
(R):5'- CCTCAGGAAAGTAGGCTTCTTG -3'

Posted On

2016-09-01