Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Upp2'

699106

Institutional Source

Beutler Lab

Gene Symbol

Upp2

Ensembl Gene

ENSMUSG00000026839

Gene Name

uridine phosphorylase 2

Synonyms

UPASE2, UP2, UDRPASE2, 1700124F02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58457310-58682983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58670065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 257 (L257P)

Ref Sequence

ENSEMBL: ENSMUSP00000060437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]

AlphaFold

Q8CGR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000059102
AA Change: L257P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: L257P

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	78	328	6.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071543
AA Change: L277P

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

SMART Domains

Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: L277P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:PNP_UDP_1	98	316	7.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102755
AA Change: L239P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: L239P

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	60	310	4.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229923
AA Change: L239P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230627
AA Change: L205P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 107,931,638 (GRCm39)	A354T	probably damaging	Het
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,165,325 (GRCm39)	K857R	probably benign	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Pias2	T	A	18: 77,216,677 (GRCm39)	V296E	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,732,323 (GRCm39)	A322T	probably benign	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Uggt2	A	G	14: 119,279,006 (GRCm39)	Y834H	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	probably benign	Het

Other mutations in Upp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Upp2	APN	2	58,680,076 (GRCm39)	missense	probably benign	0.43
IGL01716:Upp2	APN	2	58,680,058 (GRCm39)	missense	probably damaging	0.99
IGL02069:Upp2	APN	2	58,661,429 (GRCm39)	splice site	probably benign
IGL02349:Upp2	APN	2	58,667,898 (GRCm39)	missense	probably benign	0.03
IGL03072:Upp2	APN	2	58,645,435 (GRCm39)	critical splice donor site	probably null
R0815:Upp2	UTSW	2	58,661,568 (GRCm39)	missense	probably benign	0.00
R1164:Upp2	UTSW	2	58,653,716 (GRCm39)	missense	probably damaging	1.00
R1400:Upp2	UTSW	2	58,680,118 (GRCm39)	missense	probably damaging	1.00
R1553:Upp2	UTSW	2	58,680,152 (GRCm39)	missense	probably damaging	1.00
R1581:Upp2	UTSW	2	58,664,177 (GRCm39)	missense	possibly damaging	0.93
R1674:Upp2	UTSW	2	58,680,076 (GRCm39)	missense	probably benign	0.43
R1702:Upp2	UTSW	2	58,661,562 (GRCm39)	missense	possibly damaging	0.86
R1902:Upp2	UTSW	2	58,661,464 (GRCm39)	missense	probably damaging	1.00
R2351:Upp2	UTSW	2	58,653,674 (GRCm39)	splice site	probably null
R3011:Upp2	UTSW	2	58,680,107 (GRCm39)	missense	probably damaging	0.97
R3622:Upp2	UTSW	2	58,680,128 (GRCm39)	missense	possibly damaging	0.83
R3623:Upp2	UTSW	2	58,680,128 (GRCm39)	missense	possibly damaging	0.83
R3731:Upp2	UTSW	2	58,645,379 (GRCm39)	missense	probably benign	0.02
R4257:Upp2	UTSW	2	58,670,106 (GRCm39)	missense	probably damaging	1.00
R4296:Upp2	UTSW	2	58,668,021 (GRCm39)	missense	probably damaging	1.00
R4768:Upp2	UTSW	2	58,667,907 (GRCm39)	missense	probably damaging	0.99
R5116:Upp2	UTSW	2	58,661,554 (GRCm39)	missense	probably damaging	1.00
R5638:Upp2	UTSW	2	58,680,107 (GRCm39)	missense	probably damaging	0.97
R7100:Upp2	UTSW	2	58,681,817 (GRCm39)	missense	probably benign
R7421:Upp2	UTSW	2	58,661,586 (GRCm39)	missense	possibly damaging	0.49
R7727:Upp2	UTSW	2	58,664,160 (GRCm39)	missense	possibly damaging	0.95
R7840:Upp2	UTSW	2	58,664,127 (GRCm39)	critical splice acceptor site	probably null
R8033:Upp2	UTSW	2	58,670,071 (GRCm39)	missense	probably damaging	1.00
R8359:Upp2	UTSW	2	58,667,955 (GRCm39)	missense	probably benign	0.05
R8461:Upp2	UTSW	2	58,670,068 (GRCm39)	missense	probably benign	0.02
R8510:Upp2	UTSW	2	58,670,118 (GRCm39)	missense	probably damaging	1.00
R8956:Upp2	UTSW	2	58,457,454 (GRCm39)	unclassified	probably benign
R9086:Upp2	UTSW	2	58,680,177 (GRCm39)	nonsense	probably null
R9099:Upp2	UTSW	2	58,457,542 (GRCm39)	critical splice donor site	probably null
R9130:Upp2	UTSW	2	58,668,020 (GRCm39)	missense	probably damaging	1.00
R9159:Upp2	UTSW	2	58,667,996 (GRCm39)	missense	probably damaging	1.00
R9209:Upp2	UTSW	2	58,668,022 (GRCm39)	nonsense	probably null
R9293:Upp2	UTSW	2	58,457,443 (GRCm39)	missense	unknown
R9343:Upp2	UTSW	2	58,645,339 (GRCm39)	start gained	probably benign
Z1177:Upp2	UTSW	2	58,670,074 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGAGGTCATGTTCTATAGTCC -3'
(R):5'- ATAAAATGTGTTGGGGCCCC -3'

Sequencing Primer
(F):5'- AGGTCATGTTCTATAGTCCTTTAGAG -3'
(R):5'- GTTGGGGCCCCCTCCTTTC -3'

Posted On

2022-02-07