Mutagenetix > Incidental Mutation

Incidental Mutation 'R3417:Prpsap1'

266857

Institutional Source

Beutler Lab

Gene Symbol

Prpsap1

Ensembl Gene

ENSMUSG00000015869

Gene Name

phosphoribosyl pyrophosphate synthetase-associated protein 1

Synonyms

PAP39, 5730409F23Rik

MMRRC Submission

040635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116361671-116385461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116369410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 179 (S179G)

Ref Sequence

ENSEMBL: ENSMUSP00000119576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106391] [ENSMUST00000135196] [ENSMUST00000152496]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106391
AA Change: S174G

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

SMART Domains

Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: S174G

Domain	Start	End	E-Value	Type
low complexity region	5	34	N/A	INTRINSIC
Pfam:Pribosyltran_N	38	155	4.8e-41	PFAM
Pfam:Pribosyl_synth	196	379	1.1e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130835

Predicted Effect

probably benign
Transcript: ENSMUST00000135196
AA Change: S179G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119576
Gene: ENSMUSG00000015869
AA Change: S179G

Domain	Start	End	E-Value	Type
low complexity region	5	34	N/A	INTRINSIC
Pfam:Pribosyltran_N	38	160	2.9e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142480

Predicted Effect

probably benign
Transcript: ENSMUST00000152496
AA Change: S138G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115982
Gene: ENSMUSG00000015869
AA Change: S138G

Domain	Start	End	E-Value	Type
Pfam:Pribosyltran_N	17	119	1.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152874

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,224,302 (GRCm39)		probably benign	Het
Adgrl2	T	C	3: 148,564,965 (GRCm39)	Y201C	probably damaging	Het
Ankar	A	G	1: 72,698,135 (GRCm39)		probably null	Het
Ankrd17	G	A	5: 90,391,772 (GRCm39)	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829 (GRCm39)		probably benign	Het
Cep170	G	T	1: 176,583,610 (GRCm39)	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,575,457 (GRCm39)	R44*	probably null	Het
Col6a1	C	T	10: 76,548,203 (GRCm39)	V618M	unknown	Het
Crmp1	A	T	5: 37,426,031 (GRCm39)	I159L	possibly damaging	Het
Crocc	G	A	4: 140,773,758 (GRCm39)	T103I	possibly damaging	Het
Cyp4f39	T	C	17: 32,708,716 (GRCm39)	V421A	possibly damaging	Het
Ero1a	T	C	14: 45,525,323 (GRCm39)	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,867,547 (GRCm39)	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,816,854 (GRCm39)	V4196I	possibly damaging	Het
Icosl	A	T	10: 77,907,869 (GRCm39)	N143I	possibly damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Irag1	T	C	7: 110,476,161 (GRCm39)	T597A	possibly damaging	Het
Jrk	A	G	15: 74,578,734 (GRCm39)	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,515,715 (GRCm39)	L113P	probably damaging	Het
Klhl42	G	A	6: 147,009,378 (GRCm39)	V406M	probably damaging	Het
Lrp12	A	G	15: 39,741,678 (GRCm39)	F365L	probably damaging	Het
Lrrc37	A	T	11: 103,505,435 (GRCm39)	S2178T	possibly damaging	Het
Map4k5	A	T	12: 69,856,038 (GRCm39)	V716E	probably damaging	Het
Mcm9	T	C	10: 53,413,503 (GRCm39)	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,143,444 (GRCm39)	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,202,281 (GRCm39)	R148L	probably damaging	Het
Mterf1a	A	G	5: 3,940,795 (GRCm39)	S358P	probably damaging	Het
Myd88	T	C	9: 119,166,556 (GRCm39)	I253V	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nqo2	G	T	13: 34,163,616 (GRCm39)	V92L	probably benign	Het
Or4k2	T	A	14: 50,424,069 (GRCm39)	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,608,216 (GRCm39)	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,795,235 (GRCm39)	F667S	probably damaging	Het
Plxnb1	C	A	9: 108,929,828 (GRCm39)	A228E	probably damaging	Het
Rtl4	C	T	X: 143,902,901 (GRCm39)	Q108*	probably null	Het
Scn8a	A	G	15: 100,869,549 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549 (GRCm39)	V519I	probably benign	Het
Smg1	G	C	7: 117,748,076 (GRCm39)		probably benign	Het
Sptlc2	A	G	12: 87,393,582 (GRCm39)		probably benign	Het
St13	A	T	15: 81,253,651 (GRCm39)		probably benign	Het
Strbp	C	G	2: 37,480,737 (GRCm39)	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,732,601 (GRCm39)	R303S	probably benign	Het
Tex55	A	C	16: 38,649,102 (GRCm39)	D2E	probably benign	Het
Tgm3	G	A	2: 129,889,692 (GRCm39)	V629M	possibly damaging	Het
Tnr	T	C	1: 159,722,612 (GRCm39)	V1019A	probably benign	Het
Ttn	A	T	2: 76,615,908 (GRCm39)	C14932*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het

Other mutations in Prpsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0042:Prpsap1	UTSW	11	116,370,482 (GRCm39)	missense	probably benign	0.42
R0684:Prpsap1	UTSW	11	116,362,317 (GRCm39)	missense	probably damaging	1.00
R1538:Prpsap1	UTSW	11	116,370,534 (GRCm39)	missense	probably benign	0.09
R2429:Prpsap1	UTSW	11	116,363,061 (GRCm39)	missense	probably damaging	1.00
R3415:Prpsap1	UTSW	11	116,369,410 (GRCm39)	missense	probably benign	0.01
R4035:Prpsap1	UTSW	11	116,363,834 (GRCm39)	missense	probably benign	0.17
R5223:Prpsap1	UTSW	11	116,378,974 (GRCm39)	missense	probably benign	0.09
R6216:Prpsap1	UTSW	11	116,362,239 (GRCm39)	missense	probably damaging	1.00
R6875:Prpsap1	UTSW	11	116,362,264 (GRCm39)	missense	probably damaging	1.00
R7086:Prpsap1	UTSW	11	116,368,109 (GRCm39)	missense	probably benign
R7159:Prpsap1	UTSW	11	116,384,870 (GRCm39)	missense	probably benign	0.26
R7999:Prpsap1	UTSW	11	116,381,042 (GRCm39)	start codon destroyed	probably null
R8414:Prpsap1	UTSW	11	116,369,439 (GRCm39)	missense	probably damaging	1.00
R8940:Prpsap1	UTSW	11	116,370,615 (GRCm39)	missense	probably damaging	0.98
R9364:Prpsap1	UTSW	11	116,385,015 (GRCm39)	start gained	probably benign
Z1176:Prpsap1	UTSW	11	116,370,594 (GRCm39)	missense	possibly damaging	0.89
Z1176:Prpsap1	UTSW	11	116,369,444 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- CCCTCCATAACTAAGCGCTG -3'
(R):5'- AGTAGCGTTTGTGCCCCTAG -3'

Sequencing Primer
(F):5'- CTATCCGGCCGTGGTGG -3'
(R):5'- TGTGCCCCTAGTTCACGGTG -3'

Posted On

2015-02-18