Mutagenetix > Incidental Mutation

Incidental Mutation 'R8414:Prpsap1'

652848

Institutional Source

Beutler Lab

Gene Symbol

Prpsap1

Ensembl Gene

ENSMUSG00000015869

Gene Name

phosphoribosyl pyrophosphate synthetase-associated protein 1

Synonyms

PAP39, 5730409F23Rik

MMRRC Submission

067768-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8414 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116361671-116385461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116369439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 164 (L164H)

Ref Sequence

ENSEMBL: ENSMUSP00000101999 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000106391
AA Change: L164H

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

SMART Domains

Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: L164H

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

probably damaging
Transcript: ENSMUST00000135196
AA Change: L169H

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

SMART Domains

Protein: ENSMUSP00000119576
Gene: ENSMUSG00000015869
AA Change: L169H

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

probably damaging
Transcript: ENSMUST00000152496
AA Change: L128H

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

SMART Domains

Protein: ENSMUSP00000115982
Gene: ENSMUSG00000015869
AA Change: L128H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,480,237 (GRCm39)	Y33H	probably damaging	Het
Abcc10	T	C	17: 46,623,273 (GRCm39)	R880G	probably benign	Het
Abcg2	T	A	6: 58,646,221 (GRCm39)	Y246N	probably benign	Het
Abhd18	A	G	3: 40,888,061 (GRCm39)	M302V	probably benign	Het
Ablim2	A	G	5: 36,032,235 (GRCm39)	D568G	possibly damaging	Het
Alpk2	T	C	18: 65,440,542 (GRCm39)	R284G	possibly damaging	Het
AU021092	T	C	16: 5,034,649 (GRCm39)	Y191C	probably damaging	Het
Bdp1	T	A	13: 100,200,985 (GRCm39)	T751S	probably benign	Het
Brme1	A	T	8: 84,893,952 (GRCm39)	E373V	probably damaging	Het
Ccdc136	A	G	6: 29,412,929 (GRCm39)	E438G	probably damaging	Het
Cul2	C	A	18: 3,399,912 (GRCm39)	N15K	probably benign	Het
Eml2	C	A	7: 18,913,220 (GRCm39)	Q73K	probably damaging	Het
Epha6	C	A	16: 59,826,030 (GRCm39)	R588S	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fbxw28	C	T	9: 109,155,604 (GRCm39)	W389*	probably null	Het
Fcgbpl1	T	A	7: 27,842,158 (GRCm39)	C698S	probably damaging	Het
Gbp4	A	T	5: 105,284,703 (GRCm39)	V62E	probably benign	Het
Gtf2h1	C	A	7: 46,464,768 (GRCm39)	T401K	possibly damaging	Het
Hif1a	G	T	12: 73,984,428 (GRCm39)	M294I	probably benign	Het
Irak2	A	G	6: 113,663,903 (GRCm39)	N484S	probably benign	Het
Kcnj16	A	G	11: 110,916,441 (GRCm39)	T368A	probably benign	Het
Kcnq1	G	A	7: 142,917,403 (GRCm39)	G588D	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Nckap5	T	G	1: 125,942,357 (GRCm39)	E1582D	probably damaging	Het
Nrip3	A	G	7: 109,362,735 (GRCm39)	I183T	possibly damaging	Het
Or10g9	T	A	9: 39,912,241 (GRCm39)	H94L	probably benign	Het
Or4c117	A	G	2: 88,956,058 (GRCm39)	F6L	probably benign	Het
Pcdha2	C	T	18: 37,074,619 (GRCm39)	S750L	probably damaging	Het
Pik3r2	T	C	8: 71,223,079 (GRCm39)	Y447C	probably damaging	Het
Poteg	T	C	8: 27,938,068 (GRCm39)	Y75H	probably benign	Het
Proser1	G	C	3: 53,385,977 (GRCm39)	G620R	probably damaging	Het
Rfc3	A	T	5: 151,568,381 (GRCm39)	V195E	possibly damaging	Het
Sarm1	A	T	11: 78,378,794 (GRCm39)	V417D	probably damaging	Het
She	A	G	3: 89,739,174 (GRCm39)	T122A	probably benign	Het
Spata31e1	A	G	13: 49,941,273 (GRCm39)	S56P	probably damaging	Het
Srpra	A	G	9: 35,126,133 (GRCm39)	E442G	probably benign	Het
Sult2a6	T	A	7: 13,984,357 (GRCm39)	R124S	probably damaging	Het
Synm	T	C	7: 67,383,511 (GRCm39)	T1384A	probably benign	Het
Tenm3	A	G	8: 48,746,544 (GRCm39)	V1087A	probably damaging	Het
Ticam1	T	A	17: 56,578,340 (GRCm39)	I252L	probably benign	Het
Trbv31	C	A	6: 41,534,697 (GRCm39)	D89Y	possibly damaging	Het
Trpc7	G	A	13: 56,970,282 (GRCm39)	T434I	probably benign	Het
Tubgcp4	T	A	2: 121,024,634 (GRCm39)	I603N	probably benign	Het
Ugt3a1	A	G	15: 9,310,669 (GRCm39)	N317S	possibly damaging	Het
Vdac1	C	T	11: 52,267,330 (GRCm39)	T77I	possibly damaging	Het
Vmn2r113	A	T	17: 23,177,753 (GRCm39)	R846*	probably null	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zranb2	G	T	3: 157,252,312 (GRCm39)	R310S	unknown	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
R3417: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
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'- TTCCATACTGAACTCTGATGCC -3'
(R):5'- GTCAGCTTCTTCATCCGTGG -3'

Sequencing Primer
(F):5'- TCTGATGCCAGGGAAAACC -3'
(R):5'- CCCTGAAGACTAACAGTAGCGTTTG -3'

Posted On

2020-10-20