Mutagenetix > Incidental Mutation

Incidental Mutation 'R4165:Prap1'

321693

Institutional Source

Beutler Lab

Gene Symbol

Prap1

Ensembl Gene

ENSMUSG00000025467

Gene Name

proline-rich acidic protein 1

Synonyms

Upa

MMRRC Submission

041007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139673308-139677113 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139676091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 35 (V35E)

Ref Sequence

ENSEMBL: ENSMUSP00000026540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026539] [ENSMUST00000026540] [ENSMUST00000120034] [ENSMUST00000121115] [ENSMUST00000148716] [ENSMUST00000142105]

AlphaFold

Q80XD8

Predicted Effect

probably benign
Transcript: ENSMUST00000026539

SMART Domains

Protein: ENSMUSP00000026539
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	148	1.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026540
AA Change: V35E

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026540
Gene: ENSMUSG00000025467
AA Change: V35E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PRAP	100	144	1.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120034

SMART Domains

Protein: ENSMUSP00000112429
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	134	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121115

SMART Domains

Protein: ENSMUSP00000112970
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	117	9.1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125421

Predicted Effect

probably benign
Transcript: ENSMUST00000128527

SMART Domains

Protein: ENSMUSP00000118717
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	1	105	4.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133834

Predicted Effect

probably benign
Transcript: ENSMUST00000211677

Predicted Effect

probably benign
Transcript: ENSMUST00000148716

SMART Domains

Protein: ENSMUSP00000120353
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	5	133	7.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142105

SMART Domains

Protein: ENSMUSP00000115799
Gene: ENSMUSG00000025466

Domain	Start	End	E-Value	Type
Pfam:RbsD_FucU	1	134	3e-36	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

97% (38/39)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibited an increased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. The mutants also exhibited increased mean serum immunoglobulin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Alg11	T	C	8: 22,555,573 (GRCm39)	V278A	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Avil	C	T	10: 126,842,496 (GRCm39)	Q92*	probably null	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
CK137956	A	T	4: 127,864,522 (GRCm39)	S36T	possibly damaging	Het
Epb41l3	T	C	17: 69,514,883 (GRCm39)	S7P	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,895 (GRCm39)		noncoding transcript	Het
Igkv15-103	G	T	6: 68,414,824 (GRCm39)	G88*	probably null	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Larp7	A	G	3: 127,330,611 (GRCm39)	Y569H	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Nr1d2	T	C	14: 18,215,446 (GRCm38)	I189V	probably benign	Het
Odad2	A	T	18: 7,217,008 (GRCm39)	I668K	probably damaging	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prdm1	T	A	10: 44,317,572 (GRCm39)	Y417F	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rps3	T	C	7: 99,132,816 (GRCm39)	I5V	probably benign	Het
Sema3a	A	T	5: 13,523,364 (GRCm39)		probably null	Het
Serpina3g	A	T	12: 104,206,546 (GRCm39)	T116S	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc22a28	A	G	19: 8,040,773 (GRCm39)	S493P	possibly damaging	Het
Snapc1	G	T	12: 74,029,354 (GRCm39)		probably null	Het
Sobp	C	T	10: 42,897,644 (GRCm39)	G647D	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trappc11	T	C	8: 47,978,003 (GRCm39)		probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Vmn2r16	T	C	5: 109,478,427 (GRCm39)	F61L	possibly damaging	Het
Zfp709	C	T	8: 72,644,649 (GRCm39)	Q693*	probably null	Het

Other mutations in Prap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0060:Prap1	UTSW	7	139,673,390 (GRCm39)	unclassified	probably benign
R2254:Prap1	UTSW	7	139,676,075 (GRCm39)	missense	probably damaging	0.96
R6833:Prap1	UTSW	7	139,674,995 (GRCm39)	missense	possibly damaging	0.89
R7527:Prap1	UTSW	7	139,676,120 (GRCm39)	splice site	probably null
R8808:Prap1	UTSW	7	139,676,982 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGCAATTTGGGAACAGG -3'
(R):5'- ATCTGGAAAATGGCCTGTGGTC -3'

Sequencing Primer
(F):5'- ACAGGCTGGTGTCCTAAATC -3'
(R):5'- AATGGCCTGTGGTCCCTGC -3'

Posted On

2015-06-12