Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Pappa'

236589

Institutional Source

Beutler Lab

Gene Symbol

Pappa

Ensembl Gene

ENSMUSG00000028370

Gene Name

pregnancy-associated plasma protein A

Synonyms

IGFBP-4ase, PAPP-A, PAG1, 8430414N03Rik

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65124174-65357509 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 65180949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 568 (Y568*)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084501]

AlphaFold

Q8R4K8

Predicted Effect

probably null
Transcript: ENSMUST00000084501
AA Change: Y568*

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: Y568*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	24	66	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
LamGL	114	263	1.55e-54	SMART
NL	396	438	4.15e-8	SMART
NL	441	471	6.73e-1	SMART
Pfam:Peptidase_M43	500	657	2.5e-10	PFAM
Blast:FN3	669	929	1e-165	BLAST
CCP	1212	1277	1.39e-9	SMART
CCP	1282	1339	1.08e-6	SMART
CCP	1343	1407	1.64e-6	SMART
CCP	1412	1468	8.06e-6	SMART
NL	1544	1581	3.24e-10	SMART
low complexity region	1584	1591	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502		probably null	Het
Ccnk	T	A	12: 108,189,090	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdc123	A	T	2: 5,810,806	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084	F137S	probably damaging	Het
Des	A	G	1: 75,366,804	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337		probably null	Het
Hunk	G	A	16: 90,432,532	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Ints10	A	G	8: 68,796,805	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189		probably null	Het
Mrgpra9	T	C	7: 47,235,463	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168	V660A	probably benign	Het
Myof	A	G	19: 37,981,221		probably null	Het
Myrf	G	A	19: 10,228,674	P126L	probably benign	Het
Nckap1l	C	T	15: 103,475,676	A567V	probably damaging	Het
Nphs1	A	G	7: 30,460,970	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173	S396T	probably benign	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Pik3r6	T	A	11: 68,543,611	L546*	probably null	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395	T215S	unknown	Het
Prss22	A	G	17: 23,994,682	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110	*450Q	probably null	Het
Rere	T	C	4: 150,616,931	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,407,983	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Sin3b	T	C	8: 72,731,265	L203P	probably damaging	Het
Skint6	T	C	4: 113,236,260	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
St7	A	T	6: 17,886,007	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541	V23G	possibly damaging	Het
Trhr	T	C	15: 44,197,183	V33A	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988		probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202	T959A	probably benign	Het

Other mutations in Pappa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Pappa	APN	4	65189316	missense	probably damaging	1.00
IGL01340:Pappa	APN	4	65323872	missense	possibly damaging	0.49
IGL01482:Pappa	APN	4	65156034	missense	probably benign	0.18
IGL01485:Pappa	APN	4	65189299	missense	probably damaging	0.96
IGL01759:Pappa	APN	4	65205158	splice site	probably null
IGL01860:Pappa	APN	4	65205092	missense	possibly damaging	0.50
IGL01990:Pappa	APN	4	65156687	splice site	probably benign
IGL02089:Pappa	APN	4	65156124	missense	possibly damaging	0.75
IGL02153:Pappa	APN	4	65297437	missense	probably damaging	0.96
IGL02184:Pappa	APN	4	65340691	missense	possibly damaging	0.82
IGL02324:Pappa	APN	4	65196808	missense	probably damaging	0.99
IGL02542:Pappa	APN	4	65176281	missense	probably damaging	1.00
IGL02556:Pappa	APN	4	65156626	missense	possibly damaging	0.56
IGL02698:Pappa	APN	4	65181020	missense	probably damaging	1.00
IGL02903:Pappa	APN	4	65261980	missense	probably damaging	1.00
IGL02974:Pappa	APN	4	65204935	missense	probably damaging	1.00
IGL03107:Pappa	APN	4	65204703	missense	probably damaging	1.00
IGL03376:Pappa	APN	4	65196834	missense	probably benign	0.01
caer	UTSW	4	65124891	missense	probably damaging	0.98
Maennel	UTSW	4	65314587	missense	probably benign	0.05
maennelein	UTSW	4	65314796	splice site	probably null
mama	UTSW	4	65204867	missense	possibly damaging	0.94
Revisitation	UTSW	4	65294468	missense	probably damaging	0.96
Sesquester	UTSW	4	65156375	missense	possibly damaging	0.66
untersuchen	UTSW	4	65297257	missense	probably damaging	1.00
IGL02980:Pappa	UTSW	4	65307774	missense	probably benign	0.25
PIT4498001:Pappa	UTSW	4	65316232	missense	probably damaging	1.00
R0077:Pappa	UTSW	4	65307812	missense	probably damaging	1.00
R0390:Pappa	UTSW	4	65351613	splice site	probably null
R0458:Pappa	UTSW	4	65155882	missense	probably damaging	1.00
R0883:Pappa	UTSW	4	65189315	nonsense	probably null
R0946:Pappa	UTSW	4	65314792	critical splice donor site	probably null
R1228:Pappa	UTSW	4	65340689	missense	probably damaging	1.00
R1327:Pappa	UTSW	4	65351603	splice site	probably benign
R1489:Pappa	UTSW	4	65180948	missense	possibly damaging	0.85
R1619:Pappa	UTSW	4	65176229	missense	probably damaging	1.00
R1856:Pappa	UTSW	4	65340743	missense	probably damaging	1.00
R2047:Pappa	UTSW	4	65231141	splice site	probably benign
R2102:Pappa	UTSW	4	65316228	nonsense	probably null
R2127:Pappa	UTSW	4	65297257	missense	probably damaging	1.00
R2143:Pappa	UTSW	4	65180949	nonsense	probably null
R2166:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2167:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2168:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2178:Pappa	UTSW	4	65351687	missense	probably benign	0.00
R2504:Pappa	UTSW	4	65180889	nonsense	probably null
R4043:Pappa	UTSW	4	65314587	missense	probably benign	0.05
R4289:Pappa	UTSW	4	65155863	missense	probably benign	0.19
R4415:Pappa	UTSW	4	65305295	missense	probably benign	0.00
R4529:Pappa	UTSW	4	65231182	missense	probably benign
R4620:Pappa	UTSW	4	65327028	missense	probably benign	0.43
R4657:Pappa	UTSW	4	65314796	splice site	probably null
R4658:Pappa	UTSW	4	65314796	splice site	probably null
R5074:Pappa	UTSW	4	65205128	missense	probably benign	0.15
R5200:Pappa	UTSW	4	65155839	missense	probably damaging	1.00
R5420:Pappa	UTSW	4	65335780	critical splice donor site	probably null
R5469:Pappa	UTSW	4	65205152	missense	probably benign	0.01
R5651:Pappa	UTSW	4	65156352	missense	probably damaging	0.99
R5725:Pappa	UTSW	4	65189410	missense	probably damaging	1.00
R5941:Pappa	UTSW	4	65314593	missense	possibly damaging	0.52
R6002:Pappa	UTSW	4	65297408	missense	probably damaging	0.99
R6252:Pappa	UTSW	4	65189412	missense	probably benign	0.02
R6303:Pappa	UTSW	4	65204654	missense	probably damaging	1.00
R6322:Pappa	UTSW	4	65314659	missense	probably damaging	1.00
R6431:Pappa	UTSW	4	65156464	missense	probably damaging	1.00
R6462:Pappa	UTSW	4	65124891	missense	probably damaging	0.98
R6484:Pappa	UTSW	4	65314659	missense	probably damaging	1.00
R6537:Pappa	UTSW	4	65297282	missense	probably damaging	0.99
R6578:Pappa	UTSW	4	65156137	missense	possibly damaging	0.48
R6704:Pappa	UTSW	4	65204924	missense	probably damaging	1.00
R6789:Pappa	UTSW	4	65181041	missense	probably damaging	1.00
R7023:Pappa	UTSW	4	65351718	missense	probably benign	0.00
R7139:Pappa	UTSW	4	65189450	missense	probably benign	0.30
R7158:Pappa	UTSW	4	65204867	missense	possibly damaging	0.94
R7165:Pappa	UTSW	4	65261873	missense	probably damaging	1.00
R7196:Pappa	UTSW	4	65323891	splice site	probably null
R7410:Pappa	UTSW	4	65335719	missense	probably damaging	1.00
R7457:Pappa	UTSW	4	65189266	missense	probably damaging	1.00
R7506:Pappa	UTSW	4	65231182	missense	probably benign	0.00
R7546:Pappa	UTSW	4	65156115	missense	possibly damaging	0.48
R7975:Pappa	UTSW	4	65294468	missense	probably damaging	0.96
R8111:Pappa	UTSW	4	65261992	missense	probably damaging	0.99
R8260:Pappa	UTSW	4	65316182	missense	probably damaging	0.99
R8347:Pappa	UTSW	4	65327065	missense	probably damaging	1.00
R8520:Pappa	UTSW	4	65335764	missense	probably benign	0.01
R8812:Pappa	UTSW	4	65204929	missense	possibly damaging	0.94
R8815:Pappa	UTSW	4	65181110	missense	probably benign	0.00
R9008:Pappa	UTSW	4	65156189	missense	probably damaging	1.00
R9162:Pappa	UTSW	4	65204803	missense	probably damaging	1.00
R9170:Pappa	UTSW	4	65340725	missense	probably damaging	1.00
R9205:Pappa	UTSW	4	65156375	missense	possibly damaging	0.66
R9336:Pappa	UTSW	4	65124681	missense	unknown
R9389:Pappa	UTSW	4	65180888	missense	probably damaging	1.00
R9781:Pappa	UTSW	4	65124867	missense	possibly damaging	0.89
RF006:Pappa	UTSW	4	65323873	missense	probably benign	0.00
RF020:Pappa	UTSW	4	65205045	missense	possibly damaging	0.77
X0058:Pappa	UTSW	4	65156232	missense	probably damaging	1.00
X0060:Pappa	UTSW	4	65124941	missense	probably benign	0.00
Z1177:Pappa	UTSW	4	65307758	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTCTGACAACCCAGGAACTG -3'
(R):5'- AGCCATGAAAGCCACAAGTG -3'

Sequencing Primer
(F):5'- GTAGACTGTCAGTTTAAGTAAGTAGC -3'
(R):5'- AGCCACAAGTGTCATTCCCTGG -3'

Posted On

2014-10-01