Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Papln'

298880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

83763634-83792382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83778837 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 631 (P631S)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000121733]

Predicted Effect

probably benign
Transcript: ENSMUST00000021646
AA Change: P609S

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

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: P609S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	3.3e-39	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	366	426	2.76e-7	SMART
TSP1	427	482	1.42e-9	SMART
TSP1	488	540	2.47e-9	SMART
low complexity region	604	621	N/A	INTRINSIC
KU	748	801	1.83e-22	SMART
low complexity region	822	831	N/A	INTRINSIC
IGc2	917	980	2.88e-4	SMART
IGc2	1056	1119	2.66e-17	SMART
IGc2	1145	1209	2.13e-7	SMART
Pfam:PLAC	1234	1268	2.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121733
AA Change: P631S

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

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: P631S

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	2.8e-38	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	388	448	1.82e-7	SMART
TSP1	449	504	1.42e-9	SMART
TSP1	510	562	2.47e-9	SMART
low complexity region	626	643	N/A	INTRINSIC
KU	770	823	1.83e-22	SMART
Pfam:Papilin_u7	831	922	1.9e-40	PFAM
IGc2	939	1002	2.88e-4	SMART
IGc2	1078	1141	2.66e-17	SMART
IGc2	1167	1231	2.13e-7	SMART
Pfam:PLAC	1257	1289	1.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152904

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Papln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Papln	APN	12	83770436	missense	possibly damaging	0.81
IGL01788:Papln	APN	12	83775462	missense	probably benign	0.32
IGL01889:Papln	APN	12	83786835	missense	probably benign	0.25
IGL02499:Papln	APN	12	83780671	missense	probably benign	0.00
IGL03150:Papln	APN	12	83782984	missense	probably damaging	1.00
IGL03331:Papln	APN	12	83783661	missense	probably benign
F5770:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
R0201:Papln	UTSW	12	83783027	splice site	probably benign
R0389:Papln	UTSW	12	83783379	nonsense	probably null
R0763:Papln	UTSW	12	83791865	missense	possibly damaging	0.54
R1508:Papln	UTSW	12	83782916	missense	probably damaging	0.99
R1628:Papln	UTSW	12	83784406	splice site	probably benign
R1920:Papln	UTSW	12	83789254	nonsense	probably null
R1974:Papln	UTSW	12	83782037	missense	probably damaging	0.98
R2004:Papln	UTSW	12	83773218	missense	probably damaging	1.00
R2105:Papln	UTSW	12	83780236	missense	probably benign	0.04
R2876:Papln	UTSW	12	83778927	missense	probably damaging	0.96
R4199:Papln	UTSW	12	83783392	missense	probably null	0.01
R4702:Papln	UTSW	12	83781983	missense	probably benign	0.01
R4705:Papln	UTSW	12	83777208	splice site	probably null
R4835:Papln	UTSW	12	83774420	missense	probably damaging	0.99
R4874:Papln	UTSW	12	83777143	missense	probably benign	0.01
R4938:Papln	UTSW	12	83782903	missense	probably benign	0.35
R5000:Papln	UTSW	12	83774889	missense	probably damaging	1.00
R5149:Papln	UTSW	12	83771882	splice site	probably null
R5324:Papln	UTSW	12	83774571	missense	probably damaging	1.00
R5784:Papln	UTSW	12	83781980	missense	probably benign
R5881:Papln	UTSW	12	83771878	missense	probably null	0.91
R5977:Papln	UTSW	12	83784369	nonsense	probably null
R6035:Papln	UTSW	12	83774680	missense	probably damaging	1.00
R6035:Papln	UTSW	12	83774680	missense	probably damaging	1.00
R6291:Papln	UTSW	12	83783015	missense	probably benign	0.01
R6461:Papln	UTSW	12	83781813	splice site	probably null
R6536:Papln	UTSW	12	83781887	missense	probably damaging	1.00
R6861:Papln	UTSW	12	83774949	missense	probably damaging	1.00
R6898:Papln	UTSW	12	83777460	missense	probably benign	0.03
R6953:Papln	UTSW	12	83781885	nonsense	probably null
R7155:Papln	UTSW	12	83776521	missense	probably damaging	1.00
R7450:Papln	UTSW	12	83780171	missense	probably benign	0.13
R7510:Papln	UTSW	12	83772173	missense	probably damaging	0.99
R7850:Papln	UTSW	12	83780662	missense	probably damaging	1.00
R7977:Papln	UTSW	12	83775382	missense	probably damaging	1.00
R7987:Papln	UTSW	12	83775382	missense	probably damaging	1.00
R8321:Papln	UTSW	12	83774941	nonsense	probably null
R8324:Papln	UTSW	12	83786619	missense	probably damaging	1.00
R8466:Papln	UTSW	12	83778481	critical splice acceptor site	probably null
V7580:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
V7581:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
V7582:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
Z1088:Papln	UTSW	12	83776376	missense	probably benign	0.19

Posted On

2015-04-16