Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02499:Papln'

295928

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 #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

83763634-83792382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83780671 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 761 (V761A)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021646
AA Change: V739A

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

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: V739A

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: V761A

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

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: V761A

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,726,807	N835S	possibly damaging	Het
Abr	A	T	11: 76,509,090	F27Y	probably benign	Het
Adam5	C	T	8: 24,781,565		probably null	Het
Alas1	A	T	9: 106,241,321	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,852,239	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,185,591	Y253H	probably damaging	Het
Arhgef28	G	T	13: 97,953,783	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,901,496	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,438,048	R5L	possibly damaging	Het
Brap	A	G	5: 121,679,871	Y358C	probably damaging	Het
Cad	T	C	5: 31,069,604	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725	S5*	probably null	Het
Cd200r2	A	G	16: 44,914,585	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,854,238	M6L	probably benign	Het
Cdh23	G	T	10: 60,385,179	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,694,676	S828P	probably benign	Het
Dao	A	G	5: 114,013,941	K107E	possibly damaging	Het
Dnah6	T	A	6: 73,021,227	M4071L	probably benign	Het
Dvl1	T	C	4: 155,854,780	I250T	probably benign	Het
Dzip3	A	C	16: 48,933,850	L945V	probably damaging	Het
Gm128	A	G	3: 95,240,681	S101P	possibly damaging	Het
Gm4951	T	C	18: 60,245,638	S82P	probably damaging	Het
Gphn	T	C	12: 78,492,300	L240P	probably benign	Het
Hecw2	A	G	1: 53,926,488	I393T	probably benign	Het
Kat14	A	G	2: 144,393,831	E161G	probably benign	Het
Kcne3	A	C	7: 100,184,403	I76L	probably benign	Het
Kcnk18	A	T	19: 59,235,182	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,830,509		probably benign	Het
Lrrc73	A	G	17: 46,256,989		probably benign	Het
Mki67	A	G	7: 135,694,327	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,461,512		probably benign	Het
Myo9a	T	A	9: 59,815,386		probably benign	Het
Myt1	G	A	2: 181,825,549		probably benign	Het
Ncoa7	T	C	10: 30,690,889	T587A	probably benign	Het
Nemf	T	A	12: 69,322,129	I771F	probably damaging	Het
Olfr180	A	G	16: 58,916,251	L130P	probably damaging	Het
Olfr250	A	T	9: 38,367,681	Y45F	probably benign	Het
Olfr370	T	A	8: 83,541,183	V13D	possibly damaging	Het
Pask	A	T	1: 93,321,095	L861*	probably null	Het
Pcdh18	T	A	3: 49,753,447	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,331,553		probably null	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rasgrp4	A	T	7: 29,151,503		probably benign	Het
Rp1	T	C	1: 4,349,048	I614V	probably benign	Het
Sec23ip	T	C	7: 128,776,916	I818T	probably damaging	Het
Skint11	G	A	4: 114,194,604	A50T	probably benign	Het
Sqor	T	A	2: 122,808,087	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,207,619		probably null	Het
Tbc1d8b	A	T	X: 139,712,424	D333V	probably damaging	Het
Tbx2	T	C	11: 85,840,913	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,684,066		probably benign	Het
Ttn	T	C	2: 76,859,451		probably benign	Het
Vmn2r28	A	T	7: 5,490,569	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,251,740	G204V	probably damaging	Het
Zfp426	A	C	9: 20,473,118		probably benign	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
IGL02567:Papln	APN	12	83778837	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