Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Papln'

23662

Institutional Source

Beutler Lab

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83810408-83839156 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 83829801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

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

AlphaFold

Q9EPX2

Predicted Effect

probably benign
Transcript: ENSMUST00000021646

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223

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

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,010,867 (GRCm39)	S3*	probably null	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 88,198,741 (GRCm39)	T43K	probably benign	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mcu	A	G	10: 59,292,499 (GRCm39)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,647,649 (GRCm39)	R427*	probably null	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,060,977 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het

Other mutations in Papln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Papln	APN	12	83,817,210 (GRCm39)	missense	possibly damaging	0.81
IGL01788:Papln	APN	12	83,822,236 (GRCm39)	missense	probably benign	0.32
IGL01889:Papln	APN	12	83,833,609 (GRCm39)	missense	probably benign	0.25
IGL02499:Papln	APN	12	83,827,445 (GRCm39)	missense	probably benign	0.00
IGL02567:Papln	APN	12	83,825,611 (GRCm39)	missense	probably benign	0.00
IGL03150:Papln	APN	12	83,829,758 (GRCm39)	missense	probably damaging	1.00
IGL03331:Papln	APN	12	83,830,435 (GRCm39)	missense	probably benign
F5770:Papln	UTSW	12	83,825,608 (GRCm39)	missense	possibly damaging	0.72
R0389:Papln	UTSW	12	83,830,153 (GRCm39)	nonsense	probably null
R0763:Papln	UTSW	12	83,838,639 (GRCm39)	missense	possibly damaging	0.54
R1508:Papln	UTSW	12	83,829,690 (GRCm39)	missense	probably damaging	0.99
R1628:Papln	UTSW	12	83,831,180 (GRCm39)	splice site	probably benign
R1920:Papln	UTSW	12	83,836,028 (GRCm39)	nonsense	probably null
R1974:Papln	UTSW	12	83,828,811 (GRCm39)	missense	probably damaging	0.98
R2004:Papln	UTSW	12	83,819,992 (GRCm39)	missense	probably damaging	1.00
R2105:Papln	UTSW	12	83,827,010 (GRCm39)	missense	probably benign	0.04
R2876:Papln	UTSW	12	83,825,701 (GRCm39)	missense	probably damaging	0.96
R4199:Papln	UTSW	12	83,830,166 (GRCm39)	missense	probably null	0.01
R4702:Papln	UTSW	12	83,828,757 (GRCm39)	missense	probably benign	0.01
R4705:Papln	UTSW	12	83,823,982 (GRCm39)	splice site	probably null
R4835:Papln	UTSW	12	83,821,194 (GRCm39)	missense	probably damaging	0.99
R4874:Papln	UTSW	12	83,823,917 (GRCm39)	missense	probably benign	0.01
R4938:Papln	UTSW	12	83,829,677 (GRCm39)	missense	probably benign	0.35
R5000:Papln	UTSW	12	83,821,663 (GRCm39)	missense	probably damaging	1.00
R5149:Papln	UTSW	12	83,818,656 (GRCm39)	splice site	probably null
R5324:Papln	UTSW	12	83,821,345 (GRCm39)	missense	probably damaging	1.00
R5784:Papln	UTSW	12	83,828,754 (GRCm39)	missense	probably benign
R5881:Papln	UTSW	12	83,818,652 (GRCm39)	missense	probably null	0.91
R5977:Papln	UTSW	12	83,831,143 (GRCm39)	nonsense	probably null
R6035:Papln	UTSW	12	83,821,454 (GRCm39)	missense	probably damaging	1.00
R6035:Papln	UTSW	12	83,821,454 (GRCm39)	missense	probably damaging	1.00
R6291:Papln	UTSW	12	83,829,789 (GRCm39)	missense	probably benign	0.01
R6461:Papln	UTSW	12	83,828,587 (GRCm39)	splice site	probably null
R6536:Papln	UTSW	12	83,828,661 (GRCm39)	missense	probably damaging	1.00
R6861:Papln	UTSW	12	83,821,723 (GRCm39)	missense	probably damaging	1.00
R6898:Papln	UTSW	12	83,824,234 (GRCm39)	missense	probably benign	0.03
R6953:Papln	UTSW	12	83,828,659 (GRCm39)	nonsense	probably null
R7155:Papln	UTSW	12	83,823,295 (GRCm39)	missense	probably damaging	1.00
R7450:Papln	UTSW	12	83,826,945 (GRCm39)	missense	probably benign	0.13
R7510:Papln	UTSW	12	83,818,947 (GRCm39)	missense	probably damaging	0.99
R7850:Papln	UTSW	12	83,827,436 (GRCm39)	missense	probably damaging	1.00
R7977:Papln	UTSW	12	83,822,156 (GRCm39)	missense	probably damaging	1.00
R7987:Papln	UTSW	12	83,822,156 (GRCm39)	missense	probably damaging	1.00
R8321:Papln	UTSW	12	83,821,715 (GRCm39)	nonsense	probably null
R8324:Papln	UTSW	12	83,833,393 (GRCm39)	missense	probably damaging	1.00
R8466:Papln	UTSW	12	83,825,255 (GRCm39)	critical splice acceptor site	probably null
R8743:Papln	UTSW	12	83,829,764 (GRCm39)	missense	probably damaging	1.00
R8790:Papln	UTSW	12	83,823,918 (GRCm39)	missense	probably benign	0.01
R9086:Papln	UTSW	12	83,821,633 (GRCm39)	missense	probably damaging	1.00
R9291:Papln	UTSW	12	83,825,284 (GRCm39)	missense	probably benign	0.01
R9350:Papln	UTSW	12	83,833,638 (GRCm39)	missense	probably damaging	1.00
R9438:Papln	UTSW	12	83,818,606 (GRCm39)	missense	probably benign
R9484:Papln	UTSW	12	83,838,618 (GRCm39)	missense	probably benign	0.05
V7580:Papln	UTSW	12	83,825,608 (GRCm39)	missense	possibly damaging	0.72
V7581:Papln	UTSW	12	83,825,608 (GRCm39)	missense	possibly damaging	0.72
V7582:Papln	UTSW	12	83,825,608 (GRCm39)	missense	possibly damaging	0.72
Z1088:Papln	UTSW	12	83,823,150 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GCAAGGGTCAACCATTCTGTGTCG -3'
(R):5'- AGAGTCTTCCAGCTCCCATGCTAC -3'

Sequencing Primer
(F):5'- TGGGACTCTAGCCTTACAAATGC -3'
(R):5'- GCTCCCATGCTACCAGAG -3'

Posted On

2013-04-16