Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03331:Papln'

416872

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03331

Quality Score

Status

Chromosome

Chromosomal Location

83810408-83839156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83830435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1016 (M1016V)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

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

AlphaFold

Q9EPX2

Predicted Effect

probably benign
Transcript: ENSMUST00000021646
AA Change: M994V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: M994V

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: M1016V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: M1016V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	C	A	14: 78,751,305 (GRCm39)	D361Y	probably damaging	Het
Arhgap10	T	C	8: 78,146,711 (GRCm39)	N231S	probably damaging	Het
Asb15	A	T	6: 24,556,523 (GRCm39)	D6V	possibly damaging	Het
C1qb	G	A	4: 136,607,604 (GRCm39)	A253V	probably damaging	Het
Ccdc178	G	T	18: 21,944,640 (GRCm39)		probably null	Het
Chst15	A	G	7: 131,864,442 (GRCm39)	L387P	probably damaging	Het
Clca3b	T	A	3: 144,533,724 (GRCm39)	E550D	probably benign	Het
Dnah5	A	G	15: 28,420,086 (GRCm39)	K3795E	probably damaging	Het
Dppa2	T	C	16: 48,134,242 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,545,149 (GRCm39)	Y220C	probably damaging	Het
Fkbpl	C	T	17: 34,864,661 (GRCm39)	T143I	probably damaging	Het
Gbe1	T	G	16: 70,230,466 (GRCm39)	Y155D	probably damaging	Het
Gm1979	T	C	5: 26,207,008 (GRCm39)	K69R	probably damaging	Het
Gna14	G	A	19: 16,586,832 (GRCm39)	V336M	probably damaging	Het
Gpr37	A	G	6: 25,669,728 (GRCm39)	V372A	probably benign	Het
H2bc12	T	C	13: 22,220,443 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,785,015 (GRCm39)		probably benign	Het
Krt20	T	C	11: 99,326,256 (GRCm39)		probably null	Het
Lman1	T	C	18: 66,126,275 (GRCm39)	T284A	probably benign	Het
Matn2	A	T	15: 34,345,503 (GRCm39)	D170V	probably damaging	Het
Morc1	C	A	16: 48,432,731 (GRCm39)		probably benign	Het
Necap1	T	A	6: 122,857,376 (GRCm39)	S34T	probably benign	Het
Nt5c3b	T	C	11: 100,327,041 (GRCm39)	Y85C	probably damaging	Het
Or2t6	C	A	14: 14,176,017 (GRCm38)	A22S	probably benign	Het
Or5b102	T	A	19: 13,041,231 (GRCm39)	L152H	probably damaging	Het
Pld1	T	C	3: 28,139,994 (GRCm39)	F605L	probably damaging	Het
Rbms2	T	A	10: 127,969,504 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,423,656 (GRCm39)	V108E	probably damaging	Het
Scap	T	C	9: 110,209,304 (GRCm39)		probably null	Het
Serpina1f	T	C	12: 103,657,150 (GRCm39)	I307M	probably benign	Het
Tchh	A	G	3: 93,350,725 (GRCm39)	D55G	probably damaging	Het
Tnfaip3	G	T	10: 18,887,349 (GRCm39)	Q59K	possibly damaging	Het
Vcan	A	G	13: 89,810,051 (GRCm39)	C2287R	probably damaging	Het
Vmn2r6	T	C	3: 64,445,428 (GRCm39)	N766D	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
F5770:Papln	UTSW	12	83,825,608 (GRCm39)	missense	possibly damaging	0.72
R0201:Papln	UTSW	12	83,829,801 (GRCm39)	splice site	probably benign
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

Posted On

2016-08-02