Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Papln'

389851

Institutional Source

Beutler Lab

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83810408-83839156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83821663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 297 (Y297C)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

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

AlphaFold

Q9EPX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021646
AA Change: Y297C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: Y297C

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 damaging
Transcript: ENSMUST00000121733
AA Change: Y297C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: Y297C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	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
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
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'- TACAGTACGAACGGGGTGTG -3'
(R):5'- TCCCTCATCCTAGTGTAGGC -3'

Sequencing Primer
(F):5'- CTCCTGAGCGGCTCCAG -3'
(R):5'- AGTGTTTACCTCCACCAC -3'

Posted On

2016-06-06