Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Papln'

663374

Institutional Source

Beutler Lab

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

MMRRC Submission

068588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8743 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

83810408-83839156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83829764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 962 (K962E)

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: K940E

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

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: K940E

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: K962E

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

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: K962E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Ccr2	A	C	9: 123,906,131 (GRCm39)	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Dusp16	A	T	6: 134,694,933 (GRCm39)	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Garin5b	T	A	7: 4,760,814 (GRCm39)	T633S		Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,431,866 (GRCm39)	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	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
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
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'- CCTACAAGAGTGTTTCCCTGG -3'
(R):5'- CTCCCATGCTACCAGAGAAG -3'

Sequencing Primer
(F):5'- TACAAGAGTGTTTCCCTGGCCATG -3'
(R):5'- TGCTACCAGAGAAGACCATATAGC -3'

Posted On

2021-03-08