Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Npnt'

359497

Institutional Source

Beutler Lab

Gene Symbol

Npnt

Ensembl Gene

ENSMUSG00000040998

Gene Name

nephronectin

Synonyms

POEM, 1110009H02Rik

MMRRC Submission

042025-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132587506-132656052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132610452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 272 (T272P)

Ref Sequence

ENSEMBL: ENSMUSP00000112816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042729] [ENSMUST00000042744] [ENSMUST00000093971] [ENSMUST00000117164] [ENSMUST00000117456] [ENSMUST00000117811]

AlphaFold

Q91V88

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042729
AA Change: T393P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: T393P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	76	104	1.53e-1	SMART
EGF_CA	106	145	1.85e-9	SMART
EGF	149	185	1.73e1	SMART
EGF	189	230	7.53e-1	SMART
EGF_CA	231	271	5.31e-10	SMART
low complexity region	324	383	N/A	INTRINSIC
Pfam:MAM	439	578	8.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042744
AA Change: T376P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: T376P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	59	87	7.6e-4	SMART
EGF_CA	89	128	9e-12	SMART
EGF	132	168	8.5e-2	SMART
EGF	172	213	3.5e-3	SMART
EGF_CA	214	254	2.6e-12	SMART
low complexity region	307	366	N/A	INTRINSIC
MAM	417	560	1.4e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093971
AA Change: T424P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: T424P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	76	104	1.53e-1	SMART
EGF_CA	137	176	1.85e-9	SMART
EGF	180	216	1.73e1	SMART
EGF	220	261	7.53e-1	SMART
EGF_CA	262	302	5.31e-10	SMART
low complexity region	355	414	N/A	INTRINSIC
Pfam:MAM	470	609	1.9e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117164
AA Change: T407P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: T407P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	59	87	1.53e-1	SMART
EGF_CA	120	159	1.85e-9	SMART
EGF	163	199	1.73e1	SMART
EGF	203	244	7.53e-1	SMART
EGF_CA	245	285	5.31e-10	SMART
low complexity region	338	397	N/A	INTRINSIC
Pfam:MAM	453	592	8.6e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117456
AA Change: T272P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
AA Change: T272P

Domain	Start	End	E-Value	Type
EGF	28	64	1.73e1	SMART
EGF	68	109	7.53e-1	SMART
EGF_CA	110	150	5.31e-10	SMART
low complexity region	203	262	N/A	INTRINSIC
Pfam:MAM	318	457	5.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117811
AA Change: T376P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: T376P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	59	87	1.53e-1	SMART
EGF_CA	89	128	1.85e-9	SMART
EGF	132	168	1.73e1	SMART
EGF	172	213	7.53e-1	SMART
EGF_CA	214	254	5.31e-10	SMART
low complexity region	307	366	N/A	INTRINSIC
Pfam:MAM	393	532	3.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132732

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele frequently exhibit kidney agenesis or hypoplasia attributed to a delay in the invasion of the metanephric mesenchyme by the ureteric bud at an early stage of kidney development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,796,904 (GRCm39)		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,878,403 (GRCm39)		probably benign	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abcc5	T	A	16: 20,218,376 (GRCm39)	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,959,886 (GRCm39)	K155N	probably damaging	Het
Acot3	T	C	12: 84,105,364 (GRCm39)	I277T	probably benign	Het
Ankrd45	G	A	1: 160,982,960 (GRCm39)	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,605,306 (GRCm39)	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,890,152 (GRCm39)	N677T	probably benign	Het
Atg13	A	G	2: 91,515,040 (GRCm39)	S254P	probably damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Avl9	T	A	6: 56,703,294 (GRCm39)	V120D	probably damaging	Het
Castor1	A	G	11: 4,169,004 (GRCm39)	E57G	possibly damaging	Het
Cc2d1b	T	C	4: 108,485,239 (GRCm39)	V527A	probably benign	Het
Ccnl1	A	G	3: 65,854,092 (GRCm39)		probably benign	Het
Cenpl	T	A	1: 160,910,837 (GRCm39)	D261E	probably damaging	Het
Cep192	T	G	18: 67,984,803 (GRCm39)	I1604M	probably benign	Het
Cep95	A	G	11: 106,706,560 (GRCm39)	I573V	probably benign	Het
Cfap100	A	G	6: 90,389,825 (GRCm39)		probably null	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cmc1	T	A	9: 117,904,245 (GRCm39)	M49L	probably benign	Het
Cyfip2	G	T	11: 46,170,820 (GRCm39)	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,342,430 (GRCm39)	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,172,971 (GRCm39)	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,281,339 (GRCm39)	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,105,658 (GRCm39)	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,583,375 (GRCm39)	L119Q	probably damaging	Het
Dnah3	T	C	7: 119,677,169 (GRCm39)	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,408,246 (GRCm39)	N432Y	possibly damaging	Het
Dst	T	A	1: 34,230,228 (GRCm39)	I2785N	probably benign	Het
Dynap	A	T	18: 70,374,296 (GRCm39)	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 137,910,510 (GRCm39)	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Enpp5	C	T	17: 44,392,027 (GRCm39)	T152I	probably damaging	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Erc2	T	G	14: 27,498,838 (GRCm39)	L238R	probably damaging	Het
Eya3	T	A	4: 132,448,698 (GRCm39)		probably benign	Het
Farp1	T	C	14: 121,476,199 (GRCm39)	F339L	probably damaging	Het
Fsip2	A	C	2: 82,805,697 (GRCm39)	D672A	possibly damaging	Het
Gap43	G	T	16: 42,112,581 (GRCm39)	P60Q	probably benign	Het
Gpr37l1	T	A	1: 135,094,783 (GRCm39)	I154F	probably damaging	Het
Greb1	A	G	12: 16,746,329 (GRCm39)	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,486,505 (GRCm39)	M3167L	probably benign	Het
Hps3	C	T	3: 20,084,574 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,436,013 (GRCm39)	C178R	probably benign	Het
Hspg2	T	A	4: 137,297,384 (GRCm39)		probably benign	Het
Impdh2-ps	A	G	8: 100,757,839 (GRCm39)		noncoding transcript	Het
Josd2	T	A	7: 44,120,678 (GRCm39)	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,529,546 (GRCm39)	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,650,520 (GRCm39)	V323M	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo18a	T	C	11: 77,714,149 (GRCm39)	Y748H	probably damaging	Het
Nek1	A	T	8: 61,551,545 (GRCm39)	N853I	probably benign	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or2ag1b	C	A	7: 106,288,351 (GRCm39)	E196*	probably null	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or2y17	G	A	11: 49,232,148 (GRCm39)	G263D	probably benign	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or52n2c	G	A	7: 104,574,017 (GRCm39)	T318I	possibly damaging	Het
Or5a1	A	G	19: 12,097,234 (GRCm39)	Y269H	possibly damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pappa2	T	G	1: 158,784,572 (GRCm39)	D146A	probably damaging	Het
Pcsk9	C	T	4: 106,304,353 (GRCm39)	G496R	probably damaging	Het
Pes1	A	G	11: 3,914,058 (GRCm39)	K8E	probably damaging	Het
Phlpp2	G	A	8: 110,667,052 (GRCm39)	G1194S	probably damaging	Het
Pkn1	A	C	8: 84,398,378 (GRCm39)	V763G	probably damaging	Het
Pkp2	C	A	16: 16,048,588 (GRCm39)	A331E	probably damaging	Het
Plb1	T	A	5: 32,507,023 (GRCm39)		probably null	Het
Plxna1	A	T	6: 89,309,657 (GRCm39)		probably null	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Prkag3	T	C	1: 74,779,864 (GRCm39)	*490W	probably null	Het
Prl2c1	T	C	13: 28,041,661 (GRCm39)	C228R	probably damaging	Het
Pus7l	T	C	15: 94,438,591 (GRCm39)	S85G	probably benign	Het
Rfc3	A	C	5: 151,568,241 (GRCm39)		probably benign	Het
Riox2	A	G	16: 59,309,732 (GRCm39)	N362S	probably benign	Het
Scaper	A	T	9: 55,650,932 (GRCm39)	D904E	probably damaging	Het
Scn11a	T	C	9: 119,583,627 (GRCm39)	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,272,209 (GRCm39)	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,745,923 (GRCm39)	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,393,893 (GRCm39)	M66K	probably damaging	Het
Styk1	T	G	6: 131,277,429 (GRCm39)	E404A	probably damaging	Het
Synj1	T	A	16: 90,752,307 (GRCm39)	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,097,475 (GRCm39)		probably null	Het
Tmem87a	A	G	2: 120,190,518 (GRCm39)		probably null	Het
Trappc9	T	G	15: 72,808,909 (GRCm39)	Y718S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,475,054 (GRCm39)	G397R	probably damaging	Het
Wdr33	T	A	18: 32,019,139 (GRCm39)	M454K	probably benign	Het
Wdtc1	G	T	4: 133,029,110 (GRCm39)	N325K	possibly damaging	Het
Whrn	T	C	4: 63,336,402 (GRCm39)	H720R	probably damaging	Het
Xirp2	A	T	2: 67,349,609 (GRCm39)	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 10,959,573 (GRCm39)	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,831,841 (GRCm39)	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,647,249 (GRCm39)	T901M	probably damaging	Het

Other mutations in Npnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Npnt	APN	3	132,610,418 (GRCm39)	critical splice donor site	probably null
IGL01457:Npnt	APN	3	132,591,743 (GRCm39)	missense	probably damaging	1.00
IGL01954:Npnt	APN	3	132,615,724 (GRCm39)	missense	probably damaging	1.00
IGL01999:Npnt	APN	3	132,614,160 (GRCm39)	missense	probably damaging	1.00
IGL02012:Npnt	APN	3	132,614,158 (GRCm39)	missense	probably damaging	1.00
IGL02025:Npnt	APN	3	132,596,523 (GRCm39)	critical splice donor site	probably null
IGL02637:Npnt	APN	3	132,590,271 (GRCm39)	missense	possibly damaging	0.90
R0234:Npnt	UTSW	3	132,620,175 (GRCm39)	missense	possibly damaging	0.82
R0234:Npnt	UTSW	3	132,620,175 (GRCm39)	missense	possibly damaging	0.82
R1680:Npnt	UTSW	3	132,612,563 (GRCm39)	missense	probably benign	0.00
R1729:Npnt	UTSW	3	132,620,158 (GRCm39)	nonsense	probably null
R1773:Npnt	UTSW	3	132,610,454 (GRCm39)	missense	possibly damaging	0.62
R1980:Npnt	UTSW	3	132,653,893 (GRCm39)	missense	probably benign	0.04
R1982:Npnt	UTSW	3	132,653,893 (GRCm39)	missense	probably benign	0.04
R2338:Npnt	UTSW	3	132,597,170 (GRCm39)	missense	probably damaging	1.00
R3800:Npnt	UTSW	3	132,612,524 (GRCm39)	missense	probably damaging	1.00
R4790:Npnt	UTSW	3	132,596,523 (GRCm39)	critical splice donor site	probably benign
R5008:Npnt	UTSW	3	132,612,218 (GRCm39)	missense	probably damaging	1.00
R5446:Npnt	UTSW	3	132,614,130 (GRCm39)	missense	probably damaging	1.00
R5471:Npnt	UTSW	3	132,620,148 (GRCm39)	missense	probably benign	0.05
R5538:Npnt	UTSW	3	132,610,724 (GRCm39)	missense	probably damaging	1.00
R5673:Npnt	UTSW	3	132,623,258 (GRCm39)	missense	probably damaging	0.97
R5683:Npnt	UTSW	3	132,612,601 (GRCm39)	splice site	probably null
R5827:Npnt	UTSW	3	132,612,536 (GRCm39)	missense	possibly damaging	0.89
R5857:Npnt	UTSW	3	132,614,110 (GRCm39)	missense	probably damaging	1.00
R5910:Npnt	UTSW	3	132,612,179 (GRCm39)	missense	probably damaging	1.00
R6208:Npnt	UTSW	3	132,655,774 (GRCm39)	unclassified	probably benign
R6358:Npnt	UTSW	3	132,610,479 (GRCm39)	missense	probably benign	0.18
R6875:Npnt	UTSW	3	132,615,671 (GRCm39)	missense	probably damaging	1.00
R7025:Npnt	UTSW	3	132,614,157 (GRCm39)	missense	probably damaging	1.00
R7145:Npnt	UTSW	3	132,615,692 (GRCm39)	missense	probably benign	0.01
R7166:Npnt	UTSW	3	132,653,889 (GRCm39)	missense	probably damaging	1.00
R7287:Npnt	UTSW	3	132,612,563 (GRCm39)	missense	probably benign	0.00
R7344:Npnt	UTSW	3	132,614,100 (GRCm39)	splice site	probably null
R8344:Npnt	UTSW	3	132,614,217 (GRCm39)	missense	probably damaging	1.00
R8717:Npnt	UTSW	3	132,614,136 (GRCm39)	missense	probably damaging	1.00
R8873:Npnt	UTSW	3	132,655,816 (GRCm39)	start gained	probably benign
R8903:Npnt	UTSW	3	132,591,764 (GRCm39)	missense	probably damaging	1.00
R9414:Npnt	UTSW	3	132,612,116 (GRCm39)	missense	probably benign	0.00
R9420:Npnt	UTSW	3	132,653,866 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTAGAGTTGAACGCCATC -3'
(R):5'- TGTCATTACCAACAGGCCTAC -3'

Sequencing Primer
(F):5'- GCAGTCATAGTTCTTGCAACG -3'
(R):5'- TTACCAACAGGCCTACTTCCAAG -3'

Posted On

2015-11-11