Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Nphp3'

511372

Institutional Source

Beutler Lab

Gene Symbol

Nphp3

Ensembl Gene

ENSMUSG00000032558

Gene Name

nephronophthisis 3 (adolescent)

Synonyms

pcy, 3632410F03Rik, D330020E01Rik, nephrocystin 3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4589 ()

Quality Score

202.468

Status

Not validated

Chromosome

Chromosomal Location

103879743-103921010 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CACG to C at 103903138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035167] [ENSMUST00000193439] [ENSMUST00000194774]

AlphaFold

Q7TNH6

Predicted Effect

probably benign
Transcript: ENSMUST00000035167

SMART Domains

Protein: ENSMUSP00000035167
Gene: ENSMUSG00000032558

Domain	Start	End	E-Value	Type
low complexity region	46	69	N/A	INTRINSIC
coiled coil region	107	203	N/A	INTRINSIC
low complexity region	512	537	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	640	650	N/A	INTRINSIC
TPR	938	971	3.16e1	SMART
TPR	980	1013	7.74e-2	SMART
TPR	1022	1055	3.24e1	SMART
low complexity region	1066	1080	N/A	INTRINSIC
TPR	1088	1121	3.67e-3	SMART
TPR	1130	1163	1.3e-3	SMART
TPR	1172	1205	4.38e-1	SMART
TPR	1214	1247	8.69e-5	SMART
TPR	1256	1289	9.03e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193439

SMART Domains

Protein: ENSMUSP00000141540
Gene: ENSMUSG00000032558

Domain	Start	End	E-Value	Type
coiled coil region	75	109	N/A	INTRINSIC
low complexity region	418	443	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193642

Predicted Effect

probably benign
Transcript: ENSMUST00000194774

SMART Domains

Protein: ENSMUSP00000141596
Gene: ENSMUSG00000032558

Domain	Start	End	E-Value	Type
coiled coil region	49	83	N/A	INTRINSIC
Pfam:NACHT	400	559	2e-6	PFAM
TPR	818	851	3.16e1	SMART
TPR	860	893	7.74e-2	SMART
TPR	902	935	3.24e1	SMART
low complexity region	946	960	N/A	INTRINSIC
TPR	968	1001	3.67e-3	SMART
TPR	1010	1043	1.3e-3	SMART
TPR	1052	1085	4.38e-1	SMART
TPR	1094	1127	8.69e-5	SMART
TPR	1136	1169	9.03e-3	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous hypomorphic mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death. Homozygous null mice display mid gestational lethality with partial penetrance of situs inversus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 76,935,638 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 21,433,919 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,113,518 (GRCm39)		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,814,755 (GRCm39)		probably benign	Homo
Btnl4	T	A	17: 34,691,610 (GRCm39)	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,228,260 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,619,811 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,099,096 (GRCm39)	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,099,102 (GRCm39)		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,527,661 (GRCm39)		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,560,357 (GRCm39)		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 47,047,665 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,080,392 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,080,406 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,457 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,730 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,736 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,532,555 (GRCm39)		probably benign	Het
Dcpp1	A	C	17: 24,100,428 (GRCm39)	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	CC	CCTGC	2: 130,612,672 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,665 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 63,000,369 (GRCm39)		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Eps8	AC	ACTCGC	6: 137,494,067 (GRCm39)		probably null	Het
Ermn	TTC	TTCATC	2: 57,938,081 (GRCm39)		probably benign	Het
Fam81b	TC	TCTCC	13: 76,419,442 (GRCm39)		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,526,016 (GRCm39)		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,247 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,356,118 (GRCm39)		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 71,313,636 (GRCm39)		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	AG	AGCCG	10: 104,031,961 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,939 (GRCm39)		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,031,940 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,314,019 (GRCm39)		probably benign	Het
Ipo9	CCATC	CCATCATC	1: 135,314,004 (GRCm39)		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,839,024 (GRCm39)		probably benign	Homo
Klra9	C	G	6: 130,159,366 (GRCm39)	D216H	probably benign	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,285,806 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,285,789 (GRCm39)		probably null	Het
Krt10	TCC	TCCGCCGCC	11: 99,280,102 (GRCm39)		probably benign	Het
Las1l	TC	TCTTCCAC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 94,984,225 (GRCm39)		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 94,984,227 (GRCm39)		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 92,925,575 (GRCm39)		probably benign	Homo
Loricrin	GCCGCCGCC	GC	3: 91,989,201 (GRCm39)		probably null	Het
Lrit3	AC	ACATCC	3: 129,597,562 (GRCm39)		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,381,048 (GRCm39)		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,549,753 (GRCm39)		probably benign	Het
Ndufc2	G	C	7: 97,049,497 (GRCm39)	M34I	probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,119,223 (GRCm39)		probably benign	Het
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,006,680 (GRCm39)		probably null	Homo
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,468,295 (GRCm39)		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,571,037 (GRCm39)		probably benign	Homo
Prtg	G	A	9: 72,764,147 (GRCm39)	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,246,817 (GRCm39)		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,164,391 (GRCm39)		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,588,607 (GRCm39)		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 85,682,800 (GRCm39)		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,026,742 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Shf	TCT	TCTGCT	2: 122,184,658 (GRCm39)		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,536,115 (GRCm39)		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,928,793 (GRCm39)		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,012,208 (GRCm39)		probably benign	Homo
Spag17	AGG	AGGGGG	3: 99,963,561 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,574 (GRCm39)		probably benign	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Supt20	A	AGCAGCT	3: 54,635,092 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,072 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,076 (GRCm39)		probably benign	Het
Tcof1	GGGTA	G	18: 60,961,722 (GRCm39)		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,796,423 (GRCm39)		probably benign	Het
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,788,230 (GRCm39)		probably null	Homo
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Tob1	CA	CAGCAA	11: 94,105,303 (GRCm39)		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,149,485 (GRCm39)		probably null	Homo
Trim16	A	AAGC	11: 62,711,521 (GRCm39)		probably benign	Homo
Tsbp1	GCA	GCACCA	17: 34,679,027 (GRCm39)		probably benign	Het
Tsbp1	AGC	AGCCGC	17: 34,679,047 (GRCm39)		probably benign	Het
Tubgcp4	GTGA	G	2: 121,005,944 (GRCm39)		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,223,544 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,197,769 (GRCm39)		probably benign	Het
Vars1	GTGG	GTGGAGTCCTGGTTGG	17: 35,234,964 (GRCm39)		probably benign	Homo
Vmn2r52	C	T	7: 9,892,947 (GRCm39)	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,561,038 (GRCm39)		probably benign	Het
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,561,037 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 109,682,733 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,881,725 (GRCm39)		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,556,394 (GRCm39)		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,753 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,261 (GRCm39)		probably benign	Het
Zfp997	G	A	13: 66,270,022 (GRCm39)	S396N	probably benign	Het

Other mutations in Nphp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Nphp3	APN	9	103,895,357 (GRCm39)	missense	possibly damaging	0.75
IGL02329:Nphp3	APN	9	103,903,167 (GRCm39)	missense	probably benign	0.19
lithograph	UTSW	9	103,919,189 (GRCm39)	missense	probably damaging	1.00
quartzite	UTSW	9	103,913,376 (GRCm39)	missense	probably damaging	1.00
F5770:Nphp3	UTSW	9	103,913,093 (GRCm39)	critical splice donor site	probably null
FR4548:Nphp3	UTSW	9	103,903,138 (GRCm39)	small deletion	probably benign
R0112:Nphp3	UTSW	9	103,914,547 (GRCm39)	missense	possibly damaging	0.80
R0555:Nphp3	UTSW	9	103,900,633 (GRCm39)	missense	probably damaging	1.00
R0632:Nphp3	UTSW	9	103,895,473 (GRCm39)	missense	probably damaging	1.00
R0674:Nphp3	UTSW	9	103,913,481 (GRCm39)	critical splice donor site	probably null
R0743:Nphp3	UTSW	9	103,899,967 (GRCm39)	small deletion	probably benign
R0853:Nphp3	UTSW	9	103,909,132 (GRCm39)	missense	probably benign	0.03
R0920:Nphp3	UTSW	9	103,909,106 (GRCm39)	missense	probably benign	0.00
R1420:Nphp3	UTSW	9	103,913,092 (GRCm39)	critical splice donor site	probably null
R1464:Nphp3	UTSW	9	103,909,078 (GRCm39)	splice site	probably benign
R1476:Nphp3	UTSW	9	103,903,126 (GRCm39)	missense	possibly damaging	0.81
R1585:Nphp3	UTSW	9	103,886,413 (GRCm39)	missense	probably damaging	1.00
R1608:Nphp3	UTSW	9	103,913,039 (GRCm39)	missense	probably benign	0.30
R1688:Nphp3	UTSW	9	103,880,323 (GRCm39)	missense	probably damaging	1.00
R1691:Nphp3	UTSW	9	103,880,010 (GRCm39)	missense	probably benign
R1807:Nphp3	UTSW	9	103,897,940 (GRCm39)	missense	probably benign	0.01
R1857:Nphp3	UTSW	9	103,898,493 (GRCm39)	missense	possibly damaging	0.87
R1962:Nphp3	UTSW	9	103,898,537 (GRCm39)	missense	probably benign	0.00
R2127:Nphp3	UTSW	9	103,885,442 (GRCm39)	missense	probably damaging	0.98
R2138:Nphp3	UTSW	9	103,903,102 (GRCm39)	missense	possibly damaging	0.89
R2233:Nphp3	UTSW	9	103,914,575 (GRCm39)	missense	probably benign	0.02
R2234:Nphp3	UTSW	9	103,914,575 (GRCm39)	missense	probably benign	0.02
R3861:Nphp3	UTSW	9	103,916,525 (GRCm39)	unclassified	probably benign
R3928:Nphp3	UTSW	9	103,888,929 (GRCm39)	missense	probably damaging	0.99
R3961:Nphp3	UTSW	9	103,880,241 (GRCm39)	nonsense	probably null
R4182:Nphp3	UTSW	9	103,915,663 (GRCm39)	missense	probably benign	0.06
R4294:Nphp3	UTSW	9	103,899,916 (GRCm39)	missense	probably damaging	1.00
R4387:Nphp3	UTSW	9	103,907,219 (GRCm39)	missense	possibly damaging	0.94
R4625:Nphp3	UTSW	9	103,913,358 (GRCm39)	missense	possibly damaging	0.66
R4628:Nphp3	UTSW	9	103,880,257 (GRCm39)	missense	probably damaging	0.99
R4696:Nphp3	UTSW	9	103,899,931 (GRCm39)	missense	probably benign	0.01
R4865:Nphp3	UTSW	9	103,909,169 (GRCm39)	missense	probably benign
R4886:Nphp3	UTSW	9	103,880,193 (GRCm39)	missense	probably damaging	1.00
R4973:Nphp3	UTSW	9	103,909,198 (GRCm39)	missense	probably benign
R5445:Nphp3	UTSW	9	103,881,922 (GRCm39)	missense	probably damaging	1.00
R5451:Nphp3	UTSW	9	103,919,221 (GRCm39)	missense	probably benign
R5520:Nphp3	UTSW	9	103,901,872 (GRCm39)	missense	probably benign	0.30
R5641:Nphp3	UTSW	9	103,913,352 (GRCm39)	missense	probably damaging	1.00
R5847:Nphp3	UTSW	9	103,880,236 (GRCm39)	missense	probably damaging	1.00
R5928:Nphp3	UTSW	9	103,912,996 (GRCm39)	missense	probably benign	0.01
R5931:Nphp3	UTSW	9	103,897,945 (GRCm39)	missense	probably damaging	1.00
R6161:Nphp3	UTSW	9	103,909,105 (GRCm39)	missense	probably benign	0.11
R6298:Nphp3	UTSW	9	103,892,640 (GRCm39)	missense	probably damaging	1.00
R6890:Nphp3	UTSW	9	103,919,153 (GRCm39)	missense	probably damaging	0.96
R7009:Nphp3	UTSW	9	103,893,315 (GRCm39)	missense	probably null	0.00
R7065:Nphp3	UTSW	9	103,919,189 (GRCm39)	missense	probably damaging	1.00
R7146:Nphp3	UTSW	9	103,882,036 (GRCm39)	nonsense	probably null
R7198:Nphp3	UTSW	9	103,881,974 (GRCm39)	missense	probably damaging	1.00
R7360:Nphp3	UTSW	9	103,893,277 (GRCm39)	critical splice acceptor site	probably null
R7369:Nphp3	UTSW	9	103,895,449 (GRCm39)	missense	probably damaging	0.99
R7554:Nphp3	UTSW	9	103,919,270 (GRCm39)	missense	probably damaging	0.98
R7591:Nphp3	UTSW	9	103,895,477 (GRCm39)	critical splice donor site	probably null
R7665:Nphp3	UTSW	9	103,882,592 (GRCm39)	splice site	probably null
R7672:Nphp3	UTSW	9	103,909,159 (GRCm39)	missense	probably benign
R7675:Nphp3	UTSW	9	103,893,287 (GRCm39)	missense	probably benign
R8039:Nphp3	UTSW	9	103,909,162 (GRCm39)	missense	probably benign
R8145:Nphp3	UTSW	9	103,913,050 (GRCm39)	missense	probably benign	0.16
R8211:Nphp3	UTSW	9	103,909,096 (GRCm39)	missense	possibly damaging	0.80
R8882:Nphp3	UTSW	9	103,882,793 (GRCm39)	missense	possibly damaging	0.77
R9020:Nphp3	UTSW	9	103,909,150 (GRCm39)	missense	probably benign	0.00
R9132:Nphp3	UTSW	9	103,897,980 (GRCm39)	missense	probably damaging	1.00
R9135:Nphp3	UTSW	9	103,909,214 (GRCm39)	missense	probably damaging	0.99
R9159:Nphp3	UTSW	9	103,897,980 (GRCm39)	missense	probably damaging	1.00
R9204:Nphp3	UTSW	9	103,919,305 (GRCm39)	missense	probably benign
R9226:Nphp3	UTSW	9	103,885,328 (GRCm39)	missense	probably benign	0.00
R9229:Nphp3	UTSW	9	103,913,376 (GRCm39)	missense	probably damaging	1.00
R9526:Nphp3	UTSW	9	103,913,337 (GRCm39)	missense	probably damaging	1.00
R9678:Nphp3	UTSW	9	103,900,686 (GRCm39)	missense	possibly damaging	0.90
R9731:Nphp3	UTSW	9	103,886,369 (GRCm39)	missense	probably damaging	1.00
V7583:Nphp3	UTSW	9	103,913,093 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCTTCTGCAACTGGAAGTC -3'
(R):5'- CTGTTAAACTGGAATGAGCAGCC -3'

Sequencing Primer
(F):5'- CAACTGGAAGTCTGGCCATAGC -3'
(R):5'- TGAGCAGCCCTCACTCTG -3'

Posted On

2018-04-05