Mutagenetix > Incidental Mutation

Incidental Mutation 'R8531:Nherf4'

659053

Institutional Source

Beutler Lab

Gene Symbol

Nherf4

Ensembl Gene

ENSMUSG00000032105

Gene Name

NHERF family PDZ scaffold protein 4

Synonyms

NaPi-Cap2, sodium-phosphate cotransporter IIa C-terminal-associated protein 2, Pdzk2, Pdzd3

MMRRC Submission

068501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44158609-44162761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44159670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 442 (E442G)

Ref Sequence

ENSEMBL: ENSMUSP00000034618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000034621] [ENSMUST00000092426] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213891] [ENSMUST00000215554] [ENSMUST00000215711] [ENSMUST00000216632] [ENSMUST00000217221] [ENSMUST00000217510]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034618
AA Change: E442G

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

SMART Domains

Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: E442G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
PDZ	58	130	2.04e-15	SMART
PDZ	165	235	2.93e-7	SMART
PDZ	271	346	2.47e-14	SMART
PDZ	403	475	1.4e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034621

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.1e-22	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092426

SMART Domains

Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
coiled coil region	26	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168499

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169651

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213891

Predicted Effect

probably benign
Transcript: ENSMUST00000215554

Predicted Effect

probably benign
Transcript: ENSMUST00000215711

Predicted Effect

probably benign
Transcript: ENSMUST00000216632

Predicted Effect

probably benign
Transcript: ENSMUST00000217221

Predicted Effect

probably benign
Transcript: ENSMUST00000217510

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,622 (GRCm39)	R1506S	probably benign	Het
Acox2	T	C	14: 8,247,960 (GRCm38)	T441A	probably damaging	Het
Adam6a	A	G	12: 113,508,917 (GRCm39)	E430G	probably damaging	Het
Afg3l2	T	C	18: 67,540,439 (GRCm39)	E690G	probably damaging	Het
Alb	A	G	5: 90,611,873 (GRCm39)	I101V	probably benign	Het
Arhgef19	T	C	4: 140,976,903 (GRCm39)	I493T	possibly damaging	Het
Btnl2	T	C	17: 34,577,028 (GRCm39)	M61T	probably benign	Het
Cyp2d11	A	G	15: 82,273,429 (GRCm39)	Y481H	probably benign	Het
Dennd4c	T	C	4: 86,744,319 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,334,182 (GRCm39)	V993F	possibly damaging	Het
Dlk1	A	G	12: 109,424,066 (GRCm39)	Q110R	probably null	Het
Dmp1	A	C	5: 104,360,269 (GRCm39)	D315A	probably damaging	Het
Dnah3	T	C	7: 119,550,591 (GRCm39)	K3243E	probably damaging	Het
Dsc3	T	C	18: 20,101,449 (GRCm39)	N648S	probably benign	Het
Dsc3	C	T	18: 20,114,274 (GRCm39)	D327N	probably damaging	Het
Egr4	T	C	6: 85,489,106 (GRCm39)	D318G	probably damaging	Het
Fiz1	A	T	7: 5,012,163 (GRCm39)	C118*	probably null	Het
Flad1	A	C	3: 89,310,517 (GRCm39)	Y479D	probably damaging	Het
Flnb	T	C	14: 7,929,939 (GRCm38)	F2023S	probably damaging	Het
Glp1r	T	C	17: 31,143,531 (GRCm39)	L189P	probably damaging	Het
Grm5	A	T	7: 87,779,724 (GRCm39)	T1055S	probably benign	Het
Gucy1a1	A	G	3: 82,018,468 (GRCm39)	I123T	probably benign	Het
Ifnar1	T	A	16: 91,292,344 (GRCm39)	C199*	probably null	Het
Lepr	A	T	4: 101,622,612 (GRCm39)	Y464F	probably damaging	Het
Mamdc4	G	T	2: 25,457,730 (GRCm39)	Q452K	possibly damaging	Het
Map2k6	A	G	11: 110,290,175 (GRCm39)		probably benign	Het
Mphosph10	T	C	7: 64,034,076 (GRCm39)	I429V	possibly damaging	Het
Neb	T	A	2: 52,181,074 (GRCm39)	M1178L	possibly damaging	Het
Npc2	C	A	12: 84,807,612 (GRCm39)	R82L	probably benign	Het
Olfm5	A	T	7: 103,803,029 (GRCm39)	M478K	probably benign	Het
Or5aq6	G	T	2: 86,923,670 (GRCm39)	Q24K	probably benign	Het
Or5k14	A	C	16: 58,693,016 (GRCm39)	L166V	probably damaging	Het
Osbpl9	T	C	4: 109,013,908 (GRCm39)	D62G	probably damaging	Het
Otog	C	T	7: 45,901,473 (GRCm39)	R391C	probably damaging	Het
Plppr4	T	C	3: 117,115,592 (GRCm39)	Y755C	probably damaging	Het
Pnpla8	T	A	12: 44,358,368 (GRCm39)	F708I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,932 (GRCm39)	T213S	probably benign	Het
Pramel27	T	A	4: 143,579,601 (GRCm39)	D395E	probably benign	Het
Rabep1	T	C	11: 70,799,332 (GRCm39)	S278P	probably benign	Het
Rigi	A	G	4: 40,225,596 (GRCm39)		probably null	Het
Rnf213	C	G	11: 119,365,031 (GRCm39)	Q4563E	probably benign	Het
Rttn	C	A	18: 89,131,467 (GRCm39)	R1949S	probably benign	Het
Rwdd3	T	C	3: 120,952,788 (GRCm39)	I140V	probably benign	Het
Serpinb6a	A	T	13: 34,115,462 (GRCm39)	M53K	probably damaging	Het
Serpinb9g	A	T	13: 33,676,896 (GRCm39)	D226V	possibly damaging	Het
Serpind1	A	T	16: 17,160,847 (GRCm39)	Y459F	probably damaging	Het
Skor2	T	C	18: 76,946,569 (GRCm39)	V97A	unknown	Het
Slc26a4	C	T	12: 31,599,911 (GRCm39)		probably null	Het
Slc4a10	T	C	2: 62,097,851 (GRCm39)	Y517H	probably damaging	Het
Sphkap	A	G	1: 83,254,909 (GRCm39)	W947R	probably damaging	Het
Sult3a2	T	C	10: 33,653,239 (GRCm39)	D167G	probably damaging	Het
Supt16	A	T	14: 52,410,020 (GRCm39)	M729K	probably damaging	Het
Tmem176b	A	G	6: 48,811,538 (GRCm39)	I37T	possibly damaging	Het
Tmem259	A	G	10: 79,813,819 (GRCm39)	V423A	probably damaging	Het
Tmem62	G	T	2: 120,837,533 (GRCm39)	L483F	probably damaging	Het
Tnfrsf13b	T	C	11: 61,031,777 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,074 (GRCm39)	I1191K	probably damaging	Het
Txk	C	A	5: 72,893,720 (GRCm39)	C20F	possibly damaging	Het
Ube2w	A	C	1: 16,672,542 (GRCm39)	N46K	probably benign	Het
Unc79	A	T	12: 103,013,922 (GRCm39)	H300L	probably damaging	Het
Unc79	T	A	12: 103,049,855 (GRCm39)	H920Q	probably benign	Het
Vmn1r16	A	G	6: 57,299,900 (GRCm39)	Y241H	probably damaging	Het
Vmn2r100	A	T	17: 19,742,459 (GRCm39)	I278F	possibly damaging	Het
Zfp260	T	A	7: 29,804,884 (GRCm39)	H261Q	probably damaging	Het

Other mutations in Nherf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Nherf4	APN	9	44,160,933 (GRCm39)	missense	possibly damaging	0.84
IGL01639:Nherf4	APN	9	44,159,976 (GRCm39)	missense	probably benign	0.41
IGL02210:Nherf4	APN	9	44,159,614 (GRCm39)	missense	probably benign
IGL02502:Nherf4	APN	9	44,160,948 (GRCm39)	missense	probably benign
IGL03082:Nherf4	APN	9	44,162,083 (GRCm39)	missense	possibly damaging	0.65
R0543:Nherf4	UTSW	9	44,160,231 (GRCm39)	missense	probably damaging	1.00
R1180:Nherf4	UTSW	9	44,160,543 (GRCm39)	missense	probably benign	0.38
R1919:Nherf4	UTSW	9	44,161,600 (GRCm39)	missense	possibly damaging	0.83
R4019:Nherf4	UTSW	9	44,162,117 (GRCm39)	splice site	probably null
R4020:Nherf4	UTSW	9	44,162,117 (GRCm39)	splice site	probably null
R4296:Nherf4	UTSW	9	44,160,158 (GRCm39)	missense	probably benign	0.01
R4430:Nherf4	UTSW	9	44,161,041 (GRCm39)	missense	probably benign
R4433:Nherf4	UTSW	9	44,159,285 (GRCm39)	makesense	probably null
R4567:Nherf4	UTSW	9	44,160,323 (GRCm39)	missense	possibly damaging	0.90
R4942:Nherf4	UTSW	9	44,159,915 (GRCm39)	nonsense	probably null
R5436:Nherf4	UTSW	9	44,159,652 (GRCm39)	missense	possibly damaging	0.79
R6320:Nherf4	UTSW	9	44,159,980 (GRCm39)	missense	probably benign	0.00
R6688:Nherf4	UTSW	9	44,159,527 (GRCm39)	critical splice donor site	probably null
R7625:Nherf4	UTSW	9	44,161,594 (GRCm39)	missense	probably damaging	1.00
R8142:Nherf4	UTSW	9	44,162,078 (GRCm39)	critical splice donor site	probably null
R8917:Nherf4	UTSW	9	44,160,141 (GRCm39)	unclassified	probably benign
R9147:Nherf4	UTSW	9	44,160,676 (GRCm39)	missense	probably damaging	1.00
R9148:Nherf4	UTSW	9	44,160,676 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACATCTCACACAGCTCG -3'
(R):5'- AGGTGACTGATGCACCATG -3'

Sequencing Primer
(F):5'- ACAGCTCGACCCGTTAGC -3'
(R):5'- ACCATGTGCCTTGGAATCTAC -3'

Posted On

2021-01-18