Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Prom2'

576154

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127526473-127541467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127539811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

Ref Sequence

ENSEMBL: ENSMUSP00000028855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]

AlphaFold

Q3UUY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028855
AA Change: L195P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: L195P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Prominin	25	808	3.6e-279	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103214
AA Change: L195P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: L195P

Domain	Start	End	E-Value	Type
Pfam:Prominin	18	818	3e-288	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	C	T	2: 23,256,994	R337C	probably benign	Het
Adck5	T	A	15: 76,594,385	C318S	possibly damaging	Het
Aspm	T	A	1: 139,457,616	C333S	probably benign	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Ctgf	T	G	10: 24,597,499	M312R	probably damaging	Het
Cxcl16	A	G	11: 70,458,804	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Dnah9	T	C	11: 65,955,219	T2998A	probably benign	Het
Focad	T	C	4: 88,368,751	S1254P	unknown	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Gm6614	T	G	6: 142,003,508		probably null	Het
Gpr158	A	C	2: 21,827,318	L1076F	probably benign	Het
Hivep2	T	C	10: 14,133,741	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,349,542	T150K	probably benign	Het
Il6st	A	G	13: 112,488,560	I237V	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Kit	G	A	5: 75,645,847	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,967	N190I	probably damaging	Het
Lad1	C	T	1: 135,825,838	T41I	probably damaging	Het
Lrrc7	G	T	3: 158,198,141	T294K	probably benign	Het
Megf8	C	T	7: 25,338,371	R771C	probably benign	Het
Micu3	A	C	8: 40,378,914	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,474,213	N291D	unknown	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454	D79E	probably benign	Het
Myzap	T	C	9: 71,505,183	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,371,435	D907G	probably benign	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr105-ps	T	C	17: 37,383,299	V244A	probably damaging	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr332	A	G	11: 58,489,780	I325T	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Omd	A	T	13: 49,592,269	E385V	possibly damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,137,424	D20G	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995	N226K	probably damaging	Het
Ppp1r10	T	A	17: 35,930,133	H642Q	possibly damaging	Het
Psg23	C	T	7: 18,611,983		probably null	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Rhot2	A	T	17: 25,841,609	V233E	probably damaging	Het
Ripply2	T	C	9: 87,019,756	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,298,898	I427F	probably damaging	Het
Sned1	G	A	1: 93,289,358	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Srd5a3	A	G	5: 76,154,643	H285R	probably benign	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Syne1	T	C	10: 5,273,718	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,038,308	T27A	probably benign	Het
Tmem150b	A	T	7: 4,716,210	V237E	probably benign	Het
Trpv6	C	T	6: 41,625,153	M407I	probably benign	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Uroc1	A	T	6: 90,346,362	D354V	possibly damaging	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	probably damaging	Het

Other mutations in Prom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Prom2	APN	2	127541139	missense	probably benign	0.04
IGL01140:Prom2	APN	2	127531205	splice site	probably benign
IGL01300:Prom2	APN	2	127535089	missense	probably benign	0.44
IGL01445:Prom2	APN	2	127539513	splice site	probably benign
IGL01472:Prom2	APN	2	127532882	missense	probably benign	0.39
IGL01541:Prom2	APN	2	127529130	critical splice donor site	probably null
IGL01991:Prom2	APN	2	127529222	missense	probably damaging	1.00
IGL02421:Prom2	APN	2	127531882	critical splice acceptor site	probably null
IGL02557:Prom2	APN	2	127529471	missense	possibly damaging	0.85
IGL02724:Prom2	APN	2	127538657	splice site	probably benign
IGL02826:Prom2	APN	2	127531116	missense	probably benign	0.07
IGL02830:Prom2	APN	2	127535069	missense	possibly damaging	0.88
IGL02990:Prom2	APN	2	127528814	missense	probably benign	0.10
R0110:Prom2	UTSW	2	127531113	missense	possibly damaging	0.53
R0133:Prom2	UTSW	2	127538338	splice site	probably benign
R0165:Prom2	UTSW	2	127539514	splice site	probably benign
R0220:Prom2	UTSW	2	127541107	missense	probably benign	0.03
R0466:Prom2	UTSW	2	127528789	missense	probably damaging	0.99
R0505:Prom2	UTSW	2	127532867	missense	possibly damaging	0.82
R0605:Prom2	UTSW	2	127539995	critical splice donor site	probably null
R0633:Prom2	UTSW	2	127539525	missense	probably benign	0.19
R0947:Prom2	UTSW	2	127538263	missense	possibly damaging	0.69
R1682:Prom2	UTSW	2	127540162	missense	possibly damaging	0.90
R1806:Prom2	UTSW	2	127532882	missense	probably damaging	1.00
R1859:Prom2	UTSW	2	127541097	missense	probably damaging	0.97
R1864:Prom2	UTSW	2	127539787	missense	probably benign	0.00
R1866:Prom2	UTSW	2	127536594	missense	probably damaging	0.99
R3824:Prom2	UTSW	2	127535673	splice site	probably benign
R4472:Prom2	UTSW	2	127540191	missense	probably benign	0.06
R5078:Prom2	UTSW	2	127531837	missense	probably benign	0.00
R5889:Prom2	UTSW	2	127529411	missense	possibly damaging	0.79
R5930:Prom2	UTSW	2	127530133	nonsense	probably null
R6214:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6215:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6914:Prom2	UTSW	2	127530375	missense	possibly damaging	0.78
R7099:Prom2	UTSW	2	127539778	missense	probably benign
R7428:Prom2	UTSW	2	127539811	missense	probably damaging	0.99
R7525:Prom2	UTSW	2	127532781	missense	probably benign
R8477:Prom2	UTSW	2	127539204	missense	probably benign	0.01
R9287:Prom2	UTSW	2	127538265	missense	probably damaging	0.98
R9337:Prom2	UTSW	2	127529174	missense	probably damaging	0.99
Z1176:Prom2	UTSW	2	127532775	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127538305	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127539526	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CAGCCCCGTCTTACAGTTAG -3'
(R):5'- GAACGTGGTACCCTCATGATC -3'

Sequencing Primer
(F):5'- AGGTATTTCAGGGACTTTCCATCAG -3'
(R):5'- CTTCTGTGAGAGGCTCCCTAG -3'

Posted On

2019-10-07